#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
GLYAT	10249	broad.mit.edu	37	11	58480360	58480360	+	Splice_Site	SNP	C	C	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr11:58480360C>A	ENST00000344743.3	-	4	331		c.e4-1		GLYAT_ENST00000278400.3_Splice_Site|GLYAT_ENST00000529732.1_Splice_Site	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase						acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTGTCATATCCTGTTATCATT	0.303																																						ENST00000344743.3																			0				NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.e4-1		glycine-N-acyltransferase	Glycine(DB00145)						145.0	137.0	140.0					11																	58480360		2201	4295	6496	SO:0001630	splice_region_variant	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58480360C>A	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.190-1G>T	11.37:g.58480360C>A						GLYAT_ENST00000278400.3_Splice_Site|GLYAT_ENST00000529732.1_Splice_Site		NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN			4	331	-		Breast(21;0.0044)|all_epithelial(135;0.0157)						O14833|Q96QK7	Splice_Site	SNP	ENST00000344743.3	37		CCDS7970.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469871	0.63625	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0453	0.71822	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLYAT	58236936	1.000000	0.71417	0.853000	0.33588	0.902000	0.53008	3.836000	0.55813	2.685000	0.91497	0.585000	0.79938	.		0.303	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1		Intron	13	54	1	0	5.50884e-06	1	5.75924e-06	13	54				
SNHG14	104472715	broad.mit.edu	37	15	25310215	25310215	+	RNA	SNP	G	G	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr15:25310215G>T	ENST00000549804.2	+	0	538				SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA|SNORD116-5_ENST00000384462.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CCTTGGAAAAGCTGAACAAAA	0.473																																						ENST00000549804.2																			0																				208.0	185.0	192.0					15																	25310215		876	1991	2867			0							g.chr15:25310215G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310215G>T						SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA								0	538	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.473	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			7	400	1	0	0.000274275	1	0.000282462	7	400				
MEIS2	4212	broad.mit.edu	37	15	37329146	37329146	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr15:37329146T>G	ENST00000561208.1	-	8	1187	c.769A>C	c.(769-771)Aac>Cac	p.N257H	MEIS2_ENST00000338564.5_Missense_Mutation_p.N257H|MEIS2_ENST00000219869.9_Missense_Mutation_p.N111H|MEIS2_ENST00000340545.5_Missense_Mutation_p.N244H|MEIS2_ENST00000444725.1_Missense_Mutation_p.N257H|MEIS2_ENST00000382766.2_Missense_Mutation_p.N257H|MEIS2_ENST00000424352.2_Missense_Mutation_p.N257H|MEIS2_ENST00000557796.2_Missense_Mutation_p.N244H|MEIS2_ENST00000559561.1_Missense_Mutation_p.N257H|MEIS2_ENST00000559085.1_Missense_Mutation_p.N244H|MEIS2_ENST00000397620.2_Missense_Mutation_p.N169H|MEIS2_ENST00000397624.3_Missense_Mutation_p.N169H			O14770	MEIS2_HUMAN	Meis homeobox 2	257	Asp/Glu-rich (acidic).				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GCTACACTGTTGTCTAAACCA	0.408																																						ENST00000338564.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(769-771)Aac>Cac		Meis homeobox 2							144.0	128.0	133.0					15																	37329146		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37329146T>G	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.769A>C	15.37:g.37329146T>G	ENSP00000453793:p.Asn257His					MEIS2_ENST00000424352.2_Missense_Mutation_p.N257H|MEIS2_ENST00000444725.1_Missense_Mutation_p.N257H|MEIS2_ENST00000382766.2_Missense_Mutation_p.N257H|MEIS2_ENST00000561208.1_Missense_Mutation_p.N257H|MEIS2_ENST00000340545.5_Missense_Mutation_p.N244H|MEIS2_ENST00000559561.1_Missense_Mutation_p.N257H|MEIS2_ENST00000397620.2_Missense_Mutation_p.N169H|MEIS2_ENST00000557796.2_Missense_Mutation_p.N244H|MEIS2_ENST00000219869.9_Missense_Mutation_p.N111H|MEIS2_ENST00000397624.3_Missense_Mutation_p.N169H|MEIS2_ENST00000559085.1_Missense_Mutation_p.N244H	p.N257H	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	9	1215	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	257			Asp/Glu-rich (acidic).		A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.769A>C	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634153	0.29068	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	T;D;D;D;D;D;D;D	0.89270	1.88;-2.22;-2.22;-2.14;-2.2;-2.2;-2.19;-2.49	5.14	5.14	0.70334	Homeodomain-related (1);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	L	0.50333	1.59	0.80722	D	1	B;B;D;B;P;B;B;B	0.63046	0.01;0.088;0.992;0.008;0.928;0.021;0.024;0.002	B;B;P;B;P;B;B;B	0.61328	0.019;0.2;0.887;0.028;0.641;0.019;0.026;0.005	D	0.92492	0.6001	10	0.66056	D	0.02	-0.027	15.2495	0.73532	0.0:0.0:0.0:1.0	.	244;257;257;257;257;111;169;244	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.;.	H	257;257;257;257;257;244;244;169;111	ENSP00000326296:N257H;ENSP00000341400:N257H;ENSP00000372216:N257H;ENSP00000404185:N257H;ENSP00000391887:N257H;ENSP00000339549:N244H;ENSP00000380745:N169H;ENSP00000219869:N111H	ENSP00000219869:N111H	N	-	1	0	MEIS2	35116438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.068000	0.61886	0.528000	0.53228	AAC		0.408	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		57	80	0	0	0	1	0	57	80				
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TCACTGACATCGAAGGCTGCC	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659593C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659593C>T								NR_003714.1						0	3118	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	18	0	0	0	1	0	3	18				
GRIK2	2898	broad.mit.edu	37	6	101847197	101847197	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:101847197G>A	ENST00000421544.1	+	1	534	c.44G>A	c.(43-45)cGc>cAc	p.R15H	GRIK2_ENST00000318991.6_Missense_Mutation_p.R15H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R15H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R15H|GRIK2_ENST00000358361.3_Missense_Mutation_p.R15H|GRIK2_ENST00000369138.1_Missense_Mutation_p.R15H	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	15					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|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 cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTCTTCAGGCGCACCGTTAAA	0.473																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(43-45)cGc>cAc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						171.0	155.0	160.0					6																	101847197		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:101847197G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.44G>A	6.37:g.101847197G>A	ENSP00000397026:p.Arg15His					GRIK2_ENST00000413795.1_Missense_Mutation_p.R15H|GRIK2_ENST00000358361.3_Missense_Mutation_p.R15H|GRIK2_ENST00000421544.1_Missense_Mutation_p.R15H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R15H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R15H	p.R15H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	1	534	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	15					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.44G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498768	0.64298	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289	T;T;T;T;T;T	0.23552	2.77;2.72;2.66;1.9;2.98;2.72	5.02	5.02	0.67125	.	0.479715	0.20655	N	0.088140	T	0.07683	0.0193	N	0.14661	0.345	0.80722	D	1	P;B;P	0.41569	0.755;0.217;0.719	B;B;B	0.35727	0.209;0.002;0.136	T	0.19031	-1.0318	10	0.14656	T	0.56	.	18.8879	0.92387	0.0:0.0:1.0:0.0	.	15;15;15	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	15	ENSP00000397026:R15H;ENSP00000405596:R15H;ENSP00000358134:R15H;ENSP00000351128:R15H;ENSP00000358133:R15H;ENSP00000313276:R15H	ENSP00000313276:R15H	R	+	2	0	GRIK2	101953918	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.509000	0.53386	2.767000	0.95098	0.655000	0.94253	CGC		0.473	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			4	244	0	0	0	1	0	4	244				
OR10R2	343406	broad.mit.edu	37	1	158450564	158450564	+	Silent	SNP	G	G	A	rs146808200		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:158450564G>A	ENST00000368152.1	+	1	897	c.897G>A	c.(895-897)acG>acA	p.T299T	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	299						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(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGACATACACGATTGTCACTC	0.433																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(895-897)acG>acA		olfactory receptor, family 10, subfamily R, member 2		G		0,4406		0,0,2203	142.0	123.0	130.0		897	-6.1	0.0	1	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR10R2	NM_001004472.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		299/336	158450564	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450564G>A	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.897G>A	1.37:g.158450564G>A						RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.T299T	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	897	+	all_hematologic(112;0.0378)		299					Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	ENST00000368152.1	37	c.897G>A	CCDS30898.1																																																																																				0.433	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		26	41	0	0	0	1	0	26	41				
SCARF2	91179	broad.mit.edu	37	22	20783912	20783912	+	Silent	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr22:20783912G>A	ENST00000266214.5	-	8	1439	c.1335C>T	c.(1333-1335)ggC>ggT	p.G445G	SCARF2_ENST00000405555.3_Silent_p.G445G	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	445					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCGCGCCCGCGCCCATCACGC	0.677																																						ENST00000405555.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10						c.(1333-1335)ggC>ggT		scavenger receptor class F, member 2							56.0	65.0	62.0					22																	20783912		2203	4300	6503	SO:0001819	synonymous_variant	0				cell adhesion	integral to membrane	protein binding|receptor activity	g.chr22:20783912G>A	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1335C>T	22.37:g.20783912G>A						SCARF2_ENST00000266214.5_Silent_p.G445G	p.G445G	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		8	1405	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	445					E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	c.1335C>T	CCDS13779.1																																																																																				0.677	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			8	76	0	0	0	1	0	8	76				
NLRP5	126206	broad.mit.edu	37	19	56538685	56538685	+	Silent	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:56538685C>T	ENST00000390649.3	+	7	1086	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	362	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCATCATTGACGGTTTCGATG	0.547																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1084-1086)gaC>gaT		NLR family, pyrin domain containing 5							47.0	47.0	47.0					19																	56538685		2075	4210	6285	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538685C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1086C>T	19.37:g.56538685C>T							p.D362D	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1086	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	362			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1086C>T	CCDS12938.1																																																																																				0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		12	17	0	0	0	1	0	12	17				
EIF4E	1977	broad.mit.edu	37	4	99812468	99812468	+	Missense_Mutation	SNP	A	A	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr4:99812468A>C	ENST00000450253.2	-	3	1665	c.141T>G	c.(139-141)ttT>ttG	p.F47L	EIF4E_ENST00000280892.6_Missense_Mutation_p.F67L|EIF4E_ENST00000505992.1_Missense_Mutation_p.F47L|EIF4E_ENST00000504432.1_Missense_Mutation_p.F75L	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	47					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		CATTTTTAAAAAACCAgagtg	0.343																																						ENST00000450253.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13						c.(139-141)ttT>ttG		eukaryotic translation initiation factor 4E							43.0	43.0	43.0					4																	99812468		2202	4300	6502	SO:0001583	missense	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99812468A>C	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.141T>G	4.37:g.99812468A>C	ENSP00000389624:p.Phe47Leu					EIF4E_ENST00000504432.1_Missense_Mutation_p.F75L|EIF4E_ENST00000280892.6_Missense_Mutation_p.F67L|EIF4E_ENST00000505992.1_Missense_Mutation_p.F47L	p.F47L	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	3	1665	-			47					B7Z6V1|D6RCQ6|Q96E95	Missense_Mutation	SNP	ENST00000450253.2	37	c.141T>G	CCDS34031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.4|21.4	4.137259|4.137259	0.77775|0.77775	.|.	.|.	ENSG00000151247|ENSG00000151247	ENST00000450253;ENST00000280892;ENST00000504432;ENST00000505992|ENST00000511644	T;T;T;T|T	0.48201|0.47869	0.86;0.86;0.86;0.82|0.83	5.21|5.21	5.21|5.21	0.72293|0.72293	Translation Initiation factor eIF- 4e-like  domain (2);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.61489|0.61489	0.2351|0.2351	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.49307|.	0.922;0.84;0.734;0.492|.	P;P;P;P|.	0.60236|.	0.831;0.657;0.871;0.689|.	T|T	0.66634|0.66634	-0.5874|-0.5874	10|8	0.87932|0.87932	D|D	0|0	-32.756|-32.756	8.023|8.023	0.30421|0.30421	0.8465:0.0:0.1535:0.0|0.8465:0.0:0.1535:0.0	.|.	47;47;67;47|.	B7Z2T1;P06730-2;B7Z6V1;P06730|.	.;.;.;IF4E_HUMAN|.	L|V	47;67;75;47|44	ENSP00000389624:F47L;ENSP00000280892:F67L;ENSP00000423977:F75L;ENSP00000425561:F47L|ENSP00000421287:F44V	ENSP00000280892:F67L|ENSP00000421287:F44V	F|F	-|-	3|1	2|0	EIF4E|EIF4E	100031491|100031491	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.576000|3.576000	0.53878|0.53878	2.082000|2.082000	0.62665|0.62665	0.455000|0.455000	0.32223|0.32223	TTT|TTT		0.343	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		30	33	0	0	0	1	0	30	33				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G	rs202030378|rs372212945	byFrequency	TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr7:72664015C>G	ENST00000425256.1	-	0	885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCC	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72664015C>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664015C>G								NR_002164.1						0	885	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		3	15	0	0	0	1	0	3	15				
POLE	5426	broad.mit.edu	37	12	133220429	133220429	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:133220429C>G	ENST00000320574.5	-	33	4327	c.4284G>C	c.(4282-4284)gaG>gaC	p.E1428D	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.E1401D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1428					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCACCTGAGTCTCATATACGC	0.567								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4282-4284)gaG>gaC	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							141.0	122.0	129.0					12																	133220429		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220429C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4284G>C	12.37:g.133220429C>G	ENSP00000322570:p.Glu1428Asp					POLE_ENST00000535270.1_Missense_Mutation_p.E1401D	p.E1428D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	33	4327	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1428					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4284G>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274745	0.59649	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.20881	2.04;2.04;2.04	5.63	3.78	0.43462	.	0.131869	0.64402	D	0.000002	T	0.50274	0.1606	M	0.91090	3.175	0.50039	D	0.999849	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.968	T	0.57723	-0.7762	10	0.87932	D	0	.	8.8084	0.34952	0.0:0.7743:0.0:0.2257	.	1401;1428	F5H1D6;Q07864	.;DPOE1_HUMAN	D	1428;1439;1401	ENSP00000322570:E1428D;ENSP00000406383:E1439D;ENSP00000445753:E1401D	ENSP00000322570:E1428D	E	-	3	2	POLE	131730502	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	1.586000	0.36611	1.523000	0.49018	0.650000	0.86243	GAG		0.567	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		13	49	0	0	0	1	0	13	49				
VPS13A	23230	broad.mit.edu	37	9	79959998	79959998	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr9:79959998G>C	ENST00000360280.3	+	52	7489	c.7229G>C	c.(7228-7230)gGa>gCa	p.G2410A	VPS13A_ENST00000376636.3_Missense_Mutation_p.G2371A|VPS13A_ENST00000376634.4_Missense_Mutation_p.G2410A|VPS13A_ENST00000357409.5_Missense_Mutation_p.G2410A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2410					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCATGATGGAGCAGCTACA	0.318																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(7228-7230)gGa>gCa		vacuolar protein sorting 13 homolog A (S. cerevisiae)							153.0	152.0	152.0					9																	79959998		2202	4299	6501	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79959998G>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7229G>C	9.37:g.79959998G>C	ENSP00000353422:p.Gly2410Ala					VPS13A_ENST00000376634.4_Missense_Mutation_p.G2410A|VPS13A_ENST00000376636.3_Missense_Mutation_p.G2371A|VPS13A_ENST00000357409.5_Missense_Mutation_p.G2410A	p.G2410A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			52	7489	+			2410					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.7229G>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568462	0.86439	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.4	5.4	0.78164	Vacuolar protein sorting-associated protein (1);	0.134405	0.48767	D	0.000170	T	0.55337	0.1914	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.76494	0.995;0.999;0.999;0.999	D;D;D;D	0.71870	0.974;0.966;0.975;0.975	T	0.49113	-0.8973	10	0.22706	T	0.39	.	18.7833	0.91944	0.0:0.0:1.0:0.0	.	2371;2410;2410;2410	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	A	2410;2371;2410;2410	ENSP00000365821:G2410A;ENSP00000365823:G2371A;ENSP00000353422:G2410A;ENSP00000349985:G2410A	ENSP00000349985:G2410A	G	+	2	0	VPS13A	79149818	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.325000	0.96381	2.534000	0.85438	0.585000	0.79938	GGA		0.318	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		15	108	0	0	0	1	0	15	108				
SYNE2	23224	broad.mit.edu	37	14	64656884	64656884	+	Silent	SNP	A	A	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr14:64656884A>T	ENST00000344113.4	+	99	18179	c.17967A>T	c.(17965-17967)gcA>gcT	p.A5989A	SYNE2_ENST00000358025.3_Silent_p.A5989A|SYNE2_ENST00000554584.1_Silent_p.A5852A|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.A2623A|SYNE2_ENST00000357395.3_Silent_p.A2374A|SYNE2_ENST00000394768.2_Silent_p.A2374A	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5989					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATCAAGAGCAGCTGAGATCG	0.398																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7120-7122)gcA>gcT		spectrin repeat containing, nuclear envelope 2							137.0	117.0	124.0					14																	64656884		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64656884A>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17967A>T	14.37:g.64656884A>T						SYNE2_ENST00000554584.1_Silent_p.A5852A|SYNE2_ENST00000555002.1_Silent_p.A2623A|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.A2374A|SYNE2_ENST00000344113.4_Silent_p.A5989A|SYNE2_ENST00000358025.3_Silent_p.A5989A	p.A2374A			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	100	18266	+			5989					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.7122A>T	CCDS41963.1																																																																																				0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		30	56	0	0	0	1	0	30	56				
BCL11A	53335	broad.mit.edu	37	2	60687797	60687797	+	Silent	SNP	G	G	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:60687797G>T	ENST00000335712.6	-	4	2477	c.2250C>A	c.(2248-2250)gtC>gtA	p.V750V	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000358510.4_Silent_p.V716V|BCL11A_ENST00000538214.1_Silent_p.V716V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	750					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)			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)			AGTTCTTGAAGACTTTCCCAC	0.562			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				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.(2248-2250)gtC>gtA		B-cell CLL/lymphoma 11A (zinc finger protein)							119.0	123.0	122.0					2																	60687797		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:60687797G>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.2250C>A	2.37:g.60687797G>T						BCL11A_ENST00000358510.4_Silent_p.V716V|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000538214.1_Silent_p.V716V|BCL11A_ENST00000477659.1_5'UTR	p.V750V	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	2477	-			750					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.2250C>A	CCDS1862.1																																																																																				0.562	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		88	128	1	0	1.26458e-31	1	1.38502e-31	88	128				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	0							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	134	0	0	0	1	0	6	134				
IGKV1-16	28938	broad.mit.edu	37	2	89399378	89399378	+	RNA	SNP	A	A	G			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:89399378A>G	ENST00000479981.1	-	0	351									immunoglobulin kappa variable 1-16																		TGTTGGCAGTAATAAGTTGCA	0.507																																						ENST00000479981.1																			0																				56.0	54.0	55.0					2																	89399378		1800	4032	5832			0							g.chr2:89399378A>G	J00248		2p11.2	2012-02-10			ENSG00000240864	ENSG00000240864		"""Immunoglobulins / IGK locus"""	5732	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV116, L1			OTTHUMG00000151649		2.37:g.89399378A>G														0	351	-									RNA	SNP	ENST00000479981.1	37																																																																																						0.507	IGKV1-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323398.1	NG_000834		66	124	0	0	0	1	0	66	124				
CNTNAP4	85445	broad.mit.edu	37	16	76389360	76389360	+	Silent	SNP	T	T	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr16:76389360T>C	ENST00000476707.1	+	2	490	c.351T>C	c.(349-351)agT>agC	p.S117S	CNTNAP4_ENST00000377504.4_Silent_p.S113S|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Silent_p.S113S|CNTNAP4_ENST00000478060.1_Silent_p.S89S			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	114	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGATGTTCAGTGATAGTGGCT	0.478																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(337-339)agT>agC		contactin associated protein-like 4							100.0	92.0	95.0					16																	76389360		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76389360T>C	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.351T>C	16.37:g.76389360T>C						CNTNAP4_ENST00000478060.1_Silent_p.S89S|CNTNAP4_ENST00000476707.1_Silent_p.S117S|CNTNAP4_ENST00000377504.4_Silent_p.S113S|CNTNAP4_ENST00000469589.1_3'UTR	p.S113S	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			4	724	+			114			F5/8 type C.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.339T>C																																																																																					0.478	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		46	67	0	0	0	1	0	46	67				
LGI2	55203	broad.mit.edu	37	4	25005383	25005383	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr4:25005383G>C	ENST00000382114.4	-	8	1513	c.1328C>G	c.(1327-1329)tCc>tGc	p.S443C		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	443						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CATGACCCGGGAGTCCCCGAT	0.532																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1327-1329)tCc>tGc		leucine-rich repeat LGI family, member 2							154.0	167.0	163.0					4																	25005383		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25005383G>C	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1328C>G	4.37:g.25005383G>C	ENSP00000371548:p.Ser443Cys						p.S443C	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			8	1513	-		Breast(46;0.173)	443					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.1328C>G	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501100	0.85176	.	.	ENSG00000153012	ENST00000382114;ENST00000282970	D	0.83914	-1.78	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.90872	0.7132	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91030	0.4863	10	0.87932	D	0	-27.9823	19.9944	0.97379	0.0:0.0:1.0:0.0	.	443	Q8N0V4	LGI2_HUMAN	C	443;91	ENSP00000371548:S443C	ENSP00000282970:S91C	S	-	2	0	LGI2	24614481	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.869000	0.99810	2.720000	0.93068	0.557000	0.71058	TCC		0.532	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			111	157	0	0	0	1	0	111	157				
TMPO	7112	broad.mit.edu	37	12	98927085	98927085	+	Intron	SNP	A	A	G	rs147812883		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:98927085A>G	ENST00000556029.1	+	3	921				TMPO_ENST00000261210.5_Intron|TMPO_ENST00000266732.4_Silent_p.Q350Q|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTTCAGATCAATCGCCTCTCT	0.418													A|||	1	0.000199681	0.0	0.0	5008	,	,		19042	0.0		0.001	False		,,,				2504	0.0					ENST00000266732.4																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1048-1050)caA>caG		thymopoietin		A	,,	1,4405	2.1+/-5.4	0,1,2202	64.0	69.0	67.0		,,1050	-0.9	0.5	12	dbSNP_134	67	3,8597	3.0+/-9.4	0,3,4297	no	intron,intron,coding-synonymous	TMPO	NM_001032283.2,NM_001032284.2,NM_003276.2	,,	0,4,6499	GG,GA,AA		0.0349,0.0227,0.0308	,,	,,350/695	98927085	4,13002	2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98927085A>G		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1469A>G	12.37:g.98927085A>G						TMPO_ENST00000261210.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron	p.Q350Q	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN			4	1288	+			256			Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic (Potential).		A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	c.1050A>G	CCDS31879.1																																																																																				0.418	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		6	87	0	0	0	1	0	6	87				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	76	0	0	0	1	0	5	76				
OR4P4	81300	broad.mit.edu	37	11	55405900	55405900	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr11:55405900G>A	ENST00000314612.2	+	1	67	c.67G>A	c.(67-69)Gtc>Atc	p.V23I		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GAACATTGAAGTCCTCTGCTT	0.363																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(67-69)Gtc>Atc		olfactory receptor, family 4, subfamily P, member 4							123.0	116.0	118.0					11																	55405900		2181	4026	6207	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405900G>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.67G>A	11.37:g.55405900G>A	ENSP00000324831:p.Val23Ile						p.V23I	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	67	+			23						Missense_Mutation	SNP	ENST00000314612.2	37	c.67G>A	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.954346	0.00470	.	.	ENSG00000181927	ENST00000314612	T	0.00285	8.3	5.02	-3.34	0.04943	.	3.684390	0.01134	N	0.006044	T	0.00109	0.0003	N	0.02334	-0.595	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43163	-0.9408	10	0.52906	T	0.07	-0.014	0.6412	0.00810	0.3697:0.1236:0.2666:0.2401	.	23	Q8NGL7	OR4P4_HUMAN	I	23	ENSP00000324831:V23I	ENSP00000324831:V23I	V	+	1	0	OR4P4	55162476	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.740000	0.01839	-1.000000	0.03438	-1.563000	0.00883	GTC		0.363	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		56	100	0	0	0	1	0	56	100				
PRSS21	10942	broad.mit.edu	37	16	2871093	2871093	+	Missense_Mutation	SNP	G	G	A	rs373819301		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr16:2871093G>A	ENST00000005995.3	+	5	730	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	PRSS21_ENST00000450020.3_Intron|PRSS21_ENST00000455114.1_Missense_Mutation_p.G228R|PRSS21_ENST00000575739.1_Intron			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	230	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						TGCCCAAGGCGGGAAGGATGC	0.542																																						ENST00000455114.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						c.(682-684)Ggg>Agg		protease, serine, 21 (testisin)		G	ARG/GLY,ARG/GLY,	1,4395	2.1+/-5.4	0,1,2197	258.0	229.0	239.0		688,682,	0.4	0.0	16		239	0,8600		0,0,4300	no	missense,missense,intron	PRSS21	NM_006799.2,NM_144956.1,NM_144957.1	125,125,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,	230/315,228/313,	2871093	1,12995	2198	4300	6498	SO:0001583	missense	10942				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	g.chr16:2871093G>A	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.688G>A	16.37:g.2871093G>A	ENSP00000005995:p.Gly230Arg					PRSS21_ENST00000450020.3_Intron|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000005995.3_Missense_Mutation_p.G230R	p.G228R	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN			5	788	+			230			Peptidase S1.		Q9NS34|Q9P2V6	Missense_Mutation	SNP	ENST00000005995.3	37	c.682G>A	CCDS10478.1	.	.	.	.	.	.	.	.	.	.	g	7.367	0.626000	0.14257	2.27E-4	0.0	ENSG00000007038	ENST00000455114;ENST00000005995	D;D	0.90133	-2.62;-2.62	4.14	0.42	0.16444	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.86322	0.5905	L	0.55103	1.725	0.09310	N	1	P;B	0.50710	0.938;0.171	B;B	0.42798	0.398;0.035	T	0.76280	-0.3017	9	0.44086	T	0.13	.	6.7545	0.23505	0.5373:0.0:0.4627:0.0	.	230;228	Q9Y6M0;Q9Y6M0-2	TEST_HUMAN;.	R	228;230	ENSP00000400632:G228R;ENSP00000005995:G230R	ENSP00000005995:G230R	G	+	1	0	PRSS21	2811094	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.700000	0.05081	0.220000	0.20860	0.567000	0.79289	GGG		0.542	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		88	142	0	0	0	1	0	88	142				
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr7:142168890C>T	ENST00000454561.2	-	0	155									T cell receptor beta variable 5-4																		GGGCTTGGTCCTCCTGGGGAA	0.592																																						ENST00000454561.2																			0																				25.0	26.0	26.0					7																	142168890		1957	4131	6088			0							g.chr7:142168890C>T	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168890C>T														0	155	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.592	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		6	24	0	0	0	1	0	6	24				
CDH16	1014	broad.mit.edu	37	16	66945164	66945164	+	Silent	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr16:66945164C>T	ENST00000299752.4	-	14	2038	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G	CDH16_ENST00000570262.1_Silent_p.G535G|CDH16_ENST00000394055.3_Silent_p.G615G|CDH16_ENST00000565796.1_Silent_p.G615G|CDH16_ENST00000568632.1_Silent_p.G518G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	615	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGTGCACCTCCCCGGAGAATT	0.602																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1843-1845)ggG>ggA		cadherin 16, KSP-cadherin							41.0	39.0	40.0					16																	66945164		2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66945164C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1845G>A	16.37:g.66945164C>T						CDH16_ENST00000565796.1_Silent_p.G615G|CDH16_ENST00000394055.3_Silent_p.G615G|CDH16_ENST00000568632.1_Silent_p.G518G|CDH16_ENST00000570262.1_Silent_p.G535G	p.G615G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	14	2038	-		Ovarian(137;0.0563)	615			Cadherin 6.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.1845G>A	CCDS10823.1																																																																																				0.602	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		12	15	0	0	0	1	0	12	15				
GLTSCR2	29997	broad.mit.edu	37	19	48248903	48248903	+	Silent	SNP	G	G	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:48248903G>T	ENST00000246802.5	+	1	125	c.87G>T	c.(85-87)tcG>tcT	p.S29S	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	29						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GGCCCACTTCGGTGGACCCAG	0.657																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(85-87)tcG>tcT		glioma tumor suppressor candidate region gene 2							51.0	61.0	57.0					19																	48248903		2203	4300	6503	SO:0001819	synonymous_variant	29997					nucleolus		g.chr19:48248903G>T	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.87G>T	19.37:g.48248903G>T						GLTSCR2_ENST00000598681.1_3'UTR	p.S29S	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	1	125	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	29					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	c.87G>T	CCDS12705.1																																																																																				0.657	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		42	69	1	0	3.77016e-25	1	4.0647e-25	42	69				
B3GNT2	10678	broad.mit.edu	37	2	62449961	62449961	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:62449961T>A	ENST00000301998.4	+	2	858	c.606T>A	c.(604-606)agT>agA	p.S202R	B3GNT2_ENST00000405767.1_Missense_Mutation_p.S202R	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	202					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AATTTGAGAGTGAGAAGCACC	0.507																																						ENST00000301998.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(604-606)agT>agA		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2							65.0	61.0	62.0					2																	62449961		2203	4300	6503	SO:0001583	missense	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449961T>A	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.606T>A	2.37:g.62449961T>A	ENSP00000305595:p.Ser202Arg					B3GNT2_ENST00000405767.1_Missense_Mutation_p.S202R	p.S202R	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	858	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		202					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	c.606T>A	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.338563	0.60963	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.44482	0.92;0.92	5.74	0.54	0.17163	.	0.224065	0.52532	D	0.000062	T	0.65026	0.2652	M	0.92923	3.36	0.58432	D	0.999993	D	0.62365	0.991	P	0.61275	0.886	T	0.69978	-0.4998	10	0.59425	D	0.04	.	10.9276	0.47199	0.0:0.3137:0.0:0.6863	.	202	Q9NY97	B3GN2_HUMAN	R	202	ENSP00000305595:S202R;ENSP00000384692:S202R	ENSP00000305595:S202R	S	+	3	2	B3GNT2	62303465	0.003000	0.15002	1.000000	0.80357	0.989000	0.77384	-0.042000	0.12063	0.103000	0.17682	0.528000	0.53228	AGT		0.507	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		30	68	0	0	0	1	0	30	68				
RPL23AP7	118433	broad.mit.edu	37	2	114369647	114369647	+	RNA	SNP	T	T	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:114369647T>C	ENST00000416673.2	-	0	509					NR_000029.3				ribosomal protein L23a pseudogene 7																		CTTCTGAGGCTATCTGGGCTG	0.537																																						ENST00000416673.2																			0																																																			0							g.chr2:114369647T>C	BC000596		2q14	2009-03-11				ENSG00000240356		"""L ribosomal proteins"""	17336	pseudogene	pseudogene						19123937	Standard	NR_000029		Approved	RPL23AL1, bA395L14.9	uc010yxy.1				2.37:g.114369647T>C								NR_000029.3						0	509	-									RNA	SNP	ENST00000416673.2	37																																																																																						0.537	RPL23AP7-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000397215.1			56	94	0	0	0	1	0	56	94				
TRAF3IP2	10758	broad.mit.edu	37	6	111912849	111912849	+	Silent	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:111912849C>T	ENST00000340026.6	-	3	1062	c.468G>A	c.(466-468)gcG>gcA	p.A156A	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Silent_p.A147A|TRAF3IP2_ENST00000359831.4_Silent_p.A147A|TRAF3IP2_ENST00000392556.4_5'UTR			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	156	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CAGGAGAAGCCGCTGAAAGCT	0.522																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(439-441)gcG>gcA		TRAF3 interacting protein 2							55.0	52.0	53.0					6																	111912849		2203	4300	6503	SO:0001819	synonymous_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111912849C>T	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.468G>A	6.37:g.111912849C>T						TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000340026.6_Silent_p.A156A|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Silent_p.A147A	p.A147A	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	2	919	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	156					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	ENST00000340026.6	37	c.441G>A																																																																																					0.522	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			8	88	0	0	0	1	0	8	88				
DDX54	79039	broad.mit.edu	37	12	113599733	113599733	+	Silent	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:113599733G>A	ENST00000306014.5	-	18	2292	c.2265C>T	c.(2263-2265)agC>agT	p.S755S	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000314045.7_Silent_p.S755S	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	755					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.S755R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGTAGCGGCCGCTCTCTGTCT	0.592																																						ENST00000314045.7																			1	Substitution - Missense(1)	p.S755R(1)	ovary(1)	breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2263-2265)agC>agT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							170.0	151.0	158.0					12																	113599733		2203	4300	6503	SO:0001819	synonymous_variant	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113599733G>A	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2265C>T	12.37:g.113599733G>A						DDX54_ENST00000306014.5_Silent_p.S755S	p.S755S	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			18	2292	-			755					Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	c.2265C>T	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	7.927	0.739895	0.15642	.	.	ENSG00000123064	ENST00000546898	.	.	.	4.74	-4.11	0.03928	.	.	.	.	.	T	0.62998	0.2474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62690	-0.6801	4	.	.	.	.	14.0485	0.64719	0.4385:0.0:0.5615:0.0	.	.	.	.	W	158	.	.	R	-	1	2	DDX54	112084116	0.128000	0.22383	0.974000	0.42286	0.508000	0.34012	-0.377000	0.07456	-0.746000	0.04766	-1.564000	0.00881	CGG		0.592	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		4	219	0	0	0	1	0	4	219				
SPAG17	200162	broad.mit.edu	37	1	118640423	118640423	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:118640423G>C	ENST00000336338.5	-	7	946	c.881C>G	c.(880-882)aCt>aGt	p.T294S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	294						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTCCAGAAAGTTTTAAGCTC	0.328																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(880-882)aCt>aGt		sperm associated antigen 17							141.0	134.0	137.0					1																	118640423		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118640423G>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.881C>G	1.37:g.118640423G>C	ENSP00000337804:p.Thr294Ser						p.T294S	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	7	946	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	294					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.881C>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	2.130	-0.399240	0.04865	.	.	ENSG00000155761	ENST00000336338	T	0.22945	1.93	5.3	-0.599	0.11645	.	0.859115	0.10475	N	0.670332	T	0.05456	0.0144	L	0.38175	1.15	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.39143	-0.9628	10	0.37606	T	0.19	.	2.238	0.04013	0.3352:0.1394:0.3891:0.1363	.	294	Q6Q759	SPG17_HUMAN	S	294	ENSP00000337804:T294S	ENSP00000337804:T294S	T	-	2	0	SPAG17	118441946	0.000000	0.05858	0.232000	0.24009	0.033000	0.12548	-0.066000	0.11598	-0.048000	0.13401	-0.355000	0.07637	ACT		0.328	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		22	31	0	0	0	1	0	22	31				
ZBTB18	10472	broad.mit.edu	37	1	244218427	244218427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:244218427C>T	ENST00000358704.4	+	2	1500	c.1351C>T	c.(1351-1353)Cag>Tag	p.Q451*		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	442					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CACATGCACCCAGTGCGGCAA	0.627																																						ENST00000358704.4																			0											c.(1351-1353)Cag>Tag		zinc finger and BTB domain containing 18							62.0	63.0	63.0					1																	244218427		2203	4300	6503	SO:0001587	stop_gained	10472							g.chr1:244218427C>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1351C>T	1.37:g.244218427C>T	ENSP00000351539:p.Gln451*						p.Q451*	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	1500	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Nonsense_Mutation	SNP	ENST00000358704.4	37	c.1351C>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	36	5.895324	0.97074	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	.	.	.	5.68	5.68	0.88126	.	0.126303	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.7964	0.96487	0.0:1.0:0.0:0.0	.	.	.	.	X	451	.	ENSP00000351539:Q451X	Q	+	1	0	ZNF238	242285050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.897000	0.56273	2.702000	0.92279	0.655000	0.94253	CAG		0.627	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		4	81	0	0	0	1	0	4	81				
ANAPC1	64682	broad.mit.edu	37	2	112596041	112596041	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:112596041T>C	ENST00000341068.3	-	18	2861	c.2089A>G	c.(2089-2091)Agg>Ggg	p.R697G		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	697					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TCGGAAGGCCTTGCTTTTTTG	0.343																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(2089-2091)Agg>Ggg		anaphase promoting complex subunit 1							52.0	55.0	54.0					2																	112596041		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112596041T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.2089A>G	2.37:g.112596041T>C	ENSP00000339109:p.Arg697Gly						p.R697G	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			18	2861	-			697					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.2089A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	19.13|19.13	3.768564|3.768564	0.69878|0.69878	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000427997|ENST00000341068	.|T	.|0.51574	.|0.7	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	.|0.000000	.|0.47455	.|U	.|0.000223	T|T	0.50633|0.50633	0.1627|0.1627	M|M	0.82323|0.82323	2.585|2.585	0.51767|0.51767	D|D	0.99993|0.99993	.|B	.|0.25521	.|0.128	.|B	.|0.24848	.|0.056	T|T	0.54846|0.54846	-0.8232|-0.8232	5|10	.|0.49607	.|T	.|0.09	-4.199|-4.199	10.9179|10.9179	0.47148|0.47148	0.0:0.0:0.1571:0.8429|0.0:0.0:0.1571:0.8429	.|.	.|697	.|Q9H1A4	.|APC1_HUMAN	R|G	231|697	.|ENSP00000339109:R697G	.|ENSP00000339109:R697G	K|R	-|-	2|1	0|2	ANAPC1|ANAPC1	112312512|112312512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.885000|2.885000	0.48570|0.48570	1.798000|1.798000	0.52647|0.52647	0.445000|0.445000	0.29226|0.29226	AAG|AGG		0.343	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		33	54	0	0	0	1	0	33	54				
GATA3	2625	broad.mit.edu	37	10	8115720	8115720	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr10:8115720A>G	ENST00000346208.3	+	6	1521	c.1066A>G	c.(1066-1068)Atg>Gtg	p.M356V	GATA3_ENST00000379328.3_Missense_Mutation_p.M357V|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	356					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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 core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.M357fs*14(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACCCCTGACTATGAAGAAGGA	0.403			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		1	Deletion - Frameshift(1)	p.M357fs*14(1)	breast(1)	NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(1069-1071)Atg>Gtg		GATA binding protein 3							44.0	47.0	46.0					10																	8115720		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8115720A>G	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1066A>G	10.37:g.8115720A>G	ENSP00000341619:p.Met356Val					GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.M356V	p.M357V	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			6	1637	+			356					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.1069A>G	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.958546	0.53400	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.99652	-6.3;-6.3	4.98	4.98	0.66077	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (2);	0.083165	0.85682	D	0.000000	D	0.99527	0.9831	M	0.81341	2.54	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.67725	0.928;0.953	D	0.98145	1.0438	10	0.87932	D	0	-17.9353	14.7009	0.69154	1.0:0.0:0.0:0.0	.	356;357	P23771;P23771-2	GATA3_HUMAN;.	V	357;356	ENSP00000368632:M357V;ENSP00000341619:M356V	ENSP00000341619:M356V	M	+	1	0	GATA3	8155726	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	9.339000	0.96797	1.870000	0.54199	0.379000	0.24179	ATG		0.403	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		8	35	0	0	0	1	0	8	35				
GOPC	57120	broad.mit.edu	37	6	117894644	117894644	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:117894644C>T	ENST00000368498.2	-	5	877	c.802G>A	c.(802-804)Gca>Aca	p.A268T	GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Missense_Mutation_p.A260T|GOPC_ENST00000535237.1_Missense_Mutation_p.A268T	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	268					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CCTGGTGGTGCTTGCATTGGT	0.433			O	ROS1	glioblastoma																																	ENST00000535237.1				Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma	GOPC/ROS1(14)	0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(802-804)Gca>Aca		golgi-associated PDZ and coiled-coil motif containing							254.0	191.0	213.0					6																	117894644		2203	4300	6503	SO:0001583	missense	57120							g.chr6:117894644C>T	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.802G>A	6.37:g.117894644C>T	ENSP00000357484:p.Ala268Thr					GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Missense_Mutation_p.A260T|GOPC_ENST00000368498.2_Missense_Mutation_p.A268T	p.A268T						GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	5	1031	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)						A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	c.802G>A	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555398	0.86231	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	T;T;T	0.15603	2.42;2.41;2.41	5.76	5.76	0.90799	PDZ/DHR/GLGF (1);	0.109676	0.64402	D	0.000005	T	0.08403	0.0209	L	0.29908	0.895	0.45762	D	0.998657	B;B;B	0.28233	0.077;0.204;0.096	B;B;B	0.24701	0.019;0.055;0.046	T	0.13602	-1.0503	10	0.31617	T	0.26	-8.1271	20.3242	0.98691	0.0:1.0:0.0:0.0	.	260;268;268	Q9HD26-2;Q9HD26;F5H1Y4	.;GOPC_HUMAN;.	T	260;268;268	ENSP00000052569:A260T;ENSP00000357484:A268T;ENSP00000445690:A268T	ENSP00000052569:A260T	A	-	1	0	GOPC	118001337	1.000000	0.71417	0.624000	0.29186	0.981000	0.71138	5.158000	0.64917	2.882000	0.98803	0.655000	0.94253	GCA		0.433	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		4	122	0	0	0	1	0	4	122				
LRIG2	9860	broad.mit.edu	37	1	113657236	113657236	+	Silent	SNP	C	C	T	rs189820116	byFrequency	TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:113657236C>T	ENST00000361127.5	+	15	2466	c.2268C>T	c.(2266-2268)gcC>gcT	p.A756A	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	756	Ig-like C2-type 3.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TTGTAGATGCCGGGCTAGAAG	0.473													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19764	0.001		0.0	False		,,,				2504	0.0					ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2266-2268)gcC>gcT		leucine-rich repeats and immunoglobulin-like domains 2							137.0	128.0	131.0					1																	113657236		2203	4300	6503	SO:0001819	synonymous_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113657236C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2268C>T	1.37:g.113657236C>T						LRIG2_ENST00000492207.1_3'UTR	p.A756A	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	15	2466	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	756			Ig-like C2-type 3.		Q9NSN2	Silent	SNP	ENST00000361127.5	37	c.2268C>T	CCDS30808.1																																																																																				0.473	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		4	144	0	0	0	1	0	4	144				
RANGAP1	5905	broad.mit.edu	37	22	41650402	41650402	+	Silent	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr22:41650402C>T	ENST00000455915.2	-	10	2639	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E|RANGAP1_ENST00000356244.3_Silent_p.E390E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562																																						ENST00000455915.2																			1	Substitution - coding silent(1)	p.E390E(1)	kidney(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1168-1170)gaG>gaA		Ran GTPase activating protein 1							233.0	159.0	184.0					22																	41650402		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650402C>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1170G>A	22.37:g.41650402C>T						RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E	p.E390E			P46060	RAGP1_HUMAN			10	2639	-			390			Asp/Glu-rich (highly acidic).		Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.1170G>A	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		3	51	0	0	0	1	0	3	51				
TP53	7157	broad.mit.edu	37	17	7577108	7577108	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr17:7577108C>T	ENST00000269305.4	-	8	1019	c.830G>A	c.(829-831)tGt>tAt	p.C277Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C277Y|TP53_ENST00000420246.2_Missense_Mutation_p.C277Y|TP53_ENST00000445888.2_Missense_Mutation_p.C277Y|TP53_ENST00000455263.2_Missense_Mutation_p.C277Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTCCCAGGACAGGCACAAAC	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		61	Substitution - Missense(40)|Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(4)|Unknown(2)	p.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	lung(11)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|bone(6)|upper_aerodigestive_tract(5)|oesophagus(5)|stomach(4)|urinary_tract(4)|central_nervous_system(3)|skin(2)|cervix(1)|peritoneum(1)|large_intestine(1)|ovary(1)|prostate(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(829-831)tGt>tAt	Other conserved DNA damage response genes	tumor protein p53							72.0	62.0	66.0					17																	7577108		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577108C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.830G>A	17.37:g.7577108C>T	ENSP00000269305:p.Cys277Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.C277Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C277Y|TP53_ENST00000359597.4_Missense_Mutation_p.C277Y|TP53_ENST00000455263.2_Missense_Mutation_p.C277Y	p.C277Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	962	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	277		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.830G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273787	0.80580	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.044315	0.85682	D	0.000000	D	0.99880	0.9943	M	0.91872	3.25	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.91635	0.982;0.999;0.99;0.986	D	0.96422	0.9312	10	0.87932	D	0	-10.0792	16.1198	0.81342	0.0:1.0:0.0:0.0	.	277;277;277;277	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	277;277;277;277;277;266;145	ENSP00000352610:C277Y;ENSP00000269305:C277Y;ENSP00000398846:C277Y;ENSP00000391127:C277Y;ENSP00000391478:C277Y;ENSP00000425104:C145Y	ENSP00000269305:C277Y	C	-	2	0	TP53	7517833	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.781000	0.68964	2.667000	0.90743	0.462000	0.41574	TGT		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	14	0	0	0	1	0	12	14				
RIMKLA	284716	broad.mit.edu	37	1	42870214	42870214	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:42870214G>A	ENST00000431473.3	+	3	556	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	143	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						AATGATTGATGAAGCTGAGCC	0.567																																						ENST00000431473.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(427-429)Gaa>Aaa		ribosomal modification protein rimK-like family member A							82.0	81.0	82.0					1																	42870214		2203	4300	6503	SO:0001583	missense	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42870214G>A	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.427G>A	1.37:g.42870214G>A	ENSP00000414330:p.Glu143Lys						p.E143K	NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN			3	556	+			143			ATP-grasp.		Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	c.427G>A	CCDS466.2	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781022	0.70222	.	.	ENSG00000177181	ENST00000410070;ENST00000431473	.	.	.	5.46	5.46	0.80206	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.052048	0.85682	D	0.000000	T	0.58264	0.2110	L	0.40543	1.245	0.58432	D	0.999993	P	0.42296	0.775	P	0.49140	0.601	T	0.50215	-0.8854	9	0.18276	T	0.48	-10.3555	16.8027	0.85618	0.0:0.0:1.0:0.0	.	143	Q8IXN7	RIMKA_HUMAN	K	19;143	.	ENSP00000387064:E19K	E	+	1	0	RIMKLA	42642801	1.000000	0.71417	0.996000	0.52242	0.507000	0.33981	8.916000	0.92745	2.567000	0.86603	0.491000	0.48974	GAA		0.567	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		29	46	0	0	0	1	0	29	46				
USHBP1	83878	broad.mit.edu	37	19	17373549	17373549	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:17373549T>C	ENST00000252597.3	-	4	627	c.454A>G	c.(454-456)Aca>Gca	p.T152A	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.T88A	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCTTCGCTTGTGCCTTCGAAC	0.672																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(454-456)Aca>Gca		Usher syndrome 1C binding protein 1							60.0	59.0	60.0					19																	17373549		2203	4299	6502	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17373549T>C	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.454A>G	19.37:g.17373549T>C	ENSP00000252597:p.Thr152Ala					USHBP1_ENST00000431146.2_Missense_Mutation_p.T88A|USHBP1_ENST00000598570.1_5'UTR	p.T152A	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			4	627	-			152						Missense_Mutation	SNP	ENST00000252597.3	37	c.454A>G	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	T	7.532	0.658925	0.14645	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.16743	2.32;2.32	3.85	-3.24	0.05094	.	1.002530	0.08044	N	0.995568	T	0.07818	0.0196	N	0.14661	0.345	0.09310	N	1	B;B;B	0.18461	0.028;0.007;0.028	B;B;B	0.16722	0.016;0.003;0.011	T	0.41770	-0.9490	10	0.17369	T	0.5	-0.0129	5.4612	0.16617	0.0:0.4209:0.1557:0.4234	.	88;152;152	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	A	152;88;152	ENSP00000252597:T152A;ENSP00000407902:T88A	ENSP00000252597:T152A	T	-	1	0	USHBP1	17234549	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.716000	0.04991	-0.874000	0.04027	-0.644000	0.03951	ACA		0.672	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		34	77	0	0	0	1	0	34	77				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		5	15	1	0	0.00116845	1	0.00118563	5	15				
ABCB5	340273	broad.mit.edu	37	7	20766690	20766690	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr7:20766690C>T	ENST00000404938.2	+	22	3305	c.2653C>T	c.(2653-2655)Cgt>Tgt	p.R885C	ABCB5_ENST00000258738.6_Missense_Mutation_p.R440C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	885	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGAGAATATACGTACTATAGT	0.323																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(2653-2655)Cgt>Tgt		ATP-binding cassette, sub-family B (MDR/TAP), member 5							95.0	100.0	99.0					7																	20766690		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20766690C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2653C>T	7.37:g.20766690C>T	ENSP00000384881:p.Arg885Cys					ABCB5_ENST00000258738.6_Missense_Mutation_p.R440C	p.R885C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			22	3305	+			440					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.2653C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630084	0.67015	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.91996	-2.95;-2.95	4.54	3.66	0.41972	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.64402	D	0.000013	D	0.96839	0.8968	H	0.95114	3.625	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97146	0.9828	10	0.87932	D	0	.	11.2028	0.48751	0.0:0.9093:0.0:0.0907	.	885;63;440	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	C	885;440	ENSP00000384881:R885C;ENSP00000258738:R440C	ENSP00000258738:R440C	R	+	1	0	ABCB5	20733215	0.980000	0.34600	0.997000	0.53966	0.992000	0.81027	1.176000	0.31957	1.510000	0.48803	0.655000	0.94253	CGT		0.323	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		5	49	0	0	0	1	0	5	49				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			0							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		6	27	0	0	0	1	0	6	27				
TTC37	9652	broad.mit.edu	37	5	94805499	94805499	+	Missense_Mutation	SNP	C	C	T	rs369648889		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr5:94805499C>T	ENST00000358746.2	-	41	4779	c.4481G>A	c.(4480-4482)cGc>cAc	p.R1494H		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1494						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCCCATTTTGCGTTTGAATTG	0.363																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(4480-4482)cGc>cAc		tetratricopeptide repeat domain 37		C	HIS/ARG	0,4406		0,0,2203	71.0	79.0	76.0		4481	4.2	0.9	5		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTC37	NM_014639.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1494/1565	94805499	1,13005	2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94805499C>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4481G>A	5.37:g.94805499C>T	ENSP00000351596:p.Arg1494His						p.R1494H	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			41	4779	-			1494					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.4481G>A	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	9.938	1.216759	0.22373	0.0	1.16E-4	ENSG00000198677	ENST00000358746	T	0.78595	-1.19	5.06	4.17	0.49024	.	0.384366	0.29253	N	0.012697	T	0.70072	0.3182	L	0.54323	1.7	0.26246	N	0.978793	P	0.44380	0.834	B	0.33750	0.169	T	0.64398	-0.6417	10	0.48119	T	0.1	.	14.6418	0.68732	0.1468:0.8532:0.0:0.0	.	1494	Q6PGP7	TTC37_HUMAN	H	1494	ENSP00000351596:R1494H	ENSP00000351596:R1494H	R	-	2	0	TTC37	94831255	1.000000	0.71417	0.923000	0.36655	0.067000	0.16453	1.681000	0.37618	1.085000	0.41206	0.484000	0.47621	CGC		0.363	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		32	73	0	0	0	1	0	32	73				
TP53	7157	broad.mit.edu	37	17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T	rs587781288		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr17:7578508C>T	ENST00000269305.4	-	5	611	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000420246.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGCACAGGGCAGGTCTTGGC	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		121	Substitution - Missense(99)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Complex - deletion inframe(1)	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(1)	large_intestine(23)|breast(17)|ovary(12)|haematopoietic_and_lymphoid_tissue(7)|oesophagus(7)|liver(7)|upper_aerodigestive_tract(6)|central_nervous_system(6)|endometrium(6)|urinary_tract(6)|lung(5)|prostate(5)|bone(5)|stomach(4)|soft_tissue(2)|biliary_tract(1)|testis(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM993216	TP53	M		c.(421-423)tGc>tAc	Other conserved DNA damage response genes	tumor protein p53							56.0	55.0	55.0					17																	7578508		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578508C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.422G>A	17.37:g.7578508C>T	ENSP00000269305:p.Cys141Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y	p.C141Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	554	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	141		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.422G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720132	0.48728	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.48	4.5	0.54988	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99832	0.9924	M	0.90309	3.105	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.987;1.0;0.999;1.0;1.0	D	0.96735	0.9542	10	0.87932	D	0	-26.1094	13.743	0.62860	0.1552:0.8448:0.0:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141Y;ENSP00000352610:C141Y;ENSP00000269305:C141Y;ENSP00000398846:C141Y;ENSP00000391127:C141Y;ENSP00000391478:C141Y;ENSP00000425104:C9Y;ENSP00000423862:C48Y;ENSP00000424104:C141Y	ENSP00000269305:C141Y	C	-	2	0	TP53	7519233	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	6.016000	0.70798	1.427000	0.47276	-0.182000	0.12963	TGC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	28	0	0	0	1	0	29	28				
AQP4	361	broad.mit.edu	37	18	24436242	24436242	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr18:24436242A>G	ENST00000383168.4	-	5	1033	c.905T>C	c.(904-906)aTt>aCt	p.I302T	AQP4_ENST00000440832.3_Missense_Mutation_p.I280T|AQP4_ENST00000583022.1_5'Flank|AQP4_ENST00000581374.1_Missense_Mutation_p.I280T|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	302					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GTCAACGTCAATCACATGCAC	0.498																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(904-906)aTt>aCt		aquaporin 4							356.0	300.0	319.0					18																	24436242		2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436242A>G	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.905T>C	18.37:g.24436242A>G	ENSP00000372654:p.Ile302Thr					AQP4_ENST00000581374.1_Missense_Mutation_p.I280T|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.I280T|AQP4-AS1_ENST00000579964.1_RNA	p.I302T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			5	1033	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		302					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.905T>C	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.334737	0.41297	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.87809	-2.3	5.75	4.59	0.56863	.	0.385711	0.32655	N	0.005809	T	0.79793	0.4507	L	0.27053	0.805	0.45129	D	0.998142	B	0.18863	0.031	B	0.14023	0.01	T	0.74990	-0.3475	10	0.87932	D	0	.	11.7415	0.51796	0.9309:0.0:0.0691:0.0	.	302	P55087	AQP4_HUMAN	T	302;282;198	ENSP00000372654:I302T	ENSP00000372654:I302T	I	-	2	0	AQP4	22690240	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	3.393000	0.52544	1.000000	0.39049	0.528000	0.53228	ATT		0.498	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		91	149	0	0	0	1	0	91	149				
ATRX	546	broad.mit.edu	37	X	76814253	76814253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chrX:76814253G>A	ENST00000373344.5	-	29	6605	c.6391C>T	c.(6391-6393)Cga>Tga	p.R2131*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2093*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2131	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.		R -> Q (in MRXSHF1; originally reported as Juberg-Marsidi syndrome). {ECO:0000269|PubMed:8630485}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATAATTACTCGATTAGCAGCT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6391-6393)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						70.0	68.0	69.0					X																	76814253		2203	4295	6498	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814253G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6391C>T	X.37:g.76814253G>A	ENSP00000362441:p.Arg2131*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2093*	p.R2131*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6605	-			2131		R -> Q (in MRXSHF1; originally reported as Juberg-Marsidi syndrome).	Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.6391C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	48	14.573530	0.99801	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.21	4.31	0.51392	.	0.000000	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.048	12.1564	0.54079	0.0:0.0:0.6005:0.3995	.	.	.	.	X	2131;2093	.	ENSP00000362441:R2131X	R	-	1	2	ATRX	76700909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.386000	0.34419	0.903000	0.36546	0.600000	0.82982	CGA		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		82	15	0	0	0	1	0	82	15				
RCN3	57333	broad.mit.edu	37	19	50031744	50031744	+	Silent	SNP	A	A	G	rs200270685		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:50031744A>G	ENST00000270645.3	+	2	462	c.15A>G	c.(13-15)ccA>ccG	p.P5P		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	5						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TGTGGCGACCATCAGTTCTGC	0.667													A|||	1	0.000199681	0.0	0.0	5008	,	,		14159	0.0		0.001	False		,,,				2504	0.0					ENST00000270645.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(13-15)ccA>ccG		reticulocalbin 3, EF-hand calcium binding domain		A		1,4405	2.1+/-5.4	0,1,2202	179.0	188.0	185.0		15	-8.4	0.0	19		185	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	RCN3	NM_020650.2		0,7,6496	GG,GA,AA		0.0698,0.0227,0.0538		5/329	50031744	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50031744A>G	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.15A>G	19.37:g.50031744A>G							p.P5P	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	2	462	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	5					Q9HBZ8	Silent	SNP	ENST00000270645.3	37	c.15A>G	CCDS12771.1																																																																																				0.667	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		145	173	0	0	0	1	0	145	173				
DLK2	65989	broad.mit.edu	37	6	43418746	43418746	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:43418746C>T	ENST00000357338.3	-	6	1383	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	DLK2_ENST00000372485.1_Missense_Mutation_p.R222Q|DLK2_ENST00000372488.3_Missense_Mutation_p.R228Q|DLK2_ENST00000414245.1_Missense_Mutation_p.R222Q	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	228	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GACACGGTCCCGACAGCGGGC	0.627																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(682-684)cGg>cAg		delta-like 2 homolog (Drosophila)							58.0	62.0	61.0					6																	43418746		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418746C>T	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.683G>A	6.37:g.43418746C>T	ENSP00000349893:p.Arg228Gln					DLK2_ENST00000414245.1_Missense_Mutation_p.R222Q|DLK2_ENST00000372485.1_Missense_Mutation_p.R222Q|DLK2_ENST00000372488.3_Missense_Mutation_p.R228Q	p.R228Q	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1383	-	all_lung(25;0.00536)		228			EGF-like 6; calcium-binding (Potential).		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.683G>A	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.167884|4.167884	0.78339|0.78339	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000430324|ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	.|D;D;D;D	.|0.91631	.|-2.88;-2.88;-2.88;-2.88	4.94|4.94	4.94|4.94	0.65067|0.65067	.|EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.|0.441446	.|0.23575	.|N	.|0.046717	T|T	0.78528|0.78528	0.4297|0.4297	N|N	0.05510|0.05510	-0.035|-0.035	0.29794|0.29794	N|N	0.832952|0.832952	.|D	.|0.64830	.|0.994	.|P	.|0.52881	.|0.712	T|T	0.73288|0.73288	-0.4030|-0.4030	5|10	.|0.22109	.|T	.|0.4	.|.	6.7643|6.7643	0.23558|0.23558	0.0:0.775:0.0:0.225|0.0:0.775:0.0:0.225	.|.	.|228	.|Q6UY11	.|DLK2_HUMAN	R|Q	134|222;228;228;222	.|ENSP00000361563:R222Q;ENSP00000361566:R228Q;ENSP00000349893:R228Q;ENSP00000398906:R222Q	.|ENSP00000349893:R228Q	G|R	-|-	1|2	0|0	DLK2|DLK2	43526724|43526724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	3.634000|3.634000	0.54302|0.54302	2.454000|2.454000	0.82982|0.82982	0.462000|0.462000	0.41574|0.41574	GGG|CGG		0.627	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		31	68	0	0	0	1	0	31	68				
ZNF576	79177	broad.mit.edu	37	19	44103081	44103081	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:44103081G>A	ENST00000336564.4	+	3	338	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	ZNF576_ENST00000525771.1_Missense_Mutation_p.V62M|ZNF576_ENST00000528387.1_Missense_Mutation_p.V62M|ZNF576_ENST00000533118.1_Missense_Mutation_p.V62M|ZNF576_ENST00000529930.1_Missense_Mutation_p.V62M|SRRM5_ENST00000607544.1_Intron|IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000391965.2_Missense_Mutation_p.V62M|SRRM5_ENST00000526798.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	62					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				AGCGGACTTCGTGGCCCAGAA	0.647																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(184-186)Gtg>Atg		zinc finger protein 576							84.0	98.0	93.0					19																	44103081		2203	4300	6503	SO:0001583	missense	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103081G>A	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.184G>A	19.37:g.44103081G>A	ENSP00000337852:p.Val62Met					SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Missense_Mutation_p.V62M|ZNF576_ENST00000391965.2_Missense_Mutation_p.V62M|ZNF576_ENST00000528387.1_Missense_Mutation_p.V62M|ZNF576_ENST00000525771.1_Missense_Mutation_p.V62M|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Missense_Mutation_p.V62M	p.V62M	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	338	+		Prostate(69;0.0199)	62					Q9BU03	Missense_Mutation	SNP	ENST00000336564.4	37	c.184G>A	CCDS12625.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955503	0.73902	.	.	ENSG00000124444	ENST00000391965;ENST00000525771;ENST00000533118;ENST00000528387;ENST00000529930;ENST00000336564	T;T;T;T;T;T	0.01295	5.04;5.04;5.04;5.04;5.04;5.04	3.93	3.93	0.45458	.	0.271361	0.29822	N	0.011115	T	0.02455	0.0075	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.71331	-0.4625	10	0.44086	T	0.13	-12.0685	11.7501	0.51843	0.0:0.0:1.0:0.0	.	62	Q9H609	ZN576_HUMAN	M	62	ENSP00000375827:V62M;ENSP00000436182:V62M;ENSP00000435899:V62M;ENSP00000435934:V62M;ENSP00000435463:V62M;ENSP00000337852:V62M	ENSP00000337852:V62M	V	+	1	0	ZNF576	48794921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.283000	0.33237	2.500000	0.84329	0.591000	0.81541	GTG		0.647	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		10	118	0	0	0	1	0	10	118				
FSTL5	56884	broad.mit.edu	37	4	162402315	162402315	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr4:162402315C>T	ENST00000306100.5	-	13	1901	c.1465G>A	c.(1465-1467)Gtc>Atc	p.V489I	FSTL5_ENST00000536695.1_Missense_Mutation_p.V488I|FSTL5_ENST00000427802.2_Missense_Mutation_p.V479I|FSTL5_ENST00000379164.4_Missense_Mutation_p.V488I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	489						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGGGACAGACTTCATCCTGT	0.358																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(1465-1467)Gtc>Atc		follistatin-like 5							159.0	155.0	157.0					4																	162402315		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162402315C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1465G>A	4.37:g.162402315C>T	ENSP00000305334:p.Val489Ile					FSTL5_ENST00000379164.4_Missense_Mutation_p.V488I|FSTL5_ENST00000536695.1_Missense_Mutation_p.V488I|FSTL5_ENST00000427802.2_Missense_Mutation_p.V479I	p.V489I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	13	1901	-	all_hematologic(180;0.24)		489					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1465G>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670866	0.47781	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.74421	-0.84;-0.83;-0.75;-0.83	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.79759	0.4501	L	0.33624	1.015	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.99	D;D;P	0.74674	0.978;0.984;0.782	T	0.75642	-0.3247	10	0.23891	T	0.37	.	18.3987	0.90509	0.0:1.0:0.0:0.0	.	479;488;489	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	I	489;488;479;488	ENSP00000305334:V489I;ENSP00000368462:V488I;ENSP00000389270:V479I;ENSP00000440409:V488I	ENSP00000305334:V489I	V	-	1	0	FSTL5	162621765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.255000	0.78338	2.566000	0.86566	0.650000	0.86243	GTC		0.358	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		59	100	0	0	0	1	0	59	100				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	71	0	0	0	1	0	4	71				
OR8K3	219473	broad.mit.edu	37	11	56086694	56086694	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr11:56086694G>C	ENST00000312711.1	+	1	912	c.912G>C	c.(910-912)tgG>tgC	p.W304C		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	304						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(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GAAGGACATGGAATAACTTAT	0.328																																						ENST00000312711.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(910-912)tgG>tgC		olfactory receptor, family 8, subfamily K, member 3							41.0	39.0	40.0					11																	56086694		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086694G>C	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.912G>C	11.37:g.56086694G>C	ENSP00000323555:p.Trp304Cys						p.W304C	NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN			1	912	+	Esophageal squamous(21;0.00448)		304					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.912G>C	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	4.608	0.113032	0.08831	.	.	ENSG00000181689	ENST00000312711	T	0.36878	1.23	4.16	1.16	0.20824	.	1.376610	0.04841	N	0.440574	T	0.23133	0.0559	N	0.21282	0.65	0.09310	N	0.999994	B	0.12630	0.006	B	0.15870	0.014	T	0.32322	-0.9911	10	0.62326	D	0.03	.	0.7385	0.00970	0.1928:0.1567:0.3283:0.3221	.	304	Q8NH51	OR8K3_HUMAN	C	304	ENSP00000323555:W304C	ENSP00000323555:W304C	W	+	3	0	OR8K3	55843270	0.005000	0.15991	0.038000	0.18304	0.001000	0.01503	0.172000	0.16704	0.486000	0.27676	-0.553000	0.04205	TGG		0.328	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		16	39	0	0	0	1	0	16	39				
KDF1	126695	broad.mit.edu	37	1	27277235	27277235	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:27277235T>C	ENST00000320567.5	-	3	1140	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		351					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGGAGATCTGCACTGTCAG	0.572																																						ENST00000320567.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(1051-1053)cAg>cGg		chromosome 1 open reading frame 172							125.0	111.0	115.0					1																	27277235		2203	4300	6503	SO:0001583	missense	126695							g.chr1:27277235T>C																												ENST00000320567.5:c.1052A>G	1.37:g.27277235T>C	ENSP00000319179:p.Gln351Arg						p.Q351R	NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	3	1140	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	351					Q5QP32|Q8N0S7	Missense_Mutation	SNP	ENST00000320567.5	37	c.1052A>G	CCDS293.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307316	0.60305	.	.	ENSG00000175707	ENST00000320567	T	0.30448	1.53	5.53	5.53	0.82687	.	0.068984	0.64402	D	0.000016	T	0.29556	0.0737	L	0.27053	0.805	0.39862	D	0.973396	P	0.46912	0.886	P	0.47573	0.55	T	0.05733	-1.0867	10	0.37606	T	0.19	.	14.2311	0.65892	0.0:0.0:0.0:1.0	.	351	Q8NAX2	CA172_HUMAN	R	351	ENSP00000319179:Q351R	ENSP00000319179:Q351R	Q	-	2	0	C1orf172	27149822	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.486000	0.66856	2.108000	0.64289	0.533000	0.62120	CAG		0.572	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			9	75	0	0	0	1	0	9	75				
CCDC116	164592	broad.mit.edu	37	22	21989105	21989105	+	Silent	SNP	C	C	T	rs370484007		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr22:21989105C>T	ENST00000292779.3	+	4	914	c.753C>T	c.(751-753)ggC>ggT	p.G251G	CCDC116_ENST00000607942.1_Silent_p.G251G	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	251										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CAAGCTCTGGCGTGCCTGAAG	0.572																																						ENST00000292779.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(751-753)ggC>ggT		coiled-coil domain containing 116		C		1,4405	2.1+/-5.4	0,1,2202	84.0	87.0	86.0		753	-1.3	0.0	22		86	0,8600		0,0,4300	no	coding-synonymous	CCDC116	NM_152612.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		251/614	21989105	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	164592							g.chr22:21989105C>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.753C>T	22.37:g.21989105C>T							p.G251G	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			4	914	+	Colorectal(54;0.105)		251					Q8N9Y9	Silent	SNP	ENST00000292779.3	37	c.753C>T	CCDS13791.1																																																																																				0.572	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		4	176	0	0	0	1	0	4	176				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			38	54	0	0	0	1	0	38	54				
TRIM51	84767	broad.mit.edu	37	11	55658975	55658975	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr11:55658975T>C	ENST00000449290.2	+	7	1318	c.1226T>C	c.(1225-1227)gTa>gCa	p.V409A	TRIM51_ENST00000244891.3_Missense_Mutation_p.V266A	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	409	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ACCAGCACAGTAGGATTATTC	0.463																																						ENST00000449290.2																			0											c.(1225-1227)gTa>gCa		tripartite motif-containing 51							65.0	62.0	63.0					11																	55658975		2164	4208	6372	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658975T>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1226T>C	11.37:g.55658975T>C	ENSP00000395086:p.Val409Ala					TRIM51_ENST00000244891.3_Missense_Mutation_p.V266A	p.V409A	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	1318	+			409			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1226T>C		.	.	.	.	.	.	.	.	.	.	.	14.28	2.488677	0.44249	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.75589	-0.95;-0.95	1.36	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.84392	0.5462	M	0.86343	2.81	0.23298	N	0.997957	D	0.76494	0.999	D	0.73380	0.98	T	0.70784	-0.4778	9	0.87932	D	0	.	5.1325	0.14917	0.0:0.0:0.0:1.0	.	409	Q9BSJ1	SPRY5_HUMAN	A	409;266	ENSP00000395086:V409A;ENSP00000244891:V266A	ENSP00000244891:V266A	V	+	2	0	SPRYD5	55415551	0.904000	0.30761	0.006000	0.13384	0.073000	0.16967	2.963000	0.49184	0.540000	0.28808	0.136000	0.15936	GTA		0.463	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		48	70	0	0	0	1	0	48	70				
LATS1	9113	broad.mit.edu	37	6	150005421	150005421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:150005421C>T	ENST00000543571.1	-	4	1351	c.804G>A	c.(802-804)tgG>tgA	p.W268*	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Nonsense_Mutation_p.W268*|LATS1_ENST00000392273.3_Nonsense_Mutation_p.W268*	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGTTTGGTTCCCATGAAGGGG	0.547																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(802-804)tgG>tgA		large tumor suppressor kinase 1							183.0	177.0	179.0					6																	150005421		2203	4300	6503	SO:0001587	stop_gained	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150005421C>T	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.804G>A	6.37:g.150005421C>T	ENSP00000437550:p.Trp268*					LATS1_ENST00000392273.3_Nonsense_Mutation_p.W268*|LATS1_ENST00000253339.5_Nonsense_Mutation_p.W268*|LATS1_ENST00000542747.1_5'UTR	p.W268*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1351	-		Ovarian(120;0.0164)	268						Nonsense_Mutation	SNP	ENST00000543571.1	37	c.804G>A	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908654	0.92107	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	.	.	.	4.83	4.83	0.62350	.	0.000000	0.49305	D	0.000156	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8958	0.88887	0.0:1.0:0.0:0.0	.	.	.	.	X	268	.	.	W	-	3	0	LATS1	150047114	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.221000	0.72209	0.655000	0.94253	TGG		0.547	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		70	98	0	0	0	1	0	70	98				
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	lincRNA	DEL	AT	AT	-	rs139058677		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342																																						ENST00000473595.1																			0																																																			0							g.chr3:161146872_161146873delAT																													3.37:g.161146882_161146883delAT								NR_102265.1						0	1231	+									RNA	DEL	ENST00000473595.1	37																																																																																						0.342	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			7	30						7	30	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-162)gcccgc>gcGCCccgc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup					KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR	p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1177_1178	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	53			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		4	9						4	9	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75557164	75557165	+	Frame_Shift_Ins	INS	-	-	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr10:75557164_75557165insA	ENST00000605216.1	+	18	3665_3666	c.3448_3449insA	c.(3448-3450)gaafs	p.E1150fs	RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.E1155fs|ZSWIM8_ENST00000604729.1_Frame_Shift_Ins_p.E1155fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.E1117fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.E1150fs|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1150	Ser-rich.						zinc ion binding (GO:0008270)										CAGTGCCCCTGAAACAACATCG	0.559																																						ENST00000604729.1																			0											c.(3463-3465)aacfs		zinc finger, SWIM-type containing 8																																				SO:0001589	frameshift_variant	23053							g.chr10:75557164_75557165insA	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3451dupA	10.37:g.75557167_75557167dupA	ENSP00000474748:p.Glu1150fs					ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.N1150fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.N1150fs|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.N1117fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.N1155fs	p.N1155fs							18	3760_3761	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	ENST00000605216.1	37	c.3463_3464insA																																																																																					0.559	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		40	38						40	38	---	---	---	---
LHX5	64211	broad.mit.edu	37	12	113901233	113901233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:113901233delC	ENST00000261731.3	-	5	1544	c.971delG	c.(970-972)ggafs	p.G324fs		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	324					cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TTCCAGCGCTCCCAGCGGCGT	0.731																																						ENST00000261731.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						c.(970-972)gafs		LIM homeobox 5							7.0	10.0	9.0					12																	113901233		2034	3977	6011	SO:0001589	frameshift_variant	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113901233delC	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"""Homeoboxes / LIM class"""	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.971delG	12.37:g.113901233delC	ENSP00000261731:p.Gly324fs						p.G324fs	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN			5	1544	-			324					Q32MA4	Frame_Shift_Del	DEL	ENST00000261731.3	37	c.971delG	CCDS9171.1																																																																																				0.731	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363		2	4						2	4	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-	rs572079359	byFrequency	TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr15:23299147delA	ENST00000560464.1	-	0	4510									hect domain and RLD 2 pseudogene 2																		ACATTCAAAGAAAAAAAAAAA	0.313													|||unknown(HR)	437	0.0872604	0.1884	0.1182	5008	,	,		18000	0.0308		0.0268	False		,,,				2504	0.0491					ENST00000560464.1																			0																																																			0							g.chr15:23299147delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299147delA														0	4510	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.313	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			6	9						6	9	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	0							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			6	11						6	11	---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(622-624)ggfs		zinc finger protein 563							124.0	126.0	126.0					19																	12430217		2203	4300	6503	SO:0001589	frameshift_variant	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430217delA	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.622delT	19.37:g.12430217delA	ENSP00000293725:p.Trp208fs					ZNF563_ENST00000595977.1_Intron	p.W208fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	827	-			208					B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	c.622delT	CCDS12270.1																																																																																				0.393	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		10	240						10	240	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15333058	15333058	+	RNA	DEL	A	A	-			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr21:15333058delA	ENST00000344693.5	-	0	736					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		cccagaatacaacactcaaca	0.308																																						ENST00000344693.5																			0																																																			0							g.chr21:15333058delA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15333058delA								NR_027270.1						0	736	-									RNA	DEL	ENST00000344693.5	37																																																																																						0.308	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			7	10						7	10	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		7	41						7	41	---	---	---	---
