#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
ESPNP	284729	broad.mit.edu	37	1	17023403	17023403	+	RNA	SNP	G	G	A	rs10907267	byFrequency	TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr1:17023403G>A	ENST00000492551.1	-	0	1544					NR_026567.1				espin pseudogene																		GGAACATCACGTTGAAAGACT	0.622													g|||	1575	0.314497	0.1225	0.3573	5008	,	,		39681	0.4563		0.332	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17023403G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023403G>A								NR_026567.1						0	1544	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			4	21	0	0	0	1	0	4	21				
SLC35G3	146861	broad.mit.edu	37	17	33521273	33521273	+	Silent	SNP	C	C	T	rs539353698		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr17:33521273C>T	ENST00000297307.5	-	1	139	c.54G>A	c.(52-54)ccG>ccA	p.P18P	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	18						integral component of membrane (GO:0016021)											GAGCGGAGGGCGGCGATGGGT	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15426	0.001		0.0	False		,,,				2504	0.0					ENST00000297307.5																			0											c.(52-54)ccG>ccA		solute carrier family 35, member G3							63.0	63.0	63.0					17																	33521273		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33521273C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.54G>A	17.37:g.33521273C>T							p.P18P	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	139	-			18					B9EGE9	Silent	SNP	ENST00000297307.5	37	c.54G>A	CCDS11293.1																																																																																				0.667	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		20	41	0	0	0	1	0	20	41				
ATRX	546	broad.mit.edu	37	X	76874351	76874351	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:76874351C>A	ENST00000373344.5	-	21	5585	c.5371G>T	c.(5371-5373)Gat>Tat	p.D1791Y	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1753Y	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1791					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						ATGGTAGAATCTGCACACTGA	0.338			"""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.(5371-5373)Gat>Tat		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						117.0	101.0	107.0					X																	76874351		2203	4294	6497	SO:0001583	missense	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:76874351C>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.5371G>T	X.37:g.76874351C>A	ENSP00000362441:p.Asp1791Tyr					ATRX_ENST00000395603.3_Missense_Mutation_p.D1753Y|ATRX_ENST00000480283.1_5'UTR	p.D1791Y	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			21	5585	-			1791					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5371G>T	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.67|19.67	3.870246|3.870246	0.72065|0.72065	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000373344;ENST00000395603|ENST00000400866	D;D|.	0.93763|.	-3.28;-3.28|.	5.41|5.41	4.55|4.55	0.56014|0.56014	SNF2-related (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.78194|0.78194	0.4245|0.4245	M|M	0.87900|0.87900	2.915|2.915	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.80591|0.80591	-0.1314|-0.1314	10|5	0.87932|.	D|.	0|.	-10.1943|-10.1943	13.1275|13.1275	0.59364|0.59364	0.0:0.9206:0.0:0.0794|0.0:0.9206:0.0:0.0794	.|.	1753;1791|.	P46100-4;P46100|.	.;ATRX_HUMAN|.	Y|H	1791;1753|79	ENSP00000362441:D1791Y;ENSP00000378967:D1753Y|.	ENSP00000362441:D1791Y|.	D|Q	-|-	1|3	0|2	ATRX|ATRX	76761007|76761007	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.986000|0.986000	0.74619|0.74619	7.459000|7.459000	0.80802|0.80802	1.036000|1.036000	0.39998|0.39998	0.544000|0.544000	0.68410|0.68410	GAT|CAG		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		16	15	1	0	1.02788e-11	1	1.14469e-11	16	15				
KRTAP10-5	386680	broad.mit.edu	37	21	46000097	46000097	+	Missense_Mutation	SNP	C	C	A	rs376855583		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr21:46000097C>A	ENST00000400372.1	-	1	384	c.359G>T	c.(358-360)tGc>tTc	p.C120F	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	120	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AGAGGCACAGCAAGTTGGCTG	0.607																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(358-360)tGc>tTc		keratin associated protein 10-5							121.0	122.0	122.0					21																	46000097		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:46000097C>A	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.359G>T	21.37:g.46000097C>A	ENSP00000383223:p.Cys120Phe					TSPEAR_ENST00000323084.4_Intron	p.C120F	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	384	-			120			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.359G>T	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	c	9.203	1.029049	0.19512	.	.	ENSG00000241123	ENST00000400372	T	0.03717	3.83	3.27	3.27	0.37495	.	.	.	.	.	T	0.28366	0.0701	H	0.97465	4.01	0.38000	D	0.934195	D	0.69078	0.997	D	0.87578	0.998	T	0.54002	-0.8358	9	0.87932	D	0	.	12.3364	0.55069	0.0:1.0:0.0:0.0	.	120	P60370	KR105_HUMAN	F	120	ENSP00000383223:C120F	ENSP00000383223:C120F	C	-	2	0	KRTAP10-5	44824525	0.182000	0.23173	0.851000	0.33527	0.275000	0.26752	0.179000	0.16840	1.539000	0.49286	0.455000	0.32223	TGC		0.607	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			4	151	1	0	1	1	1	4	151				
DNM1P47	100216544	broad.mit.edu	37	15	102303075	102303075	+	RNA	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:102303075C>T	ENST00000561463.1	+	0	11121									DNM1 pseudogene 47																		GTGGAGGAGTCGGCAGAGCAG	0.602																																						ENST00000561463.1																			0																																																			0							g.chr15:102303075C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102303075C>T														0	11121	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		6	0	0	0	0	1	0	6	0				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	39	0	0	0	1	0	5	39				
PELO	53918	broad.mit.edu	37	5	52097257	52097257	+	Silent	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr5:52097257C>T	ENST00000274311.2	+	3	1726	c.741C>T	c.(739-741)tcC>tcT	p.S247S	PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	247					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				ATGCCTCCTCCGGACACAAGT	0.468																																						ENST00000274311.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(739-741)tcC>tcT		pelota homolog (Drosophila)							53.0	56.0	55.0					5																	52097257		2203	4300	6503	SO:0001819	synonymous_variant	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52097257C>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.741C>T	5.37:g.52097257C>T						ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000504086.1_Intron	p.S247S	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN			3	1726	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	247					Q9GZS6|Q9Y306	Silent	SNP	ENST00000274311.2	37	c.741C>T	CCDS3956.1																																																																																				0.468	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		17	47	0	0	0	1	0	17	47				
SPESP1	246777	broad.mit.edu	37	15	69238040	69238040	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:69238040A>C	ENST00000310673.3	+	2	321	c.167A>C	c.(166-168)aAa>aCa	p.K56T	NOX5_ENST00000260364.5_Intron|NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	56					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GGTCGTGAGAAAAAATCTAAC	0.378																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(166-168)aAa>aCa		sperm equatorial segment protein 1							103.0	106.0	105.0					15																	69238040		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238040A>C	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.167A>C	15.37:g.69238040A>C	ENSP00000312284:p.Lys56Thr					NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_3'UTR	p.K56T	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			2	321	+			56					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.167A>C	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992492	0.54041	.	.	ENSG00000258484	ENST00000310673	T	0.27402	1.67	5.32	-4.48	0.03515	.	0.955036	0.08638	N	0.915950	T	0.25938	0.0632	L	0.32530	0.975	0.09310	N	0.999999	D	0.58268	0.982	P	0.52481	0.7	T	0.15636	-1.0430	10	0.51188	T	0.08	-6.8254	3.0718	0.06233	0.3635:0.1186:0.3921:0.1258	.	56	Q6UW49	SPESP_HUMAN	T	56	ENSP00000312284:K56T	ENSP00000312284:K56T	K	+	2	0	SPESP1	67025094	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.346000	0.07760	-0.788000	0.04504	0.528000	0.53228	AAA		0.378	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		18	77	0	0	0	1	0	18	77				
ABCD2	225	broad.mit.edu	37	12	40013106	40013106	+	Silent	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:40013106T>C	ENST00000308666.3	-	1	447	c.312A>G	c.(310-312)acA>acG	p.T104T		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	104	Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGAGCCACCCTGTTTCAGTGG	0.423																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(310-312)acA>acG		ATP-binding cassette, sub-family D (ALD), member 2							74.0	78.0	77.0					12																	40013106		2203	4300	6503	SO:0001819	synonymous_variant	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40013106T>C	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.312A>G	12.37:g.40013106T>C							p.T104T	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			1	447	-			104			Interaction with PEX19.		B2RAM3|Q13210|Q2M3H9	Silent	SNP	ENST00000308666.3	37	c.312A>G	CCDS8734.1																																																																																				0.423	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		4	47	0	0	0	1	0	4	47				
GBA3	57733	broad.mit.edu	37	4	22748921	22748921	+	RNA	SNP	A	A	G			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr4:22748921A>G	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTCCTAGGAATTGATTATTA	0.328																																						ENST00000503442.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							97.0	97.0	97.0					4																	22748921		1805	4067	5872			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22748921A>G	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22748921A>G						GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN			0	377	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.328	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			3	83	0	0	0	1	0	3	83				
CETN1	1068	broad.mit.edu	37	18	580584	580584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr18:580584C>T	ENST00000327228.3	+	1	218	c.176C>T	c.(175-177)gCg>gTg	p.A59V		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	59	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GCCATGAGAGCGCTGGGCTTC	0.552																																						ENST00000327228.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						c.(175-177)gCg>gTg		centrin, EF-hand protein, 1							82.0	62.0	69.0					18																	580584		2203	4300	6503	SO:0001583	missense	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580584C>T	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.176C>T	18.37:g.580584C>T	ENSP00000319052:p.Ala59Val						p.A59V	NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN			1	218	+			59			EF-hand 1.		B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	c.176C>T	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414000	0.62511	.	.	ENSG00000177143	ENST00000327228	T	0.72615	-0.67	5.2	4.33	0.51752	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.64321	0.924	D	0.83944	0.0313	10	0.87932	D	0	.	11.7501	0.51843	0.0:0.9146:0.0:0.0854	.	59	Q12798	CETN1_HUMAN	V	59	ENSP00000319052:A59V	ENSP00000319052:A59V	A	+	2	0	CETN1	570584	1.000000	0.71417	0.211000	0.23655	0.083000	0.17756	7.630000	0.83225	1.565000	0.49641	0.655000	0.94253	GCG		0.552	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		3	40	0	0	0	1	0	3	40				
METTL22	79091	broad.mit.edu	37	16	8729070	8729070	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr16:8729070C>A	ENST00000381920.3	+	5	859	c.601C>A	c.(601-603)Cag>Aag	p.Q201K	METTL22_ENST00000561758.1_Missense_Mutation_p.Q145K|METTL22_ENST00000568967.1_3'UTR	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	201						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						CCTGTTCCGACAGGACCTCTT	0.637																																						ENST00000381920.3																			0				large_intestine(5)|lung(4)	9						c.(601-603)Cag>Aag		methyltransferase like 22							59.0	62.0	61.0					16																	8729070		2066	4220	6286	SO:0001583	missense	79091						methyltransferase activity	g.chr16:8729070C>A	AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.601C>A	16.37:g.8729070C>A	ENSP00000371345:p.Gln201Lys					METTL22_ENST00000561758.1_Missense_Mutation_p.Q145K|METTL22_ENST00000568967.1_3'UTR	p.Q201K	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN			5	859	+			201					B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	ENST00000381920.3	37	c.601C>A	CCDS10533.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.84|14.84	2.655879|2.655879	0.47467|0.47467	.|.	.|.	ENSG00000067365|ENSG00000067365	ENST00000381920|ENST00000163678	T|T	0.05855|0.49139	3.38|0.79	4.99|4.99	-1.07|-1.07	0.09968|0.09968	.|.	0.401387|.	0.24323|.	N|.	0.039538|.	T|T	0.23014|0.23014	0.0556|0.0556	N|N	0.04132|0.04132	-0.27|-0.27	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.13407|.	0.009|.	T|T	0.24621|0.24621	-1.0155|-1.0155	9|7	.|0.87932	.|D	.|0	-12.083|-12.083	4.7064|4.7064	0.12851|0.12851	0.2605:0.5087:0.0:0.2308|0.2605:0.5087:0.0:0.2308	.|.	201|.	Q9BUU2|.	MET22_HUMAN|.	K|K	201|187	ENSP00000371345:Q201K|ENSP00000163678:T187K	.|ENSP00000163678:T187K	Q|T	+|+	1|2	0|0	METTL22|METTL22	8636571|8636571	0.000000|0.000000	0.05858|0.05858	0.129000|0.129000	0.21949|0.21949	0.298000|0.298000	0.27526|0.27526	-0.170000|-0.170000	0.09897|0.09897	0.132000|0.132000	0.18615|0.18615	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.637	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		3	48	1	0	0.115264	1	0.117665	3	48				
SLC28A2	9153	broad.mit.edu	37	15	45559992	45559992	+	Silent	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:45559992T>C	ENST00000347644.3	+	12	1262	c.1197T>C	c.(1195-1197)cgT>cgC	p.R399R	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	399					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	AGCTGCCCCGTGGGTGAGTCC	0.547																																					NSCLC(92;493 1501 26361 28917 47116)	ENST00000347644.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.(1195-1197)cgT>cgC		solute carrier family 28 (concentrative nucleoside transporter), member 2							111.0	120.0	117.0					15																	45559992		2198	4298	6496	SO:0001819	synonymous_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45559992T>C	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1197T>C	15.37:g.45559992T>C						CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	p.R399R	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	12	1262	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	399					A8K7F9|O43239|Q52LZ0	Silent	SNP	ENST00000347644.3	37	c.1197T>C	CCDS10121.1																																																																																				0.547	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		4	123	0	0	0	1	0	4	123				
TIAM2	26230	broad.mit.edu	37	6	155465814	155465814	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr6:155465814T>C	ENST00000461783.3	+	8	2978	c.1705T>C	c.(1705-1707)Ttt>Ctt	p.F569L	TIAM2_ENST00000456144.1_Missense_Mutation_p.F569L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.F569L|TIAM2_ENST00000318981.5_Missense_Mutation_p.F569L|TIAM2_ENST00000529824.2_Missense_Mutation_p.F569L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	569	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTGTGCTCTGTTTGCAGAAGA	0.468																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1705-1707)Ttt>Ctt		T-cell lymphoma invasion and metastasis 2							134.0	123.0	127.0					6																	155465814		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155465814T>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1705T>C	6.37:g.155465814T>C	ENSP00000437188:p.Phe569Leu					TIAM2_ENST00000360366.4_Missense_Mutation_p.F569L|TIAM2_ENST00000529824.2_Missense_Mutation_p.F569L|TIAM2_ENST00000318981.5_Missense_Mutation_p.F569L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.F569L	p.F569L			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	8	2978	+		Ovarian(120;0.196)	569			PH 1.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1705T>C	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.085367	0.36758	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	5.81	1.55	0.23275	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.408600	0.27715	N	0.018160	T	0.31575	0.0801	N	0.11560	0.145	0.80722	D	1	B;B	0.14012	0.007;0.009	B;B	0.12156	0.004;0.007	T	0.06075	-1.0847	10	0.23891	T	0.37	.	8.5247	0.33298	0.0:0.2814:0.0:0.7186	.	569;569	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	L	569;815;569;569;569;569;569	ENSP00000437188:F569L;ENSP00000434901:F569L;ENSP00000407746:F569L;ENSP00000327315:F569L;ENSP00000353528:F569L;ENSP00000433348:F569L	ENSP00000327315:F569L	F	+	1	0	TIAM2	155507506	1.000000	0.71417	0.955000	0.39395	0.827000	0.46813	0.740000	0.26188	0.127000	0.18452	-0.256000	0.11100	TTT		0.468	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		6	60	0	0	0	1	0	6	60				
ATRX	546	broad.mit.edu	37	X	76938029	76938029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:76938029G>A	ENST00000373344.5	-	9	2933	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					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)|p.R907*(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						TTAGGAAGTCGATCTCTTAAT	0.418			"""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"""		2	Substitution - Nonsense(1)|Unknown(1)	p.?(1)|p.R907*(1)	lung(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.(2719-2721)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						189.0	173.0	179.0					X																	76938029		2203	4296	6499	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:76938029G>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.2719C>T	X.37:g.76938029G>A	ENSP00000362441:p.Arg907*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869*|ATRX_ENST00000480283.1_5'UTR	p.R907*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2933	-			907					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2719C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.819821	0.98507	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.79	0.503	0.16940	.	2.134250	0.02681	N	0.109696	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	10.841	4.5137	0.11924	0.0688:0.1999:0.2703:0.461	.	.	.	.	X	907;869;834	.	ENSP00000362441:R907X	R	-	1	2	ATRX	76824685	0.000000	0.05858	0.000000	0.03702	0.502000	0.33828	-0.689000	0.05144	-0.111000	0.12001	0.513000	0.50165	CGA		0.418	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		15	104	0	0	0	1	0	15	104				
TUBA4A	7277	broad.mit.edu	37	2	220115622	220115622	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:220115622A>G	ENST00000248437.4	-	4	972	c.799T>C	c.(799-801)Ttc>Ctc	p.F267L	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000392088.2_Missense_Mutation_p.F252L	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	267					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	GCCAGGGGGAAGTGGATGCGA	0.567																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(754-756)Ttc>Ctc		tubulin, alpha 4a							95.0	90.0	92.0					2																	220115622		2203	4300	6503	SO:0001583	missense	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220115622A>G	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.799T>C	2.37:g.220115622A>G	ENSP00000248437:p.Phe267Leu					TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Missense_Mutation_p.F267L	p.F252L	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1309	-		Renal(207;0.0474)	267					A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	c.754T>C	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.524726	0.64747	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000398989	D;D;D	0.92397	-3.03;-3.03;-3.03	5.44	5.44	0.79542	Tubulin/FtsZ, 2-layer sandwich domain (2);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97645	0.9228	H	0.97940	4.11	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.99160	1.0861	10	0.87932	D	0	.	15.6681	0.77247	1.0:0.0:0.0:0.0	.	267	P68366	TBA4A_HUMAN	L	267;252;114	ENSP00000248437:F267L;ENSP00000375938:F252L;ENSP00000396212:F114L	ENSP00000248437:F267L	F	-	1	0	TUBA4A	219823866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.001000	0.93568	2.288000	0.76882	0.533000	0.62120	TTC		0.567	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		3	72	0	0	0	1	0	3	72				
ZNF503	84858	broad.mit.edu	37	10	77159228	77159228	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr10:77159228G>A	ENST00000372524.4	-	2	1706	c.1220C>T	c.(1219-1221)cCg>cTg	p.P407L	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000466942.2_RNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.P407L	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	407	Ala-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGAGCCGGCCGGCTTACTGCA	0.706																																						ENST00000372524.4																			0				lung(4)|ovary(1)|skin(1)	6						c.(1219-1221)cCg>cTg		zinc finger protein 503							4.0	5.0	5.0					10																	77159228		1826	3704	5530	SO:0001583	missense	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77159228G>A	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1220C>T	10.37:g.77159228G>A	ENSP00000361602:p.Pro407Leu					RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.P407L	p.P407L	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN			2	1706	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		407			Ala-rich.		Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	c.1220C>T	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221606	0.58560	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.49139	0.79;0.79	4.32	4.32	0.51571	.	0.094497	0.46442	D	0.000300	T	0.34395	0.0896	L	0.34521	1.04	0.58432	D	0.999999	P	0.47604	0.898	B	0.35727	0.209	T	0.20472	-1.0274	10	0.26408	T	0.33	-15.5407	17.3565	0.87337	0.0:0.0:1.0:0.0	.	407	Q96F45	ZN503_HUMAN	L	407;407;370	ENSP00000361602:P407L;ENSP00000438988:P407L	ENSP00000361594:P370L	P	-	2	0	ZNF503	76829234	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.617000	0.74210	2.394000	0.81467	0.549000	0.68633	CCG		0.706	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		5	4	0	0	0	1	0	5	4				
HDAC7	51564	broad.mit.edu	37	12	48188621	48188621	+	Silent	SNP	G	G	A	rs143888162	byFrequency	TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:48188621G>A	ENST00000427332.2	-	12	1419	c.1263C>T	c.(1261-1263)gaC>gaT	p.D421D	HDAC7_ENST00000552960.1_Silent_p.D443D|HDAC7_ENST00000380610.4_Silent_p.D477D|HDAC7_ENST00000080059.7_Silent_p.D460D|HDAC7_ENST00000354334.3_Silent_p.D423D|HDAC7_ENST00000488927.1_5'Flank			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	421	Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCAGGCCATCGTCCACCACCT	0.692													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		14802	0.0		0.0	False		,,,				2504	0.001					ENST00000080059.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1378-1380)gaC>gaT		histone deacetylase 7		G	,	5,4401	9.9+/-24.2	0,5,2198	47.0	54.0	52.0		1269,1380	-2.9	0.0	12	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	HDAC7	NM_001098416.2,NM_015401.3	,	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	,	423/955,460/992	48188621	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48188621G>A	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1263C>T	12.37:g.48188621G>A						HDAC7_ENST00000427332.2_Silent_p.D421D|HDAC7_ENST00000380610.4_Silent_p.D477D|HDAC7_ENST00000354334.3_Silent_p.D423D|HDAC7_ENST00000552960.1_Silent_p.D443D	p.D460D	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	12	1379	-			421			Transcription repression 2 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Silent	SNP	ENST00000427332.2	37	c.1380C>T																																																																																					0.692	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			5	86	0	0	0	1	0	5	86				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		4	38	1	0	0.00024832	1	0.000258887	4	38				
ATRX	546	broad.mit.edu	37	X	76890194	76890194	+	Splice_Site	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:76890194C>T	ENST00000373344.5	-	17	4914	c.4700G>A	c.(4699-4701)gGt>gAt	p.G1567D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G1529D	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1567					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						AAACTGAACACCTAAAAATAA	0.353			"""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.e17-1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						115.0	115.0	115.0					X																	76890194		2203	4296	6499	SO:0001630	splice_region_variant	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:76890194C>T	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.4700-1G>A	X.37:g.76890194C>T						ATRX_ENST00000395603.3_Splice_Site_p.G1529_splice|ATRX_ENST00000480283.1_5'UTR	p.G1567_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			17	4914	-			1567					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	c.4699_splice	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866043	0.71949	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94457	-3.43;-3.43	5.77	5.77	0.91146	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.85682	U	0.000000	D	0.98592	0.9529	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99694	1.1002	10	0.87932	D	0	.	18.913	0.92493	0.0:1.0:0.0:0.0	.	1529;1567	P46100-4;P46100	.;ATRX_HUMAN	D	1567;1529	ENSP00000362441:G1567D;ENSP00000378967:G1529D	ENSP00000362441:G1567D	G	-	2	0	ATRX	76776850	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.463000	0.80869	2.414000	0.81942	0.600000	0.82982	GGT		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Missense_Mutation	4	67	0	0	0	1	0	4	67				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			19	32	0	0	0	1	0	19	32				
BFSP2	8419	broad.mit.edu	37	3	133119064	133119064	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr3:133119064C>A	ENST00000302334.2	+	1	226	c.137C>A	c.(136-138)gCc>gAc	p.A46D		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	46	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGGACCAATGCCATGAGTGGC	0.677																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(136-138)gCc>gAc		beaded filament structural protein 2, phakinin							46.0	53.0	51.0					3																	133119064		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119064C>A	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.137C>A	3.37:g.133119064C>A	ENSP00000304987:p.Ala46Asp						p.A46D	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	226	+			46			Head.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.137C>A	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569645	0.28003	.	.	ENSG00000170819	ENST00000302334	D	0.83506	-1.73	5.63	0.525	0.17072	.	0.572434	0.16583	N	0.208085	T	0.72045	0.3412	L	0.51422	1.61	0.09310	N	1	B	0.28713	0.22	B	0.24006	0.05	T	0.58612	-0.7606	10	0.36615	T	0.2	-2.84	4.2363	0.10627	0.1614:0.3184:0.0:0.5202	.	46	Q13515	BFSP2_HUMAN	D	46	ENSP00000304987:A46D	ENSP00000304987:A46D	A	+	2	0	BFSP2	134601754	0.000000	0.05858	0.000000	0.03702	0.876000	0.50452	0.256000	0.18351	0.152000	0.19188	0.563000	0.77884	GCC		0.677	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			22	48	1	0	2.32416e-17	1	2.64846e-17	22	48				
C17orf70	80233	broad.mit.edu	37	17	79511038	79511038	+	Missense_Mutation	SNP	G	G	A	rs372340384		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr17:79511038G>A	ENST00000327787.8	-	7	2465	c.2419C>T	c.(2419-2421)Cgc>Tgc	p.R807C	C17orf70_ENST00000425898.2_Missense_Mutation_p.R456C|C17orf70_ENST00000537152.1_Missense_Mutation_p.R656C			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	807					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACCTGCATGCGCCCGACAACG	0.642																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1966-1968)Cgc>Tgc		chromosome 17 open reading frame 70		G	CYS/ARG	0,4398		0,0,2199	42.0	39.0	40.0		2419	4.8	0.1	17		40	1,8595	1.2+/-3.3	0,1,4297	no	missense	C17orf70	NM_025161.5	180	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	807/882	79511038	1,12993	2199	4298	6497	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79511038G>A	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2419C>T	17.37:g.79511038G>A	ENSP00000333283:p.Arg807Cys					C17orf70_ENST00000425898.2_Missense_Mutation_p.R456C|C17orf70_ENST00000327787.8_Missense_Mutation_p.R807C	p.R656C	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		7	2491	-	all_neural(118;0.0878)|Melanoma(429;0.242)		807					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.1966C>T	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591792	0.66219	0.0	1.16E-4	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.55413	0.52;0.52;0.52	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.71375	0.3332	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75637	-0.3249	10	0.87932	D	0	.	15.5494	0.76137	0.0:0.0:1.0:0.0	.	807;456	Q0VG06;E7EVV8	FP100_HUMAN;.	C	807;456;180;656	ENSP00000333283:R807C;ENSP00000399674:R456C;ENSP00000440151:R656C	ENSP00000333283:R807C	R	-	1	0	C17orf70	77121491	1.000000	0.71417	0.149000	0.22428	0.343000	0.28985	7.588000	0.82629	2.203000	0.70933	0.462000	0.41574	CGC		0.642	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		10	33	0	0	0	1	0	10	33				
SLCO1C1	53919	broad.mit.edu	37	12	20870144	20870144	+	Missense_Mutation	SNP	A	A	G	rs112098263		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:20870144A>G	ENST00000266509.2	+	7	1123	c.755A>G	c.(754-756)gAc>gGc	p.D252G	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D252G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D134G|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.D252G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D203G	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	252					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CTATATGTTGACATTGGCTTT	0.348																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(754-756)gAc>gGc		solute carrier organic anion transporter family, member 1C1							186.0	167.0	174.0					12																	20870144		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20870144A>G	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.755A>G	12.37:g.20870144A>G	ENSP00000266509:p.Asp252Gly					SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D203G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D134G|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D252G|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.D252G	p.D252G			Q9NYB5	SO1C1_HUMAN			7	1123	+	Esophageal squamous(101;0.149)		252					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.755A>G	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.664113	0.88251	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	H	0.95950	3.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.86089	0.1549	10	0.87932	D	0	.	16.0645	0.80861	1.0:0.0:0.0:0.0	.	134;203;252;252	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	G	252;203;252;252;134	ENSP00000444149:D252G;ENSP00000438665:D203G;ENSP00000266509:D252G;ENSP00000370964:D252G;ENSP00000444527:D134G	ENSP00000266509:D252G	D	+	2	0	SLCO1C1	20761411	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.896000	0.92521	2.200000	0.70718	0.482000	0.46254	GAC		0.348	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		7	58	0	0	0	1	0	7	58				
SNHG14	104472715	broad.mit.edu	37	15	25440073	25440073	+	RNA	SNP	G	G	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:25440073G>T	ENST00000424208.1	+	0	1460				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000414175.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GGGTTGGGTCGATGATGAGAA	0.527																																						ENST00000424208.1																			0																				292.0	299.0	297.0					15																	25440073		876	1991	2867			0							g.chr15:25440073G>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.25440073G>T						SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000456576.1_RNA		NR_003305.1						0	1460	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.527	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			30	203	1	0	1.06801e-11	1	1.16295e-11	30	203				
SPAST	6683	broad.mit.edu	37	2	32366971	32366971	+	Splice_Site	SNP	A	A	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:32366971A>T	ENST00000315285.3	+	13	1618		c.e13-1		SPAST_ENST00000345662.1_Splice_Site	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTTTTTTTTTAGGCGTTTCAT	0.303																																						ENST00000315285.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	GRCh37	CD023280|CS011849	SPAST	D|S		c.e13-1		spastin							111.0	104.0	106.0					2																	32366971		2203	4299	6502	SO:0001630	splice_region_variant	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32366971A>T	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.1494-1A>T	2.37:g.32366971A>T						SPAST_ENST00000345662.1_Splice_Site		NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN			13	1618	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)								Splice_Site	SNP	ENST00000315285.3	37		CCDS1778.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119328	0.77323	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.331	0.66556	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPAST	32220475	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	7.284000	0.78650	1.857000	0.53885	0.482000	0.46254	.		0.303	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436	Intron	3	27	0	0	0	1	0	3	27				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	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	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	3	0	0	0	1	0	20	3				
TMPO	7112	broad.mit.edu	37	12	98927443	98927443	+	Intron	SNP	A	A	G			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:98927443A>G	ENST00000556029.1	+	3	921				TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.T470A	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						TCATTCACTCACTACCTTAGG	0.393																																						ENST00000266732.4																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1408-1410)Act>Gct		thymopoietin							149.0	126.0	134.0					12																	98927443		2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98927443A>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+1827A>G	12.37:g.98927443A>G						TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron	p.T470A	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN			4	1646	+			0					A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.1408A>G	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	A	9.629	1.135938	0.21123	.	.	ENSG00000120802	ENST00000266732	T	0.59906	0.23	5.65	-1.4	0.08968	.	0.657806	0.15019	N	0.285090	T	0.32285	0.0824	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.11665	-1.0578	10	0.48119	T	0.1	-1.5274	1.0759	0.01632	0.432:0.151:0.2715:0.1456	.	470	P42166	LAP2A_HUMAN	A	470	ENSP00000266732:T470A	ENSP00000266732:T470A	T	+	1	0	TMPO	97451574	0.050000	0.20438	0.003000	0.11579	0.820000	0.46376	0.187000	0.16998	-0.386000	0.07821	0.528000	0.53228	ACT		0.393	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		4	67	0	0	0	1	0	4	67				
DNAH10	196385	broad.mit.edu	37	12	124267721	124267721	+	Silent	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:124267721G>A	ENST00000409039.3	+	7	751	c.726G>A	c.(724-726)ccG>ccA	p.P242P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	242	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGCTGACCCGGAAACCGTTG	0.478																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(724-726)ccG>ccA		dynein, axonemal, heavy chain 10							111.0	105.0	107.0					12																	124267721		2203	4300	6503	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124267721G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.726G>A	12.37:g.124267721G>A							p.P242P	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	7	751	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		242			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.726G>A	CCDS9255.2																																																																																				0.478	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			4	48	0	0	0	1	0	4	48				
SPG11	80208	broad.mit.edu	37	15	44951348	44951348	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:44951348G>C	ENST00000261866.7	-	3	612	c.596C>G	c.(595-597)gCa>gGa	p.A199G	SPG11_ENST00000558319.1_Missense_Mutation_p.A199G|SPG11_ENST00000559193.1_Missense_Mutation_p.A199G|SPG11_ENST00000535302.2_Missense_Mutation_p.A199G|SPG11_ENST00000427534.2_Missense_Mutation_p.A199G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	199					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CATGTCCACTGCCTGTGCAGG	0.408																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(595-597)gCa>gGa		spastic paraplegia 11 (autosomal recessive)							134.0	134.0	134.0					15																	44951348		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44951348G>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.596C>G	15.37:g.44951348G>C	ENSP00000261866:p.Ala199Gly					SPG11_ENST00000535302.2_Missense_Mutation_p.A199G|SPG11_ENST00000559193.1_Missense_Mutation_p.A199G|SPG11_ENST00000558319.1_Missense_Mutation_p.A199G|SPG11_ENST00000427534.2_Missense_Mutation_p.A199G	p.A199G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	3	612	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	199					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.596C>G	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026173	0.35701	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.31247	1.5;1.5;1.5	5.87	4.96	0.65561	.	0.739179	0.13277	N	0.400078	T	0.31979	0.0814	L	0.59436	1.845	0.09310	N	0.999999	B;B;P;B	0.42296	0.006;0.052;0.775;0.013	B;B;B;B	0.39660	0.004;0.027;0.306;0.007	T	0.19418	-1.0306	10	0.51188	T	0.08	.	10.4253	0.44373	0.1538:0.0:0.8462:0.0	.	199;199;199;199	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	G	199	ENSP00000261866:A199G;ENSP00000445278:A199G;ENSP00000396110:A199G	ENSP00000261866:A199G	A	-	2	0	SPG11	42738640	0.230000	0.23740	0.979000	0.43373	0.586000	0.36452	1.705000	0.37867	1.493000	0.48517	0.650000	0.86243	GCA		0.408	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			47	51	0	0	0	1	0	47	51				
TTN	7273	broad.mit.edu	37	2	179631139	179631139	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:179631139C>A	ENST00000591111.1	-	41	9896	c.9672G>T	c.(9670-9672)agG>agT	p.R3224S	TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R3178S|TTN_ENST00000359218.5_Missense_Mutation_p.R3178S|TTN_ENST00000460472.2_Missense_Mutation_p.R3178S|TTN_ENST00000589042.1_Missense_Mutation_p.R3224S|TTN_ENST00000360870.5_Missense_Mutation_p.R3224S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3224S			Q8WZ42	TITIN_HUMAN	titin	13554					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCCTGTTCCTTCCTGCCA	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(9670-9672)agG>agT		titin							131.0	127.0	129.0					2																	179631139		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179631139C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9672G>T	2.37:g.179631139C>A	ENSP00000465570:p.Arg3224Ser					TTN_ENST00000591111.1_Missense_Mutation_p.R3224S|TTN_ENST00000342992.6_Missense_Mutation_p.R3224S|TTN_ENST00000342175.6_Missense_Mutation_p.R3178S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R3178S|TTN_ENST00000360870.5_Missense_Mutation_p.R3224S|TTN_ENST00000359218.5_Missense_Mutation_p.R3178S	p.R3224S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		41	9896	-			2957					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.9672G>T		.	.	.	.	.	.	.	.	.	.	C	12.15	1.850820	0.32699	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.04275	3.66;3.66;3.66;3.66;3.66	5.62	1.66	0.24008	Immunoglobulin subtype (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03783	0.0107	N	0.25094	0.71	0.23050	N	0.998376	B;B;B;B;P	0.42692	0.379;0.379;0.379;0.379;0.787	B;B;B;B;B	0.36666	0.185;0.185;0.185;0.185;0.23	T	0.40590	-0.9555	9	0.87932	D	0	.	9.7439	0.40435	0.0:0.4283:0.0:0.5717	.	3178;3178;3178;3224;3224	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	3224;3178;3178;3178;3178;3224	ENSP00000343764:R3224S;ENSP00000434586:R3178S;ENSP00000340554:R3178S;ENSP00000352154:R3178S;ENSP00000354117:R3224S	ENSP00000340554:R3178S	R	-	3	2	TTN	179339384	0.989000	0.36119	1.000000	0.80357	0.916000	0.54674	0.285000	0.18883	0.119000	0.18210	-0.216000	0.12614	AGG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	81	1	0	3.27435e-08	1	3.4879e-08	14	81				
HS6ST2	90161	broad.mit.edu	37	X	131762930	131762930	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:131762930T>C	ENST00000370836.2	-	4	1554	c.1139A>G	c.(1138-1140)gAc>gGc	p.D380G	HS6ST2_ENST00000521489.1_Missense_Mutation_p.D420G|HS6ST2_ENST00000370833.2_Missense_Mutation_p.D274G|HS6ST2_ENST00000406696.3_Missense_Mutation_p.D106G	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	380					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GTAGGGACAGTCCATAAACTC	0.567																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(1138-1140)gAc>gGc		heparan sulfate 6-O-sulfotransferase 2							65.0	62.0	63.0					X																	131762930		2082	4205	6287	SO:0001583	missense	90161					integral to membrane	sulfotransferase activity	g.chrX:131762930T>C	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1139A>G	X.37:g.131762930T>C	ENSP00000359873:p.Asp380Gly					HS6ST2_ENST00000406696.3_Missense_Mutation_p.D106G|HS6ST2_ENST00000521489.1_Missense_Mutation_p.D420G|HS6ST2_ENST00000370833.2_Missense_Mutation_p.D274G|HS6ST2_ENST00000370837.1_Missense_Mutation_p.D234G	p.D380G	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN			4	1554	-	Acute lymphoblastic leukemia(192;0.000127)		380					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	ENST00000370836.2	37	c.1139A>G	CCDS48169.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.821514	0.50633	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833;ENST00000319809	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	6.02	6.02	0.97574	.	0.046652	0.85682	D	0.000000	T	0.76990	0.4065	L	0.27053	0.805	0.53005	D	0.999968	D;B;D	0.71674	0.998;0.17;0.996	D;B;D	0.67725	0.912;0.194;0.953	T	0.75453	-0.3312	10	0.29301	T	0.29	-2.4991	14.5446	0.68020	0.0:0.0:0.0:1.0	.	380;420;106	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	G	234;380;420;106;274;261	ENSP00000359874:D234G;ENSP00000359873:D380G;ENSP00000429473:D420G;ENSP00000384013:D106G;ENSP00000359870:D274G	ENSP00000324617:D261G	D	-	2	0	HS6ST2	131590611	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.061000	0.64319	2.034000	0.60081	0.486000	0.48141	GAC		0.567	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		8	18	0	0	0	1	0	8	18				
LILRB3	11025	broad.mit.edu	37	19	54726381	54726381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr19:54726381C>T	ENST00000391750.1	-	4	260	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.G42R|LILRB3_ENST00000245620.9_Missense_Mutation_p.G42R|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000346401.6_Missense_Mutation_p.G42R|LILRB3_ENST00000469273.1_5'Flank|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Intron|CTB-83J4.1_ENST00000601161.1_lincRNA			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	42	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCTCCCCCAGCTGATC	0.602																																						ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(124-126)Ggg>Agg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3							8.0	10.0	10.0					19																	54726381		1601	3572	5173	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54726381C>T	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.124G>A	19.37:g.54726381C>T	ENSP00000375630:p.Gly42Arg					LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000346401.6_Missense_Mutation_p.G42R|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.G42R|LILRB3_ENST00000245620.9_Missense_Mutation_p.G42R	p.G42R			O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	260	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		42			Ig-like C2-type 1.		C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	c.124G>A	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	C	8.837	0.941378	0.18281	.	.	ENSG00000204577	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000445347	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	2.9	-0.631	0.11526	Immunoglobulin-like fold (1);	0.410312	0.21351	N	0.075976	T	0.42720	0.1215	M	0.89968	3.075	0.09310	N	1	D;D	0.69078	0.997;0.975	P;D	0.63957	0.525;0.92	T	0.22034	-1.0228	10	0.87932	D	0	.	5.6577	0.17652	0.0:0.6076:0.0:0.3924	.	42;42	O75022;O75022-3	LIRB3_HUMAN;.	R	42	ENSP00000375630:G42R;ENSP00000412771:G42R;ENSP00000345184:G42R;ENSP00000245620:G42R;ENSP00000388199:G42R	ENSP00000245620:G42R	G	-	1	0	LILRB3	59418193	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.204000	0.17335	-0.007000	0.14345	-0.964000	0.02622	GGG		0.602	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		9	69	0	0	0	1	0	9	69				
ZFP64	55734	broad.mit.edu	37	20	50701439	50701439	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr20:50701439G>A	ENST00000361387.2	-	9	1655	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	ZFP64_ENST00000371523.4_Missense_Mutation_p.T313M|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	380					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(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGGCCGCTTCGTGTCGAAGCT	0.647																																						ENST00000361387.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1594-1596)aCg>aTg		ZFP64 zinc finger protein							55.0	51.0	52.0					20																	50701439		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50701439G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1595C>T	20.37:g.50701439G>A	ENSP00000355179:p.Thr532Met					ZFP64_ENST00000371523.4_Missense_Mutation_p.T313M|ZFP64_ENST00000371518.2_Intron	p.T532M	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN			9	1655	-			380					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000361387.2	37	c.1595C>T	CCDS13439.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134079	0.77662	.	.	ENSG00000020256	ENST00000371523;ENST00000361387	T;T	0.19532	2.14;2.14	4.4	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40247	0.1109	L	0.42529	1.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.982	T	0.31916	-0.9926	9	0.87932	D	0	.	17.5484	0.87869	0.0:0.0:1.0:0.0	.	532;313	Q9NTW7;Q9NTW7-2	ZF64B_HUMAN;.	M	313;532	ENSP00000360578:T313M;ENSP00000355179:T532M	ENSP00000355179:T532M	T	-	2	0	ZFP64	50134846	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	6.084000	0.71335	2.440000	0.82611	0.655000	0.94253	ACG		0.647	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		14	35	0	0	0	1	0	14	35				
GCK	2645	broad.mit.edu	37	7	44192978	44192978	+	Missense_Mutation	SNP	C	C	T	rs267601516		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr7:44192978C>T	ENST00000403799.3	-	2	599	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	GCK_ENST00000345378.2_Missense_Mutation_p.G45S|GCK_ENST00000395796.3_Missense_Mutation_p.G43S|GCK_ENST00000476008.1_5'Flank|GCK_ENST00000437084.1_Missense_Mutation_p.G44S	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	44	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						AGCCTCAGGCCGCGGTCCATC	0.612																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37	GRCh37	CM013265	GCK	M		c.(130-132)Ggc>Agc		glucokinase (hexokinase 4)							237.0	204.0	215.0					7																	44192978		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44192978C>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.130G>A	7.37:g.44192978C>T	ENSP00000384247:p.Gly44Ser					GCK_ENST00000345378.2_Missense_Mutation_p.G45S|GCK_ENST00000395796.3_Missense_Mutation_p.G43S|GCK_ENST00000437084.1_Missense_Mutation_p.G44S	p.G44S	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			2	599	-			44					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.130G>A	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603880	0.96626	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5	5.08	5.08	0.68730	Hexokinase, N-terminal (1);	0.049213	0.85682	D	0.000000	D	0.99366	0.9777	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99010	1.0814	10	0.87932	D	0	-46.5098	18.4495	0.90697	0.0:1.0:0.0:0.0	.	44;45;43	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	S	44;43;45;44	ENSP00000384247:G44S;ENSP00000379142:G43S;ENSP00000223366:G45S;ENSP00000402840:G44S	ENSP00000223366:G45S	G	-	1	0	GCK	44159503	1.000000	0.71417	0.953000	0.39169	0.863000	0.49368	7.750000	0.85110	2.517000	0.84864	0.655000	0.94253	GGC		0.612	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			4	208	0	0	0	1	0	4	208				
TMEM150A	129303	broad.mit.edu	37	2	85826350	85826350	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:85826350T>C	ENST00000409668.1	-	7	1132	c.665A>G	c.(664-666)tAt>tGt	p.Y222C	TMEM150A_ENST00000306353.3_Missense_Mutation_p.Y169C|TMEM150A_ENST00000334462.5_Missense_Mutation_p.Y222C			Q86TG1	T150A_HUMAN	transmembrane protein 150A	222					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						GAAGGTGCCATAGAAAATGAG	0.567																																						ENST00000409668.1																			0				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						c.(664-666)tAt>tGt		transmembrane protein 150A							90.0	69.0	76.0					2																	85826350		2203	4300	6503	SO:0001583	missense	129303					integral to membrane|plasma membrane		g.chr2:85826350T>C	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"""transmembrane protein 150"""	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.665A>G	2.37:g.85826350T>C	ENSP00000387292:p.Tyr222Cys					TMEM150A_ENST00000306353.3_Missense_Mutation_p.Y169C|TMEM150A_ENST00000334462.5_Missense_Mutation_p.Y222C	p.Y222C			Q86TG1	T150A_HUMAN			7	1132	-			222					A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	ENST00000409668.1	37	c.665A>G	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393934	0.62066	.	.	ENSG00000168890	ENST00000306353;ENST00000334462;ENST00000409668	T;T;T	0.47177	0.85;0.85;0.85	5.51	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.976;1.0	T	0.72093	-0.4394	10	0.87932	D	0	0.119	10.0353	0.42125	0.1512:0.0:0.0:0.8488	.	169;222	Q86TG1-2;Q86TG1	.;T150A_HUMAN	C	169;222;222	ENSP00000302715:Y169C;ENSP00000334708:Y222C;ENSP00000387292:Y222C	ENSP00000302715:Y169C	Y	-	2	0	TMEM150A	85679861	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	4.806000	0.62569	0.895000	0.36342	0.533000	0.62120	TAT		0.567	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342		17	40	0	0	0	1	0	17	40				
AFF3	3899	broad.mit.edu	37	2	100623319	100623319	+	Silent	SNP	A	A	G			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:100623319A>G	ENST00000409236.2	-	5	760	c.648T>C	c.(646-648)ttT>ttC	p.F216F	AFF3_ENST00000409579.1_Silent_p.F241F|AFF3_ENST00000356421.2_Silent_p.F241F|AFF3_ENST00000317233.4_Silent_p.F216F			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	216					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGGATGGAGGAAAGTTCTGAA	0.582																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(646-648)ttT>ttC		AF4/FMR2 family, member 3							104.0	101.0	102.0					2																	100623319		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623319A>G	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.648T>C	2.37:g.100623319A>G						AFF3_ENST00000409579.1_Silent_p.F241F|AFF3_ENST00000409236.1_Silent_p.F216F|AFF3_ENST00000356421.2_Silent_p.F241F	p.F216F	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			6	883	-			216					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.648T>C	CCDS42723.1																																																																																				0.582	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		32	52	0	0	0	1	0	32	52				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	29	0	0	0	1	0	3	29				
TRIM11	81559	broad.mit.edu	37	1	228588830	228588830	+	Silent	SNP	T	T	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr1:228588830T>A	ENST00000284551.6	-	3	848	c.570A>T	c.(568-570)gcA>gcT	p.A190A	TRIM11_ENST00000366699.3_Silent_p.A190A|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000493030.2_Silent_p.A65A	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	190					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCTCCTCCTCTGCCAGCAAAC	0.677																																						ENST00000493030.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18						c.(193-195)gcA>gcT		tripartite motif containing 11							29.0	31.0	30.0					1																	228588830		2203	4299	6502	SO:0001819	synonymous_variant	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228588830T>A	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.570A>T	1.37:g.228588830T>A						TRIM11_ENST00000366699.3_Silent_p.A190A|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Silent_p.A190A	p.A65A			Q96F44	TRI11_HUMAN			2	3904	-		Prostate(94;0.0724)	190					A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Silent	SNP	ENST00000284551.6	37	c.195A>T	CCDS31048.1																																																																																				0.677	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		8	34	0	0	0	1	0	8	34				
RRM2	6241	broad.mit.edu	37	2	10263519	10263519	+	Silent	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:10263519T>C	ENST00000304567.5	+	3	249	c.180T>C	c.(178-180)acT>acC	p.T60T	RRM2_ENST00000360566.2_Silent_p.T120T|RP11-254F7.4_ENST00000607140.1_lincRNA	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	60					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	AACAGAAAACTAAAGCAGCTG	0.493																																						ENST00000360566.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19						c.(358-360)acT>acC		ribonucleotide reductase M2							29.0	36.0	33.0					2																	10263519		2198	4296	6494	SO:0001819	synonymous_variant	6241				deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr2:10263519T>C		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.180T>C	2.37:g.10263519T>C						RRM2_ENST00000304567.5_Silent_p.T60T	p.T120T	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	3	651	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		60					B2R9B5|J3KP43|Q5WRU7	Silent	SNP	ENST00000304567.5	37	c.360T>C	CCDS1669.1																																																																																				0.493	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			4	61	0	0	0	1	0	4	61				
ARFIP2	23647	broad.mit.edu	37	11	6499304	6499304	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr11:6499304G>A	ENST00000254584.2	-	6	745	c.662C>T	c.(661-663)aCg>aTg	p.T221M	ARFIP2_ENST00000423813.2_Missense_Mutation_p.T183M|ARFIP2_ENST00000445086.2_Missense_Mutation_p.T136M|ARFIP2_ENST00000396777.3_Missense_Mutation_p.T221M	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	221	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTCATGAGCGTGTCTTCCAT	0.507																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(661-663)aCg>aTg		ADP-ribosylation factor interacting protein 2							154.0	133.0	140.0					11																	6499304		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6499304G>A	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.662C>T	11.37:g.6499304G>A	ENSP00000254584:p.Thr221Met					ARFIP2_ENST00000423813.2_Missense_Mutation_p.T183M|ARFIP2_ENST00000396777.3_Missense_Mutation_p.T221M|ARFIP2_ENST00000445086.2_Missense_Mutation_p.T136M	p.T221M	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	745	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	221			AH.		B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.662C>T	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641713	0.67244	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.4	5.4	0.78164	Arfaptin-like (3);	0.044588	0.85682	D	0.000000	D	0.93562	0.7945	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.994	D	0.94226	0.7472	10	0.87932	D	0	.	14.7754	0.69729	0.0:0.0:0.855:0.1449	.	254;136;221	B4DUZ3;B4E306;P53365	.;.;ARFP2_HUMAN	M	221;221;136;183	ENSP00000254584:T221M;ENSP00000379998:T221M;ENSP00000391427:T136M;ENSP00000398375:T183M	ENSP00000254584:T221M	T	-	2	0	ARFIP2	6455880	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.531000	0.85337	0.655000	0.94253	ACG		0.507	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		30	38	0	0	0	1	0	30	38				
TMEM198	130612	broad.mit.edu	37	2	220412401	220412401	+	Missense_Mutation	SNP	C	C	T	rs149628397		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:220412401C>T	ENST00000344458.2	+	4	925	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.R114C|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	114	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CATGCTAGTGCGCAGCGTGGG	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		13617	0.001		0.0	False		,,,				2504	0.0					ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(340-342)Cgc>Tgc		transmembrane protein 198		C	CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	59.0	59.0	59.0		340	4.1	1.0	2	dbSNP_134	59	0,8596		0,0,4298	no	missense	TMEM198	NM_001005209.1	180	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	114/361	220412401	1,12999	2202	4298	6500	SO:0001583	missense	130612					integral to membrane		g.chr2:220412401C>T	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.340C>T	2.37:g.220412401C>T	ENSP00000343507:p.Arg114Cys					TMEM198_ENST00000373883.3_Missense_Mutation_p.R114C	p.R114C			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	925	+		Renal(207;0.0376)	114			Leu-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.340C>T	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229142	0.79688	2.27E-4	0.0	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	.	0.103817	0.64402	D	0.000002	T	0.77143	0.4087	M	0.73962	2.25	0.52501	D	0.999958	D	0.89917	1.0	D	0.68353	0.957	T	0.78201	-0.2296	9	0.40728	T	0.16	-21.3324	16.3706	0.83357	0.0:1.0:0.0:0.0	.	114	Q66K66	TM198_HUMAN	C	114	.	ENSP00000343507:R114C	R	+	1	0	TMEM198	220120645	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.660000	0.68018	2.253000	0.74438	0.591000	0.81541	CGC		0.697	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		19	70	0	0	0	1	0	19	70				
ARHGEF5	7984	broad.mit.edu	37	7	144060004	144060004	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr7:144060004delA	ENST00000056217.5	+	2	416	c.242delA	c.(241-243)gaafs	p.E81fs		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	81					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTTCCCAAGGAAGGTTCTGCA	0.537																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(241-243)gafs		Rho guanine nucleotide exchange factor (GEF) 5							1.0	1.0	1.0					7																	144060004		308	769	1077	SO:0001589	frameshift_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060004delA	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.242delA	7.37:g.144060004delA	ENSP00000056217:p.Glu81fs						p.E81fs	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	416	+	Melanoma(164;0.14)		81					A6NNJ2|Q6ZML7	Frame_Shift_Del	DEL	ENST00000056217.5	37	c.242delA	CCDS34771.1																																																																																				0.537	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		3	5						3	5	---	---	---	---
ACRBP	84519	broad.mit.edu	37	12	6756525	6756525	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:6756525delT	ENST00000229243.2	-	1	101	c.8delA	c.(7-9)aagfs	p.K3fs	ACRBP_ENST00000414226.2_Frame_Shift_Del_p.K3fs|ACRBP_ENST00000536350.1_Frame_Shift_Del_p.K3fs	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGCGGCTGGCTTCCTCATGGC	0.672																																						ENST00000229243.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						c.(7-9)agfs		acrosin binding protein							26.0	26.0	26.0					12																	6756525		2143	4201	6344	SO:0001589	frameshift_variant	84519					acrosomal vesicle|extracellular region		g.chr12:6756525delT	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.8delA	12.37:g.6756525delT	ENSP00000229243:p.Lys3fs					ACRBP_ENST00000536350.1_Frame_Shift_Del_p.K3fs|ACRBP_ENST00000414226.2_Frame_Shift_Del_p.K3fs	p.K3fs	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN			1	101	-			3						Frame_Shift_Del	DEL	ENST00000229243.2	37	c.8delA	CCDS8554.1																																																																																				0.672	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		2	4						2	4	---	---	---	---
SNRPD2	6633	broad.mit.edu	37	19	46191718	46191721	+	Frame_Shift_Del	DEL	TGAC	TGAC	-			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr19:46191718_46191721delTGAC	ENST00000342669.3	-	2	550_553	c.106_109delGTCA	c.(106-111)gtcaagfs	p.VK36fs	SNRPD2_ENST00000587367.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000590212.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000585392.1_5'UTR|SNRPD2_ENST00000391932.3_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000588599.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000588301.1_Frame_Shift_Del_p.VK36fs	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	36					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		GTATTGTTCTTGACTGACTGTGTG	0.544																																						ENST00000342669.3																			0				breast(1)|large_intestine(1)|lung(2)	4						c.(106-111)agfs		small nuclear ribonucleoprotein D2 polypeptide 16.5kDa																																				SO:0001589	frameshift_variant	6633				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding	g.chr19:46191718_46191721delTGAC		CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"""snRNP core protein D2"""	601061	"""small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"""	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.106_109delGTCA	19.37:g.46191722_46191725delTGAC	ENSP00000342374:p.Val36fs					SNRPD2_ENST00000590212.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000588599.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000587367.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000391932.3_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000588301.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000585392.1_5'UTR	p.VK36fs	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)	2	550_553	-		Ovarian(192;0.051)|all_neural(266;0.112)	36					A8K797|J3KPM5|P43330	Frame_Shift_Del	DEL	ENST00000342669.3	37	c.106_109delGTCA	CCDS33053.1																																																																																				0.544	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459648.1	NM_004597		11	126						11	126	---	---	---	---
FMR1	2332	broad.mit.edu	37	X	147026489	147026489	+	Frame_Shift_Del	DEL	C	C	-	rs143889976	byFrequency	TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:147026489delC	ENST00000370475.4	+	15	1700	c.1572delC	c.(1570-1572)agcfs	p.S524fs	FMR1_ENST00000440235.2_Frame_Shift_Del_p.S171fs|FMR1_ENST00000439526.2_Frame_Shift_Del_p.S501fs|FMR1_ENST00000218200.8_Frame_Shift_Del_p.S503fs|FMR1_ENST00000370471.3_Frame_Shift_Del_p.A434fs|FMR1_ENST00000370477.1_Frame_Shift_Del_p.S491fs|FMR1_ENST00000370470.1_Frame_Shift_Del_p.S499fs|FMR1-IT1_ENST00000441414.1_RNA	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	524	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGGAGAGCTTCCTGCGCA	0.512									Fragile X syndrome																													ENST00000218200.8																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1507-1509)agfs		fragile X mental retardation 1							67.0	63.0	65.0					X																	147026489		2203	4300	6503	SO:0001589	frameshift_variant	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147026489delC	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1572delC	X.37:g.147026489delC	ENSP00000359506:p.Ser524fs					FMR1_ENST00000370477.1_Frame_Shift_Del_p.S491fs|FMR1_ENST00000370475.4_Frame_Shift_Del_p.S524fs|FMR1_ENST00000440235.2_Frame_Shift_Del_p.S171fs|FMR1_ENST00000370471.3_Frame_Shift_Del_p.A434fs|FMR1_ENST00000370470.1_Frame_Shift_Del_p.S499fs|FMR1_ENST00000439526.2_Frame_Shift_Del_p.S501fs	p.S503fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			14	1738	+	Acute lymphoblastic leukemia(192;6.56e-05)		524			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Frame_Shift_Del	DEL	ENST00000370475.4	37	c.1509delC	CCDS14682.1																																																																																				0.512	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		2	4						2	4	---	---	---	---
