#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
SLC6A4	6532	broad.mit.edu	37	17	28534827	28534827	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:28534827C>T	ENST00000401766.2	-	12	2085	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	SLC6A4_ENST00000261707.3_Missense_Mutation_p.V525M|RP11-354P11.4_ENST00000581633.1_RNA			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	525					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	ATTTCCTTCACGTCCCTGCAG	0.582																																						ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(1573-1575)Gtg>Atg		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						79.0	63.0	69.0					17																	28534827		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28534827C>T	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1573G>A	17.37:g.28534827C>T	ENSP00000385822:p.Val525Met					SLC6A4_ENST00000261707.3_Missense_Mutation_p.V525M	p.V525M			P31645	SC6A4_HUMAN			12	2085	-			525					Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.1573G>A	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073615	0.76415	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.76968	-1.06;-1.06	5.64	5.64	0.86602	.	0.123597	0.56097	D	0.000034	D	0.82870	0.5131	L	0.56199	1.76	0.52501	D	0.999952	D	0.56035	0.974	P	0.54026	0.74	D	0.84408	0.0564	10	0.87932	D	0	.	18.6792	0.91540	0.0:1.0:0.0:0.0	.	525	P31645	SC6A4_HUMAN	M	567;525;525	ENSP00000385822:V525M;ENSP00000261707:V525M	ENSP00000261707:V525M	V	-	1	0	SLC6A4	25558953	0.960000	0.32886	0.993000	0.49108	0.985000	0.73830	1.856000	0.39389	2.665000	0.90641	0.591000	0.81541	GTG		0.582	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		3	16	0	0	0	0.115264	0	3	16				
RPRD1B	58490	broad.mit.edu	37	20	36694642	36694642	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:36694642A>C	ENST00000373433.4	+	6	1217	c.815A>C	c.(814-816)aAg>aCg	p.K272T		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	272					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TTGTCGGAGAAGGAGAAAAAA	0.488																																						ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(814-816)aAg>aCg		regulation of nuclear pre-mRNA domain containing 1B							73.0	83.0	80.0					20																	36694642		2203	4300	6503	SO:0001583	missense	58490							g.chr20:36694642A>C	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.815A>C	20.37:g.36694642A>C	ENSP00000362532:p.Lys272Thr						p.K272T	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			6	1217	+			272					Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	c.815A>C	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.086608	0.36855	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.35	5.35	0.76521	.	0.040065	0.85682	D	0.000000	T	0.47192	0.1432	L	0.31926	0.97	0.51482	D	0.999926	B	0.25441	0.126	B	0.24701	0.055	T	0.37957	-0.9683	9	0.26408	T	0.33	-16.2457	14.958	0.71131	1.0:0.0:0.0:0.0	.	272	Q9NQG5	RPR1B_HUMAN	T	272;154	.	ENSP00000362532:K272T	K	+	2	0	RPRD1B	36128056	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.814000	0.75236	2.371000	0.80710	0.533000	0.62120	AAG		0.488	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		12	116	0	0	0	0.146539	0	12	116				
RHOBTB1	9886	broad.mit.edu	37	10	62648196	62648196	+	Silent	SNP	A	A	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr10:62648196A>G	ENST00000337910.5	-	6	1567	c.1230T>C	c.(1228-1230)ccT>ccC	p.P410P	RHOBTB1_ENST00000357917.4_Silent_p.P410P	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	410	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GGGTCCGAAAAGGGCCTGGCT	0.537																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1228-1230)ccT>ccC		Rho-related BTB domain containing 1							62.0	60.0	61.0					10																	62648196		2203	4300	6503	SO:0001819	synonymous_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648196A>G	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1230T>C	10.37:g.62648196A>G						RHOBTB1_ENST00000357917.4_Silent_p.P410P	p.P410P	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			6	1567	-	Prostate(12;0.0112)		410			BTB 1.			Silent	SNP	ENST00000337910.5	37	c.1230T>C	CCDS7261.1																																																																																				0.537	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			3	62	0	0	0	0.115264	0	3	62				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			3	125	0	0	0	0.115264	0	3	125				
ITGA6	3655	broad.mit.edu	37	2	173366539	173366539	+	Intron	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:173366539G>A	ENST00000264106.6	+	26	3434				ITGA6_ENST00000264107.7_Missense_Mutation_p.A1052T|ITGA6_ENST00000375221.2_Missense_Mutation_p.A1091T|AC093818.1_ENST00000450443.1_RNA|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_Missense_Mutation_p.A1047T|ITGA6_ENST00000409532.1_Missense_Mutation_p.A933T|ITGA6_ENST00000409080.1_Intron			P23229	ITA6_HUMAN	integrin, alpha 6						amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCATTATGATGCCACATATCA	0.363																																						ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(3271-3273)Gcc>Acc		integrin, alpha 6							137.0	133.0	135.0					2																	173366539		2203	4300	6503	SO:0001627	intron_variant	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173366539G>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.3232-2280G>A	2.37:g.173366539G>A						ITGA6_ENST00000264107.7_Missense_Mutation_p.A1052T|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.A933T|ITGA6_ENST00000343713.4_Missense_Mutation_p.A1047T|ITGA6_ENST00000264106.6_Intron|ITGA6_ENST00000409080.1_Intron	p.A1091T			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		26	3474	+			1091					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.3271G>A		.	.	.	.	.	.	.	.	.	.	G	15.64	2.892269	0.52014	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000375221;ENST00000343713	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	6.17	4.38	0.52667	.	.	.	.	.	T	0.17152	0.0412	.	.	.	0.27928	N	0.937982	B;B;B	0.13594	0.002;0.001;0.008	B;B;B	0.15870	0.008;0.008;0.014	T	0.09862	-1.0655	8	0.39692	T	0.17	.	12.3259	0.55011	0.1342:0.0:0.8658:0.0	.	1047;1076;1052	P23229-4;P23229-9;P23229-2	.;.;.	T	933;1052;1091;1047	ENSP00000386614:A933T;ENSP00000264107:A1052T;ENSP00000364369:A1091T;ENSP00000341078:A1047T	ENSP00000264107:A1052T	A	+	1	0	ITGA6	173074785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.552000	0.60747	1.630000	0.50440	0.655000	0.94253	GCC		0.363	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				28	59	0	0	0	0.163468	0	28	59				
IFNB1	3456	broad.mit.edu	37	9	21077516	21077516	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr9:21077516T>C	ENST00000380232.2	-	1	427	c.353A>G	c.(352-354)cAt>cGt	p.H118R		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	118					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		TGTCTTCAGATGGTTTATCTG	0.413																																						ENST00000380232.2																			0				breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12						c.(352-354)cAt>cGt		interferon, beta 1, fibroblast	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						180.0	182.0	181.0					9																	21077516		2203	4300	6503	SO:0001583	missense	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077516T>C		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.353A>G	9.37:g.21077516T>C	ENSP00000369581:p.His118Arg						p.H118R	NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	427	-			118					Q5VWC9	Missense_Mutation	SNP	ENST00000380232.2	37	c.353A>G	CCDS6495.1	.	.	.	.	.	.	.	.	.	.	T	0.923	-0.715323	0.03206	.	.	ENSG00000171855	ENST00000380232	T	0.03094	4.05	5.42	-10.8	0.00216	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.349570	0.04472	N	0.376214	T	0.02342	0.0072	N	0.21448	0.665	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.30297	-0.9983	10	0.40728	T	0.16	7.5659	5.3799	0.16186	0.1452:0.5196:0.169:0.1662	.	118	P01574	IFNB_HUMAN	R	118	ENSP00000369581:H118R	ENSP00000369581:H118R	H	-	2	0	IFNB1	21067516	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.322000	0.01118	-4.047000	0.00078	-1.250000	0.01514	CAT		0.413	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		6	241	0	0	0	0.029380	0	6	241				
ZRSR2	8233	broad.mit.edu	37	X	15827371	15827371	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:15827371A>G	ENST00000307771.7	+	7	511	c.487A>G	c.(487-489)Aga>Gga	p.R163G		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	163					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					CGTGGATTTCAGAGTAATGGA	0.398			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	ENST00000307771.7				Rec	yes		X	Xp22.1	8233	"""F, S, Mis"""	"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""			L			"""MDS, CLL"""		0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48						c.(487-489)Aga>Gga		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2							122.0	108.0	113.0					X																	15827371		2203	4300	6503	SO:0001583	missense	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15827371A>G	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.487A>G	X.37:g.15827371A>G	ENSP00000303015:p.Arg163Gly						p.R163G	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN			7	511	+	Hepatocellular(33;0.183)		163					Q14D69	Missense_Mutation	SNP	ENST00000307771.7	37	c.487A>G	CCDS14172.1	.	.	.	.	.	.	.	.	.	.	A	2.717	-0.267517	0.05754	.	.	ENSG00000169249	ENST00000307771	D	0.85955	-2.05	5.46	2.84	0.33178	.	0.238464	0.47852	D	0.000210	T	0.74604	0.3738	L	0.44542	1.39	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.63786	-0.6558	10	0.27785	T	0.31	.	3.7214	0.08457	0.3904:0.4149:0.1947:0.0	.	163	Q15696	U2AFM_HUMAN	G	163	ENSP00000303015:R163G	ENSP00000303015:R163G	R	+	1	2	ZRSR2	15737292	1.000000	0.71417	0.044000	0.18714	0.046000	0.14306	4.954000	0.63631	0.774000	0.33427	0.481000	0.45027	AGA		0.398	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		3	105	0	0	0	0.150653	0	3	105				
IGHV3-20	28445	broad.mit.edu	37	14	106667852	106667852	+	RNA	SNP	C	C	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr14:106667852C>A	ENST00000390606.2	-	0	141				AB019440.50_ENST00000605005.1_lincRNA					immunoglobulin heavy variable 3-20																		CACACCTCCCCCAGACTCCAC	0.562																																						ENST00000390606.2																			0																																																			0							g.chr14:106667852C>A	M99657		14q32.33	2012-02-08			ENSG00000211946	ENSG00000211946		"""Immunoglobulins / IGH locus"""	5585	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152285		14.37:g.106667852C>A														0	141	-									RNA	SNP	ENST00000390606.2	37																																																																																						0.562	IGHV3-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325673.1	NG_001019		7	80	1	0	0.000157383	0.038147	0.00016281	7	80				
CNTFR	1271	broad.mit.edu	37	9	34556300	34556300	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr9:34556300T>C	ENST00000378980.3	-	7	1014	c.721A>G	c.(721-723)Aag>Gag	p.K241E	CNTFR_ENST00000351266.4_Missense_Mutation_p.K241E	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	241	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGAAAGAACTTGAGAGGAAAA	0.607																																						ENST00000378980.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15						c.(721-723)Aag>Gag		ciliary neurotrophic factor receptor							84.0	63.0	70.0					9																	34556300		2203	4300	6503	SO:0001583	missense	1271				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding	g.chr9:34556300T>C	M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.721A>G	9.37:g.34556300T>C	ENSP00000368265:p.Lys241Glu					CNTFR_ENST00000351266.4_Missense_Mutation_p.K241E	p.K241E	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)	7	1014	-	all_epithelial(49;0.0899)		241			Fibronectin type-III 2.		Q5U050	Missense_Mutation	SNP	ENST00000378980.3	37	c.721A>G	CCDS6558.1	.	.	.	.	.	.	.	.	.	.	t	32	5.157486	0.94686	.	.	ENSG00000122756	ENST00000378980;ENST00000351266;ENST00000417345	T;T;T	0.68624	0.39;0.39;-0.34	5.52	5.52	0.82312	Long hematopoietin receptor, soluble alpha chain, conserved site (1);Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055638	0.64402	D	0.000001	T	0.80628	0.4659	M	0.73430	2.235	0.30854	N	0.734262	D	0.76494	0.999	D	0.78314	0.991	D	0.84722	0.0740	9	0.56958	D	0.05	.	13.6281	0.62178	0.0:0.0:0.0:1.0	.	241	P26992	CNTFR_HUMAN	E	241	ENSP00000368265:K241E;ENSP00000242338:K241E;ENSP00000388082:K241E	ENSP00000242338:K241E	K	-	1	0	CNTFR	34546300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.652000	0.83633	2.097000	0.63578	0.529000	0.55759	AAG		0.607	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1			9	21	0	0	0	0.047766	0	9	21				
BSG	682	broad.mit.edu	37	19	578038	578038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:578038G>A	ENST00000333511.3	+	2	402	c.332G>A	c.(331-333)aGc>aAc	p.S111N	BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	111					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGGGCCAGCAACGACCCG	0.682																																						ENST00000333511.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(331-333)aGc>aAc		basigin							24.0	22.0	23.0					19																	578038		2198	4298	6496	SO:0001583	missense	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:578038G>A	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.332G>A	19.37:g.578038G>A	ENSP00000333769:p.Ser111Asn					BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron	p.S111N	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	402	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	111					A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	c.332G>A	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715379	0.68844	.	.	ENSG00000172270	ENST00000333511	T	0.68025	-0.3	2.86	1.79	0.24919	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.131572	0.52532	U	0.000063	T	0.77968	0.4210	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74839	-0.3528	10	0.45353	T	0.12	-19.7638	8.7841	0.34809	0.1193:0.0:0.8807:0.0	.	111	P35613	BASI_HUMAN	N	111	ENSP00000333769:S111N	ENSP00000333769:S111N	S	+	2	0	BSG	529038	1.000000	0.71417	0.992000	0.48379	0.942000	0.58702	4.414000	0.59802	0.289000	0.22422	0.462000	0.41574	AGC		0.682	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		12	8	0	0	0	0.093190	0	12	8				
TUBA4A	7277	broad.mit.edu	37	2	220115527	220115527	+	Silent	SNP	A	A	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:220115527A>G	ENST00000248437.4	-	4	1067	c.894T>C	c.(892-894)ccT>ccC	p.P298P	TUBA4A_ENST00000392088.2_Silent_p.P283P|TUBA4A_ENST00000498660.1_5'UTR|TUBA4B_ENST00000490341.1_RNA	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	298					'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)	TCTGGTTGGCAGGCTCAAAGC	0.577																																						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.(847-849)ccT>ccC		tubulin, alpha 4a							115.0	105.0	108.0					2																	220115527		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:220115527A>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.894T>C	2.37:g.220115527A>G						TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Silent_p.P298P	p.P283P	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	1404	-		Renal(207;0.0474)	298					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.849T>C	CCDS2438.1																																																																																				0.577	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		3	82	0	0	0	0.150653	0	3	82				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			4	59	0	0	0	0.014758	0	4	59				
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TCACTGACATCGAAGGCTGCC	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659593C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659593C>T								NR_003714.1						0	3118	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	15	0	0	0	0.038147	0	3	15				
SLCO4C1	353189	broad.mit.edu	37	5	101585438	101585438	+	Silent	SNP	C	C	T	rs373573471		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr5:101585438C>T	ENST00000310954.6	-	9	1810	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATATGATCGCGAACAGTTAC	0.408																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1522-1524)tcG>tcA		solute carrier organic anion transporter family, member 4C1		C		0,4406		0,0,2203	102.0	100.0	101.0		1524	2.6	0.4	5		101	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SLCO4C1	NM_180991.4		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		508/725	101585438	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101585438C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1524G>A	5.37:g.101585438C>T							p.S508S	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	9	1810	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	508			Kazal-like.			Silent	SNP	ENST00000310954.6	37	c.1524G>A	CCDS34205.1																																																																																				0.408	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		33	31	0	0	0	0.064281	0	33	31				
IL23R	149233	broad.mit.edu	37	1	67672664	67672664	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:67672664T>C	ENST00000347310.5	+	6	895	c.724T>C	c.(724-726)Tgg>Cgg	p.W242R	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.W242R|IL23R_ENST00000395227.1_5'Flank	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	242	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CATAATTTATTGGGATAGTCA	0.353																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(724-726)Tgg>Cgg		interleukin 23 receptor							78.0	74.0	76.0					1																	67672664		2203	4300	6503	SO:0001583	missense	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67672664T>C	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.724T>C	1.37:g.67672664T>C	ENSP00000321345:p.Trp242Arg					C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.W242R	p.W242R	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			6	895	+			242			Fibronectin type-III 2.		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	c.724T>C	CCDS637.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321609	0.41096	.	.	ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000540911;ENST00000371002;ENST00000543799	D;D	0.95205	-3.64;-3.64	5.98	5.98	0.97165	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94414	0.8203	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;1.0;0.999	D	0.95570	0.8637	10	0.87932	D	0	-8.8067	12.854	0.57873	0.0:0.0:0.0:1.0	.	96;96;101;96;149;242;242	B6HY71;B6HY89;E9PG12;B6HY79;B6VNT7;Q5VWK5-3;Q5VWK5	.;.;.;.;.;.;IL23R_HUMAN	R	242;101;101;242;197	ENSP00000321345:W242R;ENSP00000360041:W242R	ENSP00000321345:W242R	W	+	1	0	IL23R	67445252	0.997000	0.39634	0.751000	0.31187	0.076000	0.17211	4.051000	0.57412	2.289000	0.77006	0.533000	0.62120	TGG		0.353	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		10	40	0	0	0	0.058154	0	10	40				
NOTCH3	4854	broad.mit.edu	37	19	15276774	15276774	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:15276774G>C	ENST00000263388.2	-	30	5566	c.5491C>G	c.(5491-5493)Ctt>Gtt	p.L1831V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1831					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGTGCCCCAAGCTGAGCCCCC	0.612																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5491-5493)Ctt>Gtt		notch 3							72.0	60.0	64.0					19																	15276774		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276774G>C	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5491C>G	19.37:g.15276774G>C	ENSP00000263388:p.Leu1831Val						p.L1831V	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		30	5566	-			1831					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5491C>G	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719933	0.89205	.	.	ENSG00000074181	ENST00000263388	T	0.62498	0.02	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.000000	0.29572	N	0.011763	T	0.64360	0.2591	N	0.05534	-0.03	0.80722	D	1	D	0.65815	0.995	D	0.80764	0.994	T	0.72286	-0.4338	10	0.72032	D	0.01	.	18.0231	0.89261	0.0:0.0:1.0:0.0	.	1831	Q9UM47	NOTC3_HUMAN	V	1831	ENSP00000263388:L1831V	ENSP00000263388:L1831V	L	-	1	0	NOTCH3	15137774	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	4.650000	0.61440	2.790000	0.95986	0.655000	0.94253	CTT		0.612	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		4	32	0	0	0	0.014758	0	4	32				
SLC16A12	387700	broad.mit.edu	37	10	91192821	91192821	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr10:91192821T>C	ENST00000341233.4	-	8	1851	c.1461A>G	c.(1459-1461)tgA>tgG	p.*487W	SLC16A12_ENST00000371790.4_Nonstop_Mutation_p.*517W	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGGCCTTTGGTCATGTGAGGC	0.478																																						ENST00000341233.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						c.(1459-1461)tgA>tgG		solute carrier family 16, member 12							71.0	68.0	69.0					10																	91192821		2203	4300	6503	SO:0001578	stop_lost	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91192821T>C		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.1461A>G	10.37:g.91192821T>C	ENSP00000343022:p.*487Cysext*46					SLC16A12_ENST00000371790.4_Nonstop_Mutation_p.*517W	p.*487W	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN			8	1851	-			0					Q5M9M9|Q5T7J2|Q6ZV76	Nonstop_Mutation	SNP	ENST00000341233.4	37	c.1461A>G		.	.	.	.	.	.	.	.	.	.	T	7.483	0.649083	0.14516	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3157	0.49390	0.0:0.0:0.152:0.848	.	.	.	.	W	487;517	.	.	X	-	3	0	SLC16A12	91182801	1.000000	0.71417	0.998000	0.56505	0.076000	0.17211	3.365000	0.52335	2.212000	0.71576	0.260000	0.18958	TGA		0.478	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		22	50	0	0	0	0.062417	0	22	50				
XYLT1	64131	broad.mit.edu	37	16	17228396	17228396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr16:17228396G>A	ENST00000261381.6	-	9	2045	c.1961C>T	c.(1960-1962)tCc>tTc	p.S654F	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	654					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGGGCAAAGGAGTGGTACAA	0.627																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1960-1962)tCc>tTc		xylosyltransferase I							102.0	86.0	91.0					16																	17228396		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17228396G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1961C>T	16.37:g.17228396G>A	ENSP00000261381:p.Ser654Phe					CTD-2576D5.4_ENST00000567344.1_RNA	p.S654F	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			9	2045	-			654					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1961C>T	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183701	0.94885	.	.	ENSG00000103489	ENST00000261381	T	0.61392	0.11	5.33	5.33	0.75918	.	0.228536	0.46758	D	0.000278	T	0.72946	0.3524	M	0.64997	1.995	0.58432	D	0.999999	D	0.60160	0.987	D	0.63488	0.915	T	0.75772	-0.3200	10	0.87932	D	0	-32.3224	18.0069	0.89212	0.0:0.0:1.0:0.0	.	654	Q86Y38	XYLT1_HUMAN	F	654	ENSP00000261381:S654F	ENSP00000261381:S654F	S	-	2	0	XYLT1	17135897	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.828000	0.99408	2.489000	0.83994	0.561000	0.74099	TCC		0.627	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		20	53	0	0	0	0.049695	0	20	53				
DQX1	165545	broad.mit.edu	37	2	74747092	74747092	+	Missense_Mutation	SNP	G	G	A	rs201543859		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:74747092G>A	ENST00000404568.3	-	9	1784	c.1565C>T	c.(1564-1566)aCg>aTg	p.T522M	DQX1_ENST00000393951.2_Missense_Mutation_p.T522M	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	522						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GTCACCATCCGTGTGTTCCAG	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19452	0.0		0.0	False		,,,				2504	0.0					ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1564-1566)aCg>aTg		DEAQ box RNA-dependent ATPase 1		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	102.0	106.0	104.0		1565	2.1	0.0	2		104	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DQX1	NM_133637.2	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	522/718	74747092	2,13004	2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74747092G>A	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1565C>T	2.37:g.74747092G>A	ENSP00000384621:p.Thr522Met					DQX1_ENST00000393951.2_Missense_Mutation_p.T522M	p.T522M	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			9	1784	-			522					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.1565C>T	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	4.826	0.153625	0.09185	2.27E-4	1.16E-4	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02737	4.18;4.18	5.05	2.07	0.26955	Helicase-associated domain (2);	1.254870	0.05621	N	0.579844	T	0.03011	0.0089	N	0.25825	0.765	0.09310	N	1	P	0.43477	0.808	B	0.39562	0.303	T	0.47222	-0.9134	10	0.51188	T	0.08	-16.6434	6.6774	0.23102	0.4337:0.0:0.5663:0.0	.	522	Q8TE96	DQX1_HUMAN	M	522	ENSP00000377523:T522M;ENSP00000384621:T522M	ENSP00000377523:T522M	T	-	2	0	DQX1	74600600	0.015000	0.18098	0.001000	0.08648	0.130000	0.20726	1.888000	0.39708	0.223000	0.20920	-0.345000	0.07892	ACG		0.512	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		10	111	0	0	0	0.080935	0	10	111				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			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		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(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>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		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.chr2:209113113G>C		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.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			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.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			39	50	0	0	0	0.080422	0	39	50				
TSC22D4	81628	broad.mit.edu	37	7	100064708	100064708	+	Silent	SNP	C	C	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr7:100064708C>A	ENST00000300181.2	-	5	1816	c.1062G>T	c.(1060-1062)cgG>cgT	p.R354R	C7orf61_ENST00000332375.3_5'Flank|TSC22D4_ENST00000496728.1_Intron|TSC22D4_ENST00000393991.1_Silent_p.R115R	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	354	Leucine-zipper.				negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGCAGCGTTCCGCTCCGCCA	0.697																																						ENST00000300181.2																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(1060-1062)cgG>cgT		TSC22 domain family, member 4							47.0	47.0	47.0					7																	100064708		2203	4300	6503	SO:0001819	synonymous_variant	81628				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:100064708C>A	BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.1062G>T	7.37:g.100064708C>A						TSC22D4_ENST00000393991.1_Silent_p.R115R|TSC22D4_ENST00000496728.1_Intron	p.R354R	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN			5	1816	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		354			Leucine-zipper.		A4D2C3|A8MWR6|D6W5V9	Silent	SNP	ENST00000300181.2	37	c.1062G>T	CCDS5695.1	.	.	.	.	.	.	.	.	.	.	C	0.192	-1.052127	0.01981	.	.	ENSG00000166925	ENST00000423266	.	.	.	4.16	0.949	0.19566	.	.	.	.	.	T	0.51329	0.1668	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39035	-0.9633	4	.	.	.	-5.6745	5.3131	0.15841	0.0:0.6069:0.1736:0.2195	.	.	.	.	V	170	.	.	G	-	2	0	TSC22D4	99902644	0.968000	0.33430	0.975000	0.42487	0.005000	0.04900	0.145000	0.16157	0.364000	0.24374	0.591000	0.81541	GGA		0.697	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1	NM_030935		10	25	1	0	7.48243e-07	0.058154	8.01689e-07	10	25				
HMCN1	83872	broad.mit.edu	37	1	186105940	186105940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:186105940C>T	ENST00000271588.4	+	87	13682	c.13453C>T	c.(13453-13455)Cgg>Tgg	p.R4485W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4485	Ig-like C2-type 44.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGGATGACCGGGTTAACGT	0.428																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(13453-13455)Cgg>Tgg		hemicentin 1							107.0	112.0	110.0					1																	186105940		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186105940C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13453C>T	1.37:g.186105940C>T	ENSP00000271588:p.Arg4485Trp					HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485W	p.R4485W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			87	13682	+			4485			Ig-like C2-type 44.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13453C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.128001	0.56721	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.38077	1.16;1.16	5.19	3.24	0.37175	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055113	0.64402	D	0.000001	T	0.71247	0.3317	H	0.96633	3.855	0.48901	D	0.999726	D	0.89917	1.0	D	0.91635	0.999	T	0.80294	-0.1443	10	0.59425	D	0.04	.	14.0108	0.64495	0.4123:0.5876:0.0:0.0	.	4485	Q96RW7	HMCN1_HUMAN	W	4485	ENSP00000271588:R4485W;ENSP00000356462:R4485W	ENSP00000271588:R4485W	R	+	1	2	HMCN1	184372563	0.987000	0.35691	0.922000	0.36590	0.339000	0.28857	1.770000	0.38532	0.645000	0.30675	0.655000	0.94253	CGG		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		11	47	0	0	0	0.069234	0	11	47				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_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_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_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		23	6	0	0	0	0.069288	0	23	6				
FLT4	2324	broad.mit.edu	37	5	180046671	180046671	+	Silent	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr5:180046671G>A	ENST00000261937.6	-	18	2719	c.2641C>T	c.(2641-2643)Ctg>Ttg	p.L881L	FLT4_ENST00000393347.3_Silent_p.L881L|FLT4_ENST00000502649.1_Silent_p.L881L|FLT4_ENST00000424276.2_5'Flank	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	881	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACACCTTTCAGCATTTTCACG	0.657																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2641-2643)Ctg>Ttg		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						65.0	69.0	68.0					5																	180046671		2202	4299	6501	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180046671G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2641C>T	5.37:g.180046671G>A						FLT4_ENST00000393347.3_Silent_p.L881L|FLT4_ENST00000502649.1_Silent_p.L881L	p.L881L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	18	2719	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	881			Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.2641C>T	CCDS4457.1																																																																																				0.657	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			3	83	0	0	0	0.150653	0	3	83				
FAM86C1	55199	broad.mit.edu	37	11	71507232	71507232	+	Intron	SNP	C	C	G	rs113587125	byFrequency	TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:71507232C>G	ENST00000359244.4	+	4	434				FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000426628.2_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1											lung(1)	1						CACGCCCACCCGGGCCTGCAT	0.612													.|||	509	0.101637	0.152	0.1023	5008	,	,		18127	0.0198		0.1382	False		,,,				2504	0.0798					ENST00000528685.1																			0				lung(1)	1						c.(328-330)cCg>cGg		family with sequence similarity 86, member C1							84.0	97.0	92.0					11																	71507232		2200	4293	6493	SO:0001627	intron_variant	55199							g.chr11:71507232C>G	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.411+20C>G	11.37:g.71507232C>G						FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000346333.6_Intron	p.P110R			Q9NVL1	FA86C_HUMAN			3	329	+			0					Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	c.329C>G	CCDS41686.1	.	.	.	.	.	.	.	.	.	.	.	0.036	-1.308522	0.01342	.	.	ENSG00000158483	ENST00000528685	T	0.20598	2.06	0.993	-1.45	0.08828	.	.	.	.	.	T	0.13457	0.0326	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33548	-0.9864	5	.	.	.	.	4.8493	0.13530	0.0:0.5879:0.0:0.4121	.	.	.	.	R	110	ENSP00000436598:P110R	.	P	+	2	0	FAM86C1	71184880	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	-0.734000	0.04893	-0.792000	0.04480	-1.109000	0.02080	CCG		0.612	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		4	139	0	0	0	0.029380	0	4	139				
PIWIL2	55124	broad.mit.edu	37	8	22173813	22173813	+	Missense_Mutation	SNP	G	G	A	rs199956088		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr8:22173813G>A	ENST00000454009.2	+	19	2773	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	PIWIL2_ENST00000356766.6_Missense_Mutation_p.R755H|PIWIL2_ENST00000521356.1_Missense_Mutation_p.R755H	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	755	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGAGGCATGCGCTCCGTGGTT	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17249	0.0		0.0	False		,,,				2504	0.0					ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2263-2265)cGc>cAc		piwi-like RNA-mediated gene silencing 2							145.0	128.0	134.0					8																	22173813		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22173813G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2264G>A	8.37:g.22173813G>A	ENSP00000406956:p.Arg755His					PIWIL2_ENST00000521356.1_Missense_Mutation_p.R755H|PIWIL2_ENST00000454009.2_Missense_Mutation_p.R755H	p.R755H	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	19	2412	+			755			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.2264G>A	CCDS6029.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.51	3.639286	0.67244	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.30448	1.53;1.53;1.53	5.28	5.28	0.74379	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.104827	0.64402	D	0.000005	T	0.29945	0.0749	L	0.43152	1.355	0.50467	D	0.999873	P;P	0.50943	0.867;0.94	B;B	0.40565	0.333;0.333	T	0.07712	-1.0758	10	0.51188	T	0.08	-10.1519	18.0477	0.89337	0.0:0.0:1.0:0.0	.	755;755	E7ECA4;Q8TC59	.;PIWL2_HUMAN	H	755	ENSP00000349208:R755H;ENSP00000428267:R755H;ENSP00000406956:R755H	ENSP00000349208:R755H	R	+	2	0	PIWIL2	22229758	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.375000	0.73137	2.607000	0.88179	0.655000	0.94253	CGC		0.413	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			18	21	0	0	0	0.055883	0	18	21				
GIPC3	126326	broad.mit.edu	37	19	3589856	3589856	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:3589856C>T	ENST00000322315.5	+	5	778	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	245										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCATCTCGGAAGGTTGA	0.657																																						ENST00000322315.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(733-735)Cgg>Tgg		GIPC PDZ domain containing family, member 3							81.0	84.0	83.0					19																	3589856		2203	4300	6503	SO:0001583	missense	126326							g.chr19:3589856C>T	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.733C>T	19.37:g.3589856C>T	ENSP00000319254:p.Arg245Trp						p.R245W	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	5	778	+			245					O75227	Missense_Mutation	SNP	ENST00000322315.5	37	c.733C>T	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	c	12.42	1.933305	0.34096	.	.	ENSG00000179855	ENST00000322315	D	0.81739	-1.53	4.72	2.36	0.29203	.	0.509315	0.19319	N	0.117187	T	0.72503	0.3468	L	0.43152	1.355	0.09310	N	1	D	0.63880	0.993	P	0.47346	0.544	T	0.65643	-0.6118	10	0.72032	D	0.01	-10.0589	2.821	0.05471	0.1911:0.5232:0.185:0.1006	.	245	Q8TF64	GIPC3_HUMAN	W	245	ENSP00000319254:R245W	ENSP00000319254:R245W	R	+	1	2	GIPC3	3540856	0.000000	0.05858	0.085000	0.20634	0.262000	0.26303	0.476000	0.22180	0.943000	0.37553	0.486000	0.48141	CGG		0.657	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		15	86	0	0	0	0.043863	0	15	86				
SNX15	29907	broad.mit.edu	37	11	64803113	64803113	+	Silent	SNP	C	C	T	rs373488451		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:64803113C>T	ENST00000377244.3	+	6	772	c.642C>T	c.(640-642)ctC>ctT	p.L214L	SNX15_ENST00000352068.5_Silent_p.L214L|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	214					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						AGCTTGCCCTCTTCGACCCCT	0.647																																					Esophageal Squamous(56;269 1304 3324 8253)	ENST00000377244.3																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(640-642)ctC>ctT		sorting nexin 15		C	,	0,4402		0,0,2201	72.0	73.0	73.0		642,642	1.4	1.0	11		73	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	SNX15	NM_013306.4,NM_147777.3	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	214/343,214/257	64803113	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64803113C>T	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.642C>T	11.37:g.64803113C>T						SNX15_ENST00000301886.3_3'UTR	p.L214L	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN			6	772	+			214					E5KQS6|Q9NRS5	Silent	SNP	ENST00000377244.3	37	c.642C>T	CCDS8089.1																																																																																				0.647	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			4	120	0	0	0	0.014758	0	4	120				
TPTE2	93492	broad.mit.edu	37	13	20039401	20039401	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr13:20039401C>T	ENST00000400230.2	-	9	714	c.670G>A	c.(670-672)Gtt>Att	p.V224I	TPTE2_ENST00000382975.4_Missense_Mutation_p.V184I|TPTE2_ENST00000382977.4_Missense_Mutation_p.V224I|TPTE2_ENST00000457266.2_Missense_Mutation_p.V113I|TPTE2_ENST00000382978.1_Missense_Mutation_p.V184I|TPTE2_ENST00000390680.2_Missense_Mutation_p.V147I|TPTE2_ENST00000255310.6_Missense_Mutation_p.V147I|TPTE2_ENST00000400103.2_Missense_Mutation_p.V113I			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	224	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAACCTGTAACGTAAGTGAGG	0.323																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(670-672)Gtt>Att		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							193.0	174.0	181.0					13																	20039401		2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039401C>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.670G>A	13.37:g.20039401C>T	ENSP00000383089:p.Val224Ile					TPTE2_ENST00000255310.6_Missense_Mutation_p.V147I|TPTE2_ENST00000457266.2_Missense_Mutation_p.V113I|TPTE2_ENST00000382978.1_Missense_Mutation_p.V184I|TPTE2_ENST00000390680.2_Missense_Mutation_p.V147I|TPTE2_ENST00000400103.2_Missense_Mutation_p.V113I|TPTE2_ENST00000382975.4_Missense_Mutation_p.V184I|TPTE2_ENST00000382977.4_Missense_Mutation_p.V224I	p.V224I			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	9	714	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	224			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.670G>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-2.984931	0.00046	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	3.2	-3.69	0.04450	Phosphatase tensin type (1);	0.206923	0.41194	N	0.000924	D	0.91808	0.7408	N	0.11756	0.17	0.09310	N	0.99999	B;B;B	0.13594	0.002;0.002;0.008	B;B;B	0.08055	0.002;0.003;0.003	D	0.83619	0.0138	9	.	.	.	-16.5093	9.3017	0.37849	0.0:0.4165:0.0:0.5835	.	113;147;224	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	I	184;113;224;147;147;224;184;113;224;93	ENSP00000372438:V184I;ENSP00000382974:V113I;ENSP00000383089:V224I;ENSP00000255310:V147I;ENSP00000375098:V147I;ENSP00000372437:V224I;ENSP00000372435:V184I;ENSP00000442218:V113I	.	V	-	1	0	TPTE2	18937401	0.007000	0.16637	0.007000	0.13788	0.000000	0.00434	0.002000	0.13061	-1.292000	0.02366	-2.347000	0.00243	GTT		0.323	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		7	192	0	0	0	0.038147	0	7	192				
LILRB4	11006	broad.mit.edu	37	19	55178179	55178179	+	Silent	SNP	C	C	T	rs149652762		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:55178179C>T	ENST00000391736.1	+	12	1335	c.1020C>T	c.(1018-1020)gaC>gaT	p.D340D	LILRB4_ENST00000391733.3_Silent_p.D341D|LILRB4_ENST00000430952.2_Silent_p.D340D|LILRB4_ENST00000391734.3_Silent_p.D340D|LILRB4_ENST00000270452.2_Silent_p.D340D	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	340					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCCTGAGGACGGGGTGGAAA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17708	0.0		0.0	False		,,,				2504	0.001					ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(1018-1020)gaC>gaT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4		C	,	3,4403	6.2+/-15.9	0,3,2200	119.0	110.0	113.0		1020,1020	-3.8	0.0	19	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous,coding-synonymous	LILRB4	NM_001081438.1,NM_006847.3	,	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	,	340/448,340/449	55178179	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55178179C>T	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1020C>T	19.37:g.55178179C>T						LILRB4_ENST00000430952.2_Silent_p.D340D|LILRB4_ENST00000391733.3_Silent_p.D341D|LILRB4_ENST00000391734.3_Silent_p.D340D|LILRB4_ENST00000270452.2_Silent_p.D340D	p.D340D	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	12	1335	+			340					A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	ENST00000391736.1	37	c.1020C>T	CCDS12902.1																																																																																				0.607	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			48	51	0	0	0	0.139131	0	48	51				
SLFN11	91607	broad.mit.edu	37	17	33689983	33689983	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:33689983G>T	ENST00000394566.1	-	4	1116	c.844C>A	c.(844-846)Cct>Act	p.P282T	SLFN11_ENST00000308377.4_Missense_Mutation_p.P282T	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	282					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGAACACAAGGTAGTTTGTAT	0.418																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(844-846)Cct>Act		schlafen family member 11							210.0	208.0	209.0					17																	33689983		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33689983G>T	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.844C>A	17.37:g.33689983G>T	ENSP00000378067:p.Pro282Thr					SLFN11_ENST00000308377.4_Missense_Mutation_p.P282T	p.P282T	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1116	-		Ovarian(249;0.17)	282					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.844C>A	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304365	0.40795	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.60299	0.2;0.2	4.32	3.36	0.38483	.	0.000000	0.38548	N	0.001650	T	0.62829	0.2460	M	0.83953	2.67	0.09310	N	1	P	0.47604	0.898	P	0.47346	0.544	T	0.58814	-0.7570	10	0.54805	T	0.06	.	8.0226	0.30419	0.1109:0.0:0.8891:0.0	.	282	Q7Z7L1	SLN11_HUMAN	T	282	ENSP00000312402:P282T;ENSP00000378067:P282T	ENSP00000312402:P282T	P	-	1	0	SLFN11	30714096	0.009000	0.17119	0.012000	0.15200	0.002000	0.02628	1.145000	0.31577	1.046000	0.40249	0.650000	0.86243	CCT		0.418	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		4	182	1	0	0.00909568	0.150653	0.00924984	4	182				
GPRIN3	285513	broad.mit.edu	37	4	90169964	90169964	+	Missense_Mutation	SNP	G	G	A	rs200774072	byFrequency	TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr4:90169964G>A	ENST00000609438.1	-	2	1816	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	GPRIN3_ENST00000333209.4_Missense_Mutation_p.T433M	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	433										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTCTTTACACGTATGCTGGGC	0.468													G|||	2	0.000399361	0.0	0.0	5008	,	,		21189	0.0		0.002	False		,,,				2504	0.0					ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1297-1299)aCg>aTg		GPRIN family member 3							96.0	98.0	97.0					4																	90169964		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169964G>A	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1298C>T	4.37:g.90169964G>A	ENSP00000476603:p.Thr433Met						p.T433M	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1816	-		Hepatocellular(203;0.114)	433					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1298C>T	CCDS34030.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.994	0.553624	0.13374	.	.	ENSG00000185477	ENST00000333209	T	0.10668	2.85	5.01	-5.36	0.02689	.	1.341180	0.05528	N	0.563484	T	0.04952	0.0133	L	0.29908	0.895	0.09310	N	1	P	0.42757	0.789	B	0.27500	0.08	T	0.22730	-1.0208	10	0.46703	T	0.11	6.9316	3.4803	0.07599	0.4111:0.1707:0.3316:0.0866	.	433	Q6ZVF9	GRIN3_HUMAN	M	433	ENSP00000328672:T433M	ENSP00000328672:T433M	T	-	2	0	GPRIN3	90388987	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.354000	0.07681	-1.744000	0.01338	-3.004000	0.00076	ACG		0.468	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		17	100	0	0	0	0.175082	0	17	100				
CBR3	874	broad.mit.edu	37	21	37518618	37518618	+	Silent	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr21:37518618G>A	ENST00000290354.5	+	3	923	c.642G>A	c.(640-642)gaG>gaA	p.E214E	CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000427491.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	214					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	GTCTGGATGAGAAGAGGAAAG	0.567																																						ENST00000290354.5																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(640-642)gaG>gaA		carbonyl reductase 3							88.0	85.0	86.0					21																	37518618		2203	4300	6503	SO:0001819	synonymous_variant	874					cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding	g.chr21:37518618G>A	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.642G>A	21.37:g.37518618G>A						CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	p.E214E	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN			3	923	+			214					Q6FHP2	Silent	SNP	ENST00000290354.5	37	c.642G>A	CCDS13642.1																																																																																				0.567	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1			5	18	0	0	0	0.014758	0	5	18				
GANAB	23193	broad.mit.edu	37	11	62396710	62396710	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:62396710G>C	ENST00000356638.3	-	16	1908	c.1892C>G	c.(1891-1893)cCt>cGt	p.P631R	GANAB_ENST00000540933.1_Missense_Mutation_p.P534R|GANAB_ENST00000346178.4_Missense_Mutation_p.P653R|GANAB_ENST00000534779.1_Missense_Mutation_p.P539R	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	631					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GAGACACATAGGAATAGAGAT	0.537																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(1957-1959)cCt>cGt		glucosidase, alpha; neutral AB							105.0	96.0	99.0					11																	62396710		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62396710G>C	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1892C>G	11.37:g.62396710G>C	ENSP00000349053:p.Pro631Arg					GANAB_ENST00000356638.3_Missense_Mutation_p.P631R|GANAB_ENST00000534779.1_Missense_Mutation_p.P539R|GANAB_ENST00000540933.1_Missense_Mutation_p.P534R	p.P653R	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			17	1973	-			631					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.1958C>G	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435360	0.83885	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.19	5.19	0.71726	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94059	0.8096	L	0.58302	1.8	0.80722	D	1	D;D;D;P	0.69078	0.997;0.997;0.986;0.928	D;D;P;P	0.79784	0.993;0.99;0.897;0.771	D	0.94271	0.7511	10	0.72032	D	0.01	-18.9859	16.2584	0.82528	0.0:0.0:1.0:0.0	.	517;539;631;653	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	R	653;631;539;534	ENSP00000340466:P653R;ENSP00000349053:P631R;ENSP00000435306:P539R;ENSP00000442962:P534R	ENSP00000340466:P653R	P	-	2	0	GANAB	62153286	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.606000	0.98325	2.711000	0.92665	0.655000	0.94253	CCT		0.537	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		3	69	0	0	0	0.115264	0	3	69				
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	lincRNA	SNP	T	T	C	rs80149641		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323																																						ENST00000423385.1																			0																																																			0							g.chr1:142803493T>C																													1.37:g.142803493T>C														0	1472	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.323	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	97	0	0	0	0.115264	0	3	97				
ESYT3	83850	broad.mit.edu	37	3	138187557	138187557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr3:138187557C>T	ENST00000389567.4	+	13	1555	c.1369C>T	c.(1369-1371)Ccg>Tcg	p.P457S		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	457	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGCAACTTGCCGGTGAGTGG	0.527																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(1369-1371)Ccg>Tcg		extended synaptotagmin-like protein 3							217.0	183.0	195.0					3																	138187557		2203	4300	6503	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138187557C>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1369C>T	3.37:g.138187557C>T	ENSP00000374218:p.Pro457Ser						p.P457S	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			13	1555	+			457			C2 2.		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.1369C>T	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452411	0.63290	.	.	ENSG00000158220	ENST00000389567	T	0.41400	1.0	3.91	3.91	0.45181	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.132495	0.51477	D	0.000083	T	0.66896	0.2836	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72047	-0.4408	10	0.54805	T	0.06	-2.2666	11.2894	0.49241	0.0:1.0:0.0:0.0	.	457	A0FGR9	ESYT3_HUMAN	S	457	ENSP00000374218:P457S	ENSP00000374218:P457S	P	+	1	0	ESYT3	139670247	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	4.189000	0.58358	2.022000	0.59522	0.462000	0.41574	CCG		0.527	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		4	173	0	0	0	0.150653	0	4	173				
LAMA5	3911	broad.mit.edu	37	20	60897105	60897105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:60897105C>T	ENST00000252999.3	-	48	6532	c.6466G>A	c.(6466-6468)Ggg>Agg	p.G2156R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2156	Laminin EGF-like 22. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCCACAGGCCCGCCTGGAACA	0.657																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(6466-6468)Ggg>Agg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						45.0	41.0	42.0					20																	60897105		2195	4284	6479	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60897105C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6466G>A	20.37:g.60897105C>T	ENSP00000252999:p.Gly2156Arg						p.G2156R	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		48	6532	-	Breast(26;1.57e-08)		2156			Laminin EGF-like 22.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.6466G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	5.668	0.307854	0.10733	.	.	ENSG00000130702	ENST00000252999	T	0.19394	2.15	4.19	-4.59	0.03400	EGF-like, laminin (2);	0.764022	0.12436	N	0.469157	T	0.08133	0.0203	N	0.08118	0	0.09310	N	0.999997	B	0.13145	0.007	B	0.08055	0.003	T	0.20140	-1.0284	10	0.40728	T	0.16	.	6.483	0.22073	0.0:0.3941:0.1231:0.4828	.	2156	O15230	LAMA5_HUMAN	R	2156	ENSP00000252999:G2156R	ENSP00000252999:G2156R	G	-	1	0	LAMA5	60330500	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.024000	0.13555	-1.315000	0.02297	-0.494000	0.04653	GGG		0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		9	31	0	0	0	0.069234	0	9	31				
FAM58A	92002	broad.mit.edu	37	X	152853848	152853848	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:152853848T>A	ENST00000406277.2	-	7	818	c.716A>T	c.(715-717)tAt>tTt	p.Y239F	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	241					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)					endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCATGGTATAAATCTGAAT	0.483																																						ENST00000406277.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6						c.(715-717)tAt>tTt		family with sequence similarity 58, member A							133.0	122.0	126.0					X																	152853848		2203	4298	6501	SO:0001583	missense	92002				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chrX:152853848T>A	BC032121	CCDS76054.1	Xq28	2014-08-12	2012-11-30	2012-11-30	ENSG00000147382	ENSG00000262919			28434	protein-coding gene	gene with protein product	"""cyclin M"""	300708				18297069, 24218572	Standard	NM_152274		Approved	MGC29729, FLJ21610	uc011myr.2	Q8N1B3	OTTHUMG00000024206	ENST00000406277.2:c.716A>T	X.37:g.152853848T>A	ENSP00000384396:p.Tyr239Phe					FAM58A_ENST00000370175.4_5'UTR	p.Y239F	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN			7	818	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		241					Q2I380|Q330J9|Q96IU5|Q9BUU1	Missense_Mutation	SNP	ENST00000406277.2	37	c.716A>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	t|t|t	9.086|9.086|9.086	1.000540|1.000540|1.000540	0.19121|0.19121|0.19121	.|.|.	.|.|.	ENSG00000147382|ENSG00000147382|ENSG00000147382	ENST00000428722|ENST00000429336;ENST00000440428|ENST00000370175;ENST00000406277;ENST00000370171;ENST00000276345;ENST00000370173	.|.|T	.|.|0.56275	.|.|0.47	4.43|4.43|4.43	4.43|4.43|4.43	0.53597|0.53597|0.53597	.|.|Cyclin-like (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.74876|0.74876|0.74876	0.3774|0.3774|0.3774	M|M|M	0.88377|0.88377|0.88377	2.95|2.95|2.95	0.48830|0.48830|0.48830	D|D|D	0.999711|0.999711|0.999711	.|.|D;D;D	.|.|0.71674	.|.|0.998;0.998;0.998	.|.|D;D;D	.|.|0.76071	.|.|0.987;0.955;0.955	T|T|T	0.80049|0.80049|0.80049	-0.1545|-0.1545|-0.1545	6|5|10	0.02654|.|0.72032	T|.|D	1|.|0.01	-11.6841|-11.6841|-11.6841	12.3529|12.3529|12.3529	0.55159|0.55159|0.55159	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|.|221;241;239	.|.|Q8N1B3-2;Q8N1B3;B5MD73	.|.|.;FA58A_HUMAN;.	L|F|F	67|86;113|207;239;187;239;219	.|.|ENSP00000384396:Y239F	ENSP00000391173:I67L|.|ENSP00000276345:Y239F	I|L|Y	-|-|-	1|3|2	0|2|0	FAM58A|FAM58A|FAM58A	152507042|152507042|152507042	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	5.069000|5.069000|5.069000	0.64370|0.64370|0.64370	1.715000|1.715000|1.715000	0.51383|0.51383|0.51383	0.430000|0.430000|0.430000	0.28490|0.28490|0.28490	ATA|TTA|TAT		0.483	FAM58A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152274		28	125	0	0	0	0.163468	0	28	125				
EPG5	57724	broad.mit.edu	37	18	43447537	43447537	+	Silent	SNP	T	T	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr18:43447537T>C	ENST00000282041.5	-	37	6436	c.6402A>G	c.(6400-6402)gtA>gtG	p.V2134V	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2134					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGTTTGGTCTACCAGTTGAA	0.428																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(6400-6402)gtA>gtG		ectopic P-granules autophagy protein 5 homolog (C. elegans)							139.0	138.0	139.0					18																	43447537		1883	4122	6005	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43447537T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6402A>G	18.37:g.43447537T>C						EPG5_ENST00000585906.1_5'UTR	p.V2134V	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			37	6436	-			2134					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.6402A>G	CCDS11926.2																																																																																				0.428	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		8	152	0	0	0	0.058154	0	8	152				
NRXN3	9369	broad.mit.edu	37	14	79933737	79933737	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr14:79933737C>G	ENST00000557594.1	+	2	1374	c.421C>G	c.(421-423)Ctt>Gtt	p.L141V	NRXN3_ENST00000554719.1_Missense_Mutation_p.L773V|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.L141V|NRXN3_ENST00000281127.7_Missense_Mutation_p.L141V|NRXN3_ENST00000335750.5_Missense_Mutation_p.L773V	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	141	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTCCTCCAGCTTCACATAGT	0.522																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(421-423)Ctt>Gtt		neurexin 3							91.0	80.0	84.0					14																	79933737		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79933737C>G	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.421C>G	14.37:g.79933737C>G	ENSP00000451672:p.Leu141Val					NRXN3_ENST00000335750.5_Missense_Mutation_p.L773V|NRXN3_ENST00000428277.2_Missense_Mutation_p.L141V|NRXN3_ENST00000554719.1_Missense_Mutation_p.L773V|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Missense_Mutation_p.L141V	p.L141V	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	2	1300	+		Renal(4;0.00876)	141			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.421C>G		.	.	.	.	.	.	.	.	.	.	C	28.5	4.927867	0.92389	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	D;D;T;T;T	0.85258	-1.96;-1.96;0.39;0.39;0.39	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.92456	0.7605	M	0.76727	2.345	0.80722	D	1	P;D;D;B	0.76494	0.93;0.999;0.995;0.231	D;D;D;B	0.78314	0.955;0.982;0.991;0.408	D	0.91270	0.5043	9	.	.	.	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	141;141;141;773	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	V	1146;1135;773;773;141;141;141	ENSP00000451648:L773V;ENSP00000338349:L773V;ENSP00000451672:L141V;ENSP00000281127:L141V;ENSP00000394426:L141V	.	L	+	1	0	NRXN3	79003490	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.806000	0.86020	2.797000	0.96272	0.655000	0.94253	CTT		0.522	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		5	36	0	0	0	0.014758	0	5	36				
EPHX4	253152	broad.mit.edu	37	1	92495797	92495797	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:92495797C>T	ENST00000370383.4	+	1	259	c.161C>T	c.(160-162)cCc>cTc	p.P54L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	54						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TTCCGGCGGCCCGCCCGGGAG	0.706																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(160-162)cCc>cTc		epoxide hydrolase 4							13.0	12.0	13.0					1																	92495797		2195	4288	6483	SO:0001583	missense	253152					integral to membrane	hydrolase activity	g.chr1:92495797C>T	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.161C>T	1.37:g.92495797C>T	ENSP00000359410:p.Pro54Leu						p.P54L	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			1	259	+			54					Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	c.161C>T	CCDS736.1	.	.	.	.	.	.	.	.	.	.	C	1.582	-0.531407	0.04112	.	.	ENSG00000172031	ENST00000370383	T	0.59083	0.29	3.79	-1.36	0.09085	.	1.336030	0.04912	N	0.453363	T	0.11024	0.0269	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11299	-1.0593	10	0.30854	T	0.27	.	8.1567	0.31173	0.0:0.3959:0.0:0.6041	.	54	Q8IUS5	EPHX4_HUMAN	L	54	ENSP00000359410:P54L	ENSP00000359410:P54L	P	+	2	0	EPHX4	92268385	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.417000	0.07088	-0.523000	0.06409	-0.339000	0.08088	CCC		0.706	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		3	3	0	0	0	0.150653	0	3	3				
RXFP1	59350	broad.mit.edu	37	4	159533494	159533494	+	Silent	SNP	A	A	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr4:159533494A>C	ENST00000307765.5	+	8	911	c.660A>C	c.(658-660)ggA>ggC	p.G220G	RXFP1_ENST00000470033.1_Silent_p.G187G|RXFP1_ENST00000460056.2_Silent_p.G139G|RXFP1_ENST00000448688.2_Silent_p.G139G|RXFP1_ENST00000343542.5_Silent_p.G220G	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	220					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CATTTTATGGACTAAATTCTC	0.274																																						ENST00000307765.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(658-660)ggA>ggC		relaxin/insulin-like family peptide receptor 1							67.0	61.0	63.0					4																	159533494		1785	4061	5846	SO:0001819	synonymous_variant	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159533494A>C	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.660A>C	4.37:g.159533494A>C						RXFP1_ENST00000470033.1_Silent_p.G187G|RXFP1_ENST00000448688.2_Silent_p.G139G|RXFP1_ENST00000460056.2_Silent_p.G139G|RXFP1_ENST00000343542.5_Silent_p.G220G	p.G220G	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	8	911	+	all_hematologic(180;0.24)	Renal(120;0.0854)	220					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Silent	SNP	ENST00000307765.5	37	c.660A>C	CCDS43276.1																																																																																				0.274	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		8	17	0	0	0	0.047766	0	8	17				
OR5M10	390167	broad.mit.edu	37	11	56345128	56345128	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:56345128C>G	ENST00000526812.2	-	1	135	c.70G>C	c.(70-72)Gag>Cag	p.E24Q		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AGGATCTTCTCTAGCACTGGG	0.463																																						ENST00000526812.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(70-72)Gag>Cag		olfactory receptor, family 5, subfamily M, member 10							168.0	158.0	161.0					11																	56345128		1925	4135	6060	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56345128C>G	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.70G>C	11.37:g.56345128C>G	ENSP00000436004:p.Glu24Gln						p.E24Q	NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN			1	135	-			24					B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.70G>C	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	C	0.115	-1.132828	0.01756	.	.	ENSG00000254834	ENST00000526812	T	0.00216	8.53	4.04	-2.57	0.06248	.	.	.	.	.	T	0.00039	0.0001	N	0.00134	-2.025	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28073	-1.0055	9	0.02654	T	1	.	10.1013	0.42507	0.0:0.1791:0.6424:0.1784	.	24	Q6IEU7	OR5MA_HUMAN	Q	24	ENSP00000436004:E24Q	ENSP00000436004:E24Q	E	-	1	0	OR5M10	56101704	0.010000	0.17322	0.001000	0.08648	0.054000	0.15201	0.878000	0.28126	-0.211000	0.10124	0.632000	0.83419	GAG		0.463	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		16	105	0	0	0	0.160694	0	16	105				
NUTM2F	54754	broad.mit.edu	37	9	97082584	97082584	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr9:97082584A>C	ENST00000253262.4	-	5	1294	c.1274T>G	c.(1273-1275)gTg>gGg	p.V425G	NUTM2F_ENST00000341207.4_Missense_Mutation_p.V410G|NUTM2F_ENST00000335456.7_Missense_Mutation_p.V410G	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	425																	CGGCTGCTCCACTTTGCCCTT	0.592																																						ENST00000335456.7																			0											c.(1228-1230)gTg>gGg		NUT family member 2F							71.0	86.0	81.0					9																	97082584		1943	4127	6070	SO:0001583	missense	54754							g.chr9:97082584A>C		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1274T>G	9.37:g.97082584A>C	ENSP00000253262:p.Val425Gly					NUTM2F_ENST00000341207.4_Missense_Mutation_p.V410G|NUTM2F_ENST00000253262.4_Missense_Mutation_p.V425G	p.V410G							6	1249	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	c.1229T>G	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	.	0.137	-1.106672	0.01828	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207;ENST00000375347	T;T;T	0.22743	1.94;2.76;2.76	1.2	-2.4	0.06583	Nuclear Testis protein, C-terminal (1);	10.701600	0.00166	N	0.000002	T	0.14013	0.0339	L	0.34521	1.04	0.09310	N	1	B	0.23540	0.087	B	0.18871	0.023	T	0.08617	-1.0713	10	0.25106	T	0.35	.	2.2004	0.03922	0.381:0.0:0.3426:0.2765	.	425	A1L443	FA22F_HUMAN	G	410;425;410;259	ENSP00000335067:V410G;ENSP00000253262:V425G;ENSP00000343865:V410G	ENSP00000253262:V425G	V	-	2	0	FAM22F	96122405	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.565000	0.05929	-1.239000	0.02532	-0.475000	0.04921	GTG		0.592	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		8	64	0	0	0	0.093190	0	8	64				
ATP11C	286410	broad.mit.edu	37	X	138850563	138850563	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:138850563T>A	ENST00000327569.3	-	20	2354	c.2256A>T	c.(2254-2256)ttA>ttT	p.L752F	ATP11C_ENST00000361648.2_Missense_Mutation_p.L752F|ATP11C_ENST00000370557.1_Missense_Mutation_p.L749F|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.L752F|ATP11C_ENST00000359686.2_Missense_Mutation_p.L752F	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	752					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CATCTATGATTAATCCATATT	0.313																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(2245-2247)ttA>ttT		ATPase, class VI, type 11C							97.0	84.0	89.0					X																	138850563		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138850563T>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2256A>T	X.37:g.138850563T>A	ENSP00000332756:p.Leu752Phe					ATP11C_ENST00000370543.1_Missense_Mutation_p.L752F|ATP11C_ENST00000359686.2_Missense_Mutation_p.L752F|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.L752F|ATP11C_ENST00000327569.3_Missense_Mutation_p.L752F	p.L749F			Q8NB49	AT11C_HUMAN			20	3274	-	Acute lymphoblastic leukemia(192;0.000127)		752					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.2247A>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.144925	0.57044	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39	5.47	-0.301	0.12800	HAD-like domain (1);	0.066944	0.56097	D	0.000035	D	0.91153	0.7214	M	0.81802	2.56	0.44181	D	0.996992	B;B	0.25351	0.124;0.041	B;B	0.29663	0.105;0.074	D	0.84341	0.0527	10	0.72032	D	0.01	.	5.5592	0.17133	0.0:0.328:0.1434:0.5286	.	752;752	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	F	749;752;752;752;752	ENSP00000359588:L749F;ENSP00000355165:L752F;ENSP00000332756:L752F;ENSP00000359574:L752F;ENSP00000352715:L752F	ENSP00000332756:L752F	L	-	3	2	ATP11C	138678229	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	0.880000	0.28159	-0.058000	0.13177	0.441000	0.28932	TTA		0.313	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		19	52	0	0	0	0.055883	0	19	52				
LRRN4	164312	broad.mit.edu	37	20	6033166	6033166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:6033166C>T	ENST00000378858.4	-	2	504	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	94					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.E94K(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGGCCGAGCTCGGAAGTGCTC	0.741																																						ENST00000378858.4																			1	Substitution - Missense(1)	p.E94K(1)	lung(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(280-282)Gag>Aag		leucine rich repeat neuronal 4							6.0	9.0	8.0					20																	6033166		2131	4212	6343	SO:0001583	missense	164312					integral to membrane		g.chr20:6033166C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.280G>A	20.37:g.6033166C>T	ENSP00000368135:p.Glu94Lys						p.E94K	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			2	504	-			94					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.280G>A	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337001	0.60963	.	.	ENSG00000125872	ENST00000378858	T	0.04603	3.59	5.37	5.37	0.77165	.	0.588289	0.16361	N	0.217769	T	0.05914	0.0154	L	0.52759	1.655	0.09310	N	0.999996	D;P	0.58970	0.984;0.848	B;B	0.41374	0.355;0.209	T	0.39418	-0.9615	10	0.07813	T	0.8	-12.4928	15.0059	0.71513	0.0:0.8579:0.1421:0.0	.	94;94	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	K	94	ENSP00000368135:E94K	ENSP00000368135:E94K	E	-	1	0	LRRN4	5981166	0.205000	0.23458	0.065000	0.19835	0.002000	0.02628	2.709000	0.47160	2.686000	0.91538	0.561000	0.74099	GAG		0.741	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		3	9	0	0	0	0.115264	0	3	9				
PCM1	5108	broad.mit.edu	37	8	17796415	17796415	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr8:17796415A>G	ENST00000519253.1	+	5	760	c.509A>G	c.(508-510)cAg>cGg	p.Q170R	PCM1_ENST00000325083.8_Missense_Mutation_p.Q170R|PCM1_ENST00000518537.1_Missense_Mutation_p.Q170R|PCM1_ENST00000524226.1_Missense_Mutation_p.Q170R			Q15154	PCM1_HUMAN	pericentriolar material 1	170					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GGATCAGCACAGTGTAAAGAG	0.438			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(508-510)cAg>cGg		pericentriolar material 1							122.0	116.0	118.0					8																	17796415		1902	4122	6024	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17796415A>G		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.509A>G	8.37:g.17796415A>G	ENSP00000431099:p.Gln170Arg					PCM1_ENST00000519253.1_Missense_Mutation_p.Q170R|PCM1_ENST00000518537.1_Missense_Mutation_p.Q170R|PCM1_ENST00000524226.1_Missense_Mutation_p.Q170R	p.Q170R	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	5	948	+			170					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.509A>G		.	.	.	.	.	.	.	.	.	.	A	16.90	3.250210	0.59212	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000523055;ENST00000519253;ENST00000524226	T;T;T;T;T;T	0.23552	3.58;2.71;1.9;1.91;3.58;3.34	5.62	5.62	0.85841	.	0.235880	0.44285	D	0.000478	T	0.30665	0.0772	N	0.19112	0.55	0.80722	D	1	P;D;P;P	0.55172	0.949;0.97;0.949;0.949	P;D;P;P	0.68943	0.677;0.961;0.677;0.677	T	0.06625	-1.0816	10	0.12766	T	0.61	-12.5099	12.0428	0.53462	0.8562:0.1438:0.0:0.0	.	170;170;170;170	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	R	170	ENSP00000327077:Q170R;ENSP00000428131:Q170R;ENSP00000428123:Q170R;ENSP00000429941:Q170R;ENSP00000431099:Q170R;ENSP00000430521:Q170R	ENSP00000327077:Q170R	Q	+	2	0	PCM1	17840695	1.000000	0.71417	0.989000	0.46669	0.581000	0.36288	5.401000	0.66326	2.272000	0.75746	0.460000	0.39030	CAG		0.438	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		5	45	0	0	0	0.021553	0	5	45				
RIN3	79890	broad.mit.edu	37	14	93118181	93118181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr14:93118181C>T	ENST00000216487.7	+	6	946	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	263	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				ACGCCCTTTGCCGCCCACCTC	0.667																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(787-789)Ccg>Tcg		Ras and Rab interactor 3							91.0	89.0	90.0					14																	93118181		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118181C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.787C>T	14.37:g.93118181C>T	ENSP00000216487:p.Pro263Ser					RIN3_ENST00000418924.2_3'UTR	p.P263S	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	946	+		all_cancers(154;0.0701)	263			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.787C>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837328	0.32513	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.05855	3.38	4.93	0.275	0.15659	.	2.105740	0.03206	N	0.175425	T	0.07279	0.0184	L	0.60455	1.87	0.09310	N	0.999995	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.41610	-0.9499	10	0.21014	T	0.42	-1.3037	1.6676	0.02805	0.2414:0.3631:0.2419:0.1537	.	188;263	Q6ZRC2;Q8TB24	.;RIN3_HUMAN	S	263	ENSP00000216487:P263S	ENSP00000216487:P263S	P	+	1	0	RIN3	92187934	0.000000	0.05858	0.004000	0.12327	0.021000	0.10359	-0.353000	0.07691	0.469000	0.27268	0.313000	0.20887	CCG		0.667	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			3	51	0	0	0	0.115264	0	3	51				
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		CTGGGATGTACGTCTGCGTTG	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661272C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661272C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	65	0	0	0	0.014758	0	5	65				
ADRB2	154	broad.mit.edu	37	5	148207421	148207421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr5:148207421C>T	ENST00000305988.4	+	1	1266	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	343					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	TCTGTGCCTGCGCAGGTCTTC	0.493																																						ENST00000305988.4																			0				endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(1027-1029)Cgc>Tgc		adrenoceptor beta 2, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						57.0	58.0	57.0					5																	148207421		2203	4300	6503	SO:0001583	missense	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148207421C>T	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.1027C>T	5.37:g.148207421C>T	ENSP00000305372:p.Arg343Cys						p.R343C	NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1266	+			343					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	c.1027C>T	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538526	0.45176	.	.	ENSG00000169252	ENST00000305988	T	0.37584	1.19	5.68	3.73	0.42828	.	0.180758	0.42548	D	0.000698	T	0.33381	0.0861	L	0.46614	1.455	0.44234	D	0.997074	B	0.23058	0.079	B	0.22152	0.038	T	0.15065	-1.0450	10	0.38643	T	0.18	.	15.4042	0.74866	0.3501:0.6499:0.0:0.0	.	343	P07550	ADRB2_HUMAN	C	343	ENSP00000305372:R343C	ENSP00000305372:R343C	R	+	1	0	ADRB2	148187614	0.991000	0.36638	0.964000	0.40570	0.792000	0.44763	2.698000	0.47068	1.421000	0.47157	-0.226000	0.12346	CGC		0.493	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		6	37	0	0	0	0.021553	0	6	37				
AMER1	139285	broad.mit.edu	37	X	63411822	63411822	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:63411822C>T	ENST00000330258.3	-	2	1617	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T	AMER1_ENST00000403336.1_Missense_Mutation_p.A449T|AMER1_ENST00000374869.3_Missense_Mutation_p.A449T	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	449					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TCCCCAGGGGCTAGGCCAGGA	0.537																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(1345-1347)Gcc>Acc		APC membrane recruitment protein 1							131.0	97.0	108.0					X																	63411822		2203	4300	6503	SO:0001583	missense	139285							g.chrX:63411822C>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1345G>A	X.37:g.63411822C>T	ENSP00000329117:p.Ala449Thr					AMER1_ENST00000403336.1_Missense_Mutation_p.A449T|AMER1_ENST00000374869.3_Missense_Mutation_p.A449T	p.A449T	NM_152424.3	NP_689637.3					2	1617	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.1345G>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.444744	0.01089	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.17528	2.27;2.27;2.27	5.32	2.51	0.30379	.	0.348388	0.26489	N	0.024097	T	0.05914	0.0154	N	0.03608	-0.345	0.09310	N	1	B	0.21905	0.062	B	0.30716	0.119	T	0.41928	-0.9481	10	0.07813	T	0.8	-1.9867	3.8352	0.08891	0.3009:0.4766:0.1423:0.0803	.	449	Q5JTC6	F123B_HUMAN	T	449	ENSP00000364003:A449T;ENSP00000329117:A449T;ENSP00000384722:A449T	ENSP00000329117:A449T	A	-	1	0	FAM123B	63328547	0.000000	0.05858	0.006000	0.13384	0.059000	0.15707	0.014000	0.13333	0.282000	0.22254	-1.058000	0.02302	GCC		0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		25	37	0	0	0	0.083992	0	25	37				
ZNF77	58492	broad.mit.edu	37	19	2933527	2933527	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:2933527G>A	ENST00000314531.4	-	4	1690	c.1598C>T	c.(1597-1599)gCa>gTa	p.A533V		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	533					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(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAAGCGATGCGAGATACCT	0.493																																						ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1597-1599)gCa>gTa		zinc finger protein 77							179.0	138.0	152.0					19																	2933527		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2933527G>A	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1598C>T	19.37:g.2933527G>A	ENSP00000319053:p.Ala533Val						p.A533V	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1690	-			533					Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.1598C>T	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574881	0.28092	.	.	ENSG00000175691	ENST00000314531	T	0.08008	3.14	2.56	-0.0622	0.13781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	L	0.35249	1.045	0.09310	N	1	B	0.27625	0.183	B	0.13407	0.009	T	0.35992	-0.9766	9	0.51188	T	0.08	.	4.5395	0.12050	0.0:0.1975:0.3541:0.4484	.	533	Q15935	ZNF77_HUMAN	V	533	ENSP00000319053:A533V	ENSP00000319053:A533V	A	-	2	0	ZNF77	2884527	0.000000	0.05858	0.000000	0.03702	0.283000	0.27025	-0.345000	0.07770	0.363000	0.24346	0.491000	0.48974	GCA		0.493	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		18	77	0	0	0	0.175082	0	18	77				
RP11-608O21.1	0	broad.mit.edu	37	4	19815894	19815895	+	lincRNA	INS	-	-	A	rs397992461|rs71179253|rs371862528		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr4:19815894_19815895insA	ENST00000511431.1	+	0	288																											CTCTGGGCTGTaaaaaaaaaaa	0.416																																						ENST00000511431.1																			0																																																			0							g.chr4:19815894_19815895insA																													4.37:g.19815905_19815905dupA														0	288	+									RNA	INS	ENST00000511431.1	37																																																																																						0.416	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			4	5						4	5	---	---	---	---
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	IGR	INS	-	-	T	rs17875385		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr6:29694802_29694803insT	ENST00000376861.1	+	0	1544				HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Frame_Shift_Ins_p.F394fs			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535																																						ENST00000259951.7																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1177-1182)ttttttfs		major histocompatibility complex, class I, F				16,3332		2,12,1660						-0.3	0.3		dbSNP_124	229	17,6555		4,9,3273	no	frameshift	HLA-F	NM_001098479.1		6,21,4933	A1A1,A1R,RR		0.2587,0.4779,0.3327				33,9887				SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694802_29694803insT	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694810_29694810dupT						HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron	p.FF393fs	NM_001098479.1	NP_001091949.1	P30511	HLAF_HUMAN			7	1235_1236	+			0					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Frame_Shift_Ins	INS	ENST00000376861.1	37	c.1179_1180insT	CCDS43438.1																																																																																				0.535	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		7	298						7	298	---	---	---	---
AC073343.1	0	broad.mit.edu	37	7	6715701	6715701	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr7:6715701delG	ENST00000399484.3	+	11	850	c.850delG	c.(850-852)gggfs	p.G284fs	AC073343.13_ENST00000366167.2_RNA|AC073343.1_ENST00000328239.7_Frame_Shift_Del_p.G108fs|AC073343.1_ENST00000542006.1_Frame_Shift_Del_p.G135fs|AC073343.13_ENST00000430844.1_RNA|AC073343.1_ENST00000544825.1_Frame_Shift_Del_p.G295fs|AC073343.1_ENST00000401847.1_Frame_Shift_Del_p.G294fs																breast(1)	1						GACACACCCAGGGGAGATACC	0.418																																						ENST00000544825.1																			0				breast(1)	1						c.(883-885)ggfs																																						SO:0001589	frameshift_variant	0							g.chr7:6715701delG																												ENST00000399484.3:c.850delG	7.37:g.6715701delG	ENSP00000407971:p.Gly284fs					AC073343.13_ENST00000366167.2_RNA|AC073343.1_ENST00000399484.3_Frame_Shift_Del_p.284fs|AC073343.1_ENST00000401847.1_Frame_Shift_Del_p.294fs|AC073343.1_ENST00000542006.1_Frame_Shift_Del_p.135fs|AC073343.1_ENST00000328239.7_Frame_Shift_Del_p.108fs	p.295fs							10	883	+									Frame_Shift_Del	DEL	ENST00000399484.3	37	c.883delG																																																																																					0.418	AC073343.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				2	4						2	4	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120784021	120784021	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr12:120784021delC	ENST00000257552.2	-	13	1052	c.964delG	c.(964-966)gcgfs	p.A323fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	323					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTTGGCCGCCCCGTAGAGC	0.706																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(964-966)cgfs		musashi RNA-binding protein 1							8.0	11.0	10.0					12																	120784021		2187	4271	6458	SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120784021delC	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.964delG	12.37:g.120784021delC	ENSP00000257552:p.Ala323fs						p.A323fs	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			13	1052	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		323					Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Del	DEL	ENST00000257552.2	37	c.964delG	CCDS9196.1																																																																																				0.706	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		2	4						2	4	---	---	---	---
FASN	2194	broad.mit.edu	37	17	80043423	80043423	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:80043423delG	ENST00000306749.2	-	23	4275	c.4057delC	c.(4057-4059)ctcfs	p.L1353fs	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1353				LGDI -> SGH (in Ref. 2; AAA73576). {ECO:0000305}.	acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	ATGTCCCCGAGGGGGTGCCCC	0.706																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(4057-4059)tcfs		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						15.0	18.0	17.0					17																	80043423		2178	4289	6467	SO:0001589	frameshift_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80043423delG	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4057delC	17.37:g.80043423delG	ENSP00000304592:p.Leu1353fs						p.L1353fs	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		23	4275	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1353	LGDI -> SGH (in Ref. 2; AAA73576).				Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	ENST00000306749.2	37	c.4057delC	CCDS11801.1																																																																																				0.706	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76940443	76940447	+	Frame_Shift_Del	DEL	TCCAT	TCCAT	-	rs45572441	byFrequency	TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:76940443_76940447delTCCAT	ENST00000373344.5	-	8	860_864	c.646_650delATGGA	c.(646-651)atggatfs	p.MD216fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.MD178fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	216	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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						ACATTGTTCATCCATTCCATCTGAG	0.317			"""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.(646-651)tfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_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:76940443_76940447delTCCAT	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.646_650delATGGA	X.37:g.76940448_76940452delTCCAT	ENSP00000362441:p.Met216fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.MD178fs	p.MD216fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			8	860_864	-			216			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.646_650delATGGA	CCDS14434.1																																																																																				0.317	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		36	74						36	74	---	---	---	---
