#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
MT-ND4	4538	broad.mit.edu	37	M	11825	11825	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrM:11825G>A	ENST00000361381.2	+	1	1066	c.1066G>A	c.(1066-1068)Gct>Act	p.A356T	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	356					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TCCCACTAATAGCTTTTTGAT	0.458																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(1066-1068)Gct>Act		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:11825G>A			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.1066G>A	M.37:g.11825G>A	ENSP00000354961:p.Ala356Thr						p.356_356insT							1	1066	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.1066G>A																																																																																					0.458	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		9	55	0	0	0	1	0	9	55				
CNTN2	6900	broad.mit.edu	37	1	205031674	205031674	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:205031674C>T	ENST00000331830.4	+	10	1501	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	406	Ig-like C2-type 4.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCATCTACGCCAGCGCCGAG	0.582																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(1216-1218)gCc>gTc		contactin 2 (axonal)							71.0	57.0	62.0					1																	205031674		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205031674C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1217C>T	1.37:g.205031674C>T	ENSP00000330633:p.Ala406Val						p.A406V	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		10	1501	+	all_cancers(21;0.144)|Breast(84;0.0437)		406			Ig-like C2-type 4.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.1217C>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955140	0.92726	.	.	ENSG00000184144	ENST00000331830	T	0.69040	-0.37	5.5	4.59	0.56863	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000112	T	0.75332	0.3835	M	0.69358	2.11	0.46458	D	0.999053	P;D	0.61080	0.954;0.989	P;P	0.55999	0.691;0.789	T	0.78732	-0.2089	10	0.87932	D	0	.	13.6914	0.62549	0.0:0.9248:0.0:0.0752	.	406;297	Q02246;Q68DA2	CNTN2_HUMAN;.	V	406	ENSP00000330633:A406V	ENSP00000330633:A406V	A	+	2	0	CNTN2	203298297	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	7.285000	0.78660	1.317000	0.45149	0.650000	0.86243	GCC		0.582	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		42	39	0	0	0	1	0	42	39				
CHRM2	1129	broad.mit.edu	37	7	136699812	136699812	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:136699812G>C	ENST00000445907.2	+	3	728	c.200G>C	c.(199-201)tGt>tCt	p.C67S	hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.C67S|CHRM2_ENST00000401861.1_Missense_Mutation_p.C67S|CHRM2_ENST00000453373.1_Missense_Mutation_p.C67S|CHRM2_ENST00000320658.5_Missense_Mutation_p.C67S|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.C67S|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	67					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AGCTTGGCCTGTGCTGACCTT	0.458																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(199-201)tGt>tCt		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						226.0	191.0	203.0					7																	136699812		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136699812G>C		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.200G>C	7.37:g.136699812G>C	ENSP00000399745:p.Cys67Ser					AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.C67S|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.C67S|CHRM2_ENST00000397608.3_Missense_Mutation_p.C67S|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.C67S|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.C67S|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA	p.C67S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	728	+			67					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.200G>C	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730030	0.69074	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	M	0.70108	2.13	0.80722	D	1	D	0.55800	0.973	P	0.60117	0.869	T	0.22382	-1.0218	10	0.42905	T	0.14	-6.8671	19.2407	0.93881	0.0:0.0:1.0:0.0	.	67	P08172	ACM2_HUMAN	S	67	ENSP00000399745:C67S;ENSP00000415386:C67S;ENSP00000319984:C67S;ENSP00000380733:C67S;ENSP00000384937:C67S;ENSP00000384401:C67S	ENSP00000319984:C67S	C	+	2	0	CHRM2	136350352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.764000	0.85297	2.546000	0.85860	0.644000	0.83932	TGT		0.458	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			15	184	0	0	0	1	0	15	184				
SLC6A10P	386757	broad.mit.edu	37	16	32890604	32890604	+	RNA	SNP	C	C	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr16:32890604C>G	ENST00000330048.5	-	0	3194					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CACCCCACCACGGGTACACGT	0.597																																						ENST00000330048.5																			0																																																			0							g.chr16:32890604C>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890604C>G								NR_003083.2						0	3194	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.597	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			8	4	0	0	0	1	0	8	4				
MIR521-2	574481	broad.mit.edu	37	19	54219926	54219926	+	RNA	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:54219926C>T	ENST00000384818.1	+	0	79				RNU6-803P_ENST00000516034.1_RNA	NR_030203.1				microRNA 521-2																		AGAGTGTTACCGTGTGAGAAA	0.428																																						ENST00000384818.1																			0																				111.0	110.0	110.0					19																	54219926		1568	3582	5150			0							g.chr19:54219926C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207549	ENSG00000207549		"""ncRNAs / Micro RNAs"""	32113	non-coding RNA	RNA, micro				MIRN521-2			Standard	NR_030203		Approved	hsa-mir-521-2	uc021vag.1				19.37:g.54219926C>T								NR_030203.1						0	79	+									RNA	SNP	ENST00000384818.1	37																																																																																						0.428	MIR521-2-201	KNOWN	basic	miRNA	miRNA		NR_030203		50	58	0	0	0	1	0	50	58				
SBF1	6305	broad.mit.edu	37	22	50898502	50898502	+	Missense_Mutation	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr22:50898502T>C	ENST00000390679.3	-	26	3554	c.3370A>G	c.(3370-3372)Agg>Ggg	p.R1124G	SBF1_ENST00000348911.6_Missense_Mutation_p.R1125G|SBF1_ENST00000380817.3_Missense_Mutation_p.R1124G|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1124	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCAAGCCCTTTCCACCAGG	0.672																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3370-3372)Agg>Ggg		SET binding factor 1							43.0	51.0	48.0					22																	50898502		2202	4297	6499	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50898502T>C	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3370A>G	22.37:g.50898502T>C	ENSP00000375097:p.Arg1124Gly					SBF1_ENST00000390679.3_Missense_Mutation_p.R1124G|SBF1_ENST00000348911.6_Missense_Mutation_p.R1125G	p.R1124G	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	26	3553	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1124			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.3370A>G		.	.	.	.	.	.	.	.	.	.	T	24.6	4.554418	0.86231	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	T;T;T	0.11063	2.81;2.81;2.81	4.28	3.26	0.37387	Myotubularin phosphatase domain (1);	0.000000	0.64402	D	0.000001	T	0.32882	0.0844	M	0.79926	2.475	0.80722	D	1	P;D	0.67145	0.82;0.996	P;D	0.77557	0.65;0.99	T	0.14448	-1.0472	10	0.87932	D	0	.	12.4296	0.55567	0.0:0.0:0.8099:0.1901	.	1124;1124	O95248;O95248-4	MTMR5_HUMAN;.	G	1124;1125;1134;1124	ENSP00000370196:R1124G;ENSP00000252027:R1125G;ENSP00000375097:R1124G	ENSP00000336522:R1134G	R	-	1	2	SBF1	49245368	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.372000	0.59530	0.943000	0.37553	0.459000	0.35465	AGG		0.672	SBF1-201	KNOWN	basic	protein_coding	protein_coding				55	5	0	0	0	1	0	55	5				
GABRA1	2554	broad.mit.edu	37	5	161277800	161277800	+	Splice_Site	SNP	A	A	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:161277800A>T	ENST00000428797.2	+	3	340		c.e3-1		GABRA1_ENST00000437025.2_Splice_Site|GABRA1_ENST00000023897.6_Splice_Site|GABRA1_ENST00000420560.1_Splice_Site|GABRA1_ENST00000444819.1_Splice_Site|GABRA1_ENST00000393943.4_Splice_Site	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTACTTTTCAGCTGCTCCAG	0.488																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.e3-1		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						95.0	92.0	93.0					5																	161277800		2203	4300	6503	SO:0001630	splice_region_variant	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161277800A>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.-15-1A>T	5.37:g.161277800A>T						GABRA1_ENST00000420560.1_Splice_Site|GABRA1_ENST00000393943.4_Splice_Site|GABRA1_ENST00000444819.1_Splice_Site|GABRA1_ENST00000437025.2_Splice_Site|GABRA1_ENST00000023897.6_Splice_Site		NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	3	340	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)						D3DQK6|Q8N629	Splice_Site	SNP	ENST00000428797.2	37		CCDS4357.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154409	0.57259	.	.	ENSG00000022355	ENST00000521339	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0345	0.64636	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GABRA1	161210378	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.293000	0.59037	2.063000	0.61619	0.528000	0.53228	.		0.488	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	Intron	11	46	0	0	0	1	0	11	46				
SDHAP1	255812	broad.mit.edu	37	3	195701285	195701285	+	RNA	SNP	G	G	T	rs201085786	byFrequency	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr3:195701285G>T	ENST00000427841.1	-	0	1539					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GCACGACTCTGCGATGCTCAG	0.537																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195701285G>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701285G>T								NR_003264.2						0	1539	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.537	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	55	1	0	3.59834e-05	1	3.86821e-05	4	55				
UPF3B	65109	broad.mit.edu	37	X	118971901	118971901	+	Missense_Mutation	SNP	C	C	T	rs143538947	byFrequency	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:118971901C>T	ENST00000276201.2	-	10	1190	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	UPF3B_ENST00000345865.2_Missense_Mutation_p.R361H|UPF3B_ENST00000478840.1_5'Flank	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	374	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CTTCTGCCTACGGCGCTCTTC	0.463													C|||	8	0.00211921	0.0061	0.0	3775	,	,		14188	0.0		0.0	False		,,,				2504	0.0					ENST00000276201.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						c.(1120-1122)cGt>cAt		UPF3 regulator of nonsense transcripts homolog B (yeast)		C	HIS/ARG,HIS/ARG	22,3813		0,18,4,1614,567	142.0	120.0	128.0		1082,1121	5.0	0.7	X	dbSNP_134	128	0,6728		0,0,0,2428,1872	yes	missense,missense	UPF3B	NM_023010.3,NM_080632.2	29,29	0,18,4,4042,2439	TT,TC,T,CC,C		0.0,0.5737,0.2083	probably-damaging,probably-damaging	361/471,374/484	118971901	22,10541	2203	4300	6503	SO:0001583	missense	0				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118971901C>T	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1121G>A	X.37:g.118971901C>T	ENSP00000276201:p.Arg374His					UPF3B_ENST00000345865.2_Missense_Mutation_p.R361H	p.R374H	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN			10	1190	-			374			Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.1121G>A	CCDS14588.1	2	0.0012055455093429777	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	22.0	4.233980	0.79688	0.005737	0.0	ENSG00000125351	ENST00000276201;ENST00000345865	D;T	0.82526	-1.62;-1.41	5.83	4.97	0.65823	.	0.048787	0.85682	D	0.000000	D	0.83769	0.5326	L	0.46157	1.445	0.45995	D	0.998809	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.94	D	0.86335	0.1701	10	0.87932	D	0	.	12.9013	0.58126	0.0:0.921:0.0:0.079	.	361;374	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	H	374;361	ENSP00000276201:R374H;ENSP00000245418:R361H	ENSP00000276201:R374H	R	-	2	0	UPF3B	118855929	1.000000	0.71417	0.671000	0.29857	0.955000	0.61496	6.988000	0.76212	1.234000	0.43709	0.526000	0.51066	CGT		0.463	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			4	141	0	0	0	1	0	4	141				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	60	0	0	0	1	0	5	60				
IGHA1	3493	broad.mit.edu	37	14	106174357	106174357	+	RNA	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:106174357G>T	ENST00000390547.2	-	0	431							P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										TGCACGTGAGGTTCGCTTCTG	0.617																																						ENST00000390547.2																			0																				44.0	50.0	48.0					14																	106174357		2135	4229	6364			0							g.chr14:106174357G>T	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106174357G>T														0	431	-									RNA	SNP	ENST00000390547.2	37																																																																																						0.617	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		9	11	1	0	2.17888e-05	1	2.37194e-05	9	11				
PTEN	5728	broad.mit.edu	37	10	89624275	89624275	+	Nonsense_Mutation	SNP	C	C	T	rs587781912		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr10:89624275C>T	ENST00000371953.3	+	1	1406	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	17	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.Q17*(5)|p.Q17del(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.Y16fs*21(1)|p.N12fs*6(1)|p.R14_D22del(1)|p.Y16fs*1(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGGAGATATCAAGAGGATGG	0.478		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		63	Whole gene deletion(37)|Unknown(13)|Substitution - Nonsense(5)|Deletion - Frameshift(5)|Deletion - In frame(3)	p.0?(37)|p.?(13)|p.Q17*(5)|p.Q17del(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.Y16fs*21(1)|p.N12fs*6(1)|p.R14_D22del(1)|p.Y16fs*1(1)	prostate(14)|central_nervous_system(13)|endometrium(7)|skin(7)|lung(6)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|breast(3)|bone(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(49-51)Caa>Taa		phosphatase and tensin homolog							183.0	175.0	178.0					10																	89624275		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89624275C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.49C>T	10.37:g.89624275C>T	ENSP00000361021:p.Gln17*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Q17*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	1	1406	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	17			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.49C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	49	15.443228	0.99834	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.05	5.05	0.67936	.	0.062767	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7659	17.1609	0.86803	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	.	Q	+	1	0	PTEN	89614255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.015000	0.76387	2.335000	0.79485	0.561000	0.74099	CAA		0.478	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		50	60	0	0	0	1	0	50	60				
FAM26E	254228	broad.mit.edu	37	6	116833169	116833169	+	Missense_Mutation	SNP	A	A	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:116833169A>T	ENST00000368599.3	+	1	361	c.310A>T	c.(310-312)Act>Tct	p.T104S	TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	104					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		CGGCCAGATCACTCTGAGCTC	0.522																																						ENST00000368599.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(310-312)Act>Tct		family with sequence similarity 26, member E							61.0	59.0	60.0					6																	116833169		2203	4300	6503	SO:0001583	missense	254228					integral to membrane		g.chr6:116833169A>T	BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 188"""	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.310A>T	6.37:g.116833169A>T	ENSP00000357588:p.Thr104Ser					TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	p.T104S	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)	1	361	+		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)	104					B2RDJ9|B3KSR3	Missense_Mutation	SNP	ENST00000368599.3	37	c.310A>T	CCDS5108.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692331	0.30052	.	.	ENSG00000178033	ENST00000368599	T	0.18174	2.23	5.5	5.5	0.81552	.	0.316121	0.40302	N	0.001127	T	0.07593	0.0191	L	0.46157	1.445	0.33270	D	0.560941	B	0.23185	0.081	B	0.21360	0.034	T	0.16129	-1.0413	10	0.20519	T	0.43	-9.2385	15.0758	0.72077	1.0:0.0:0.0:0.0	.	104	Q8N5C1	FA26E_HUMAN	S	104	ENSP00000357588:T104S	ENSP00000357588:T104S	T	+	1	0	FAM26E	116939862	0.995000	0.38212	1.000000	0.80357	0.928000	0.56348	2.841000	0.48223	2.211000	0.71520	0.459000	0.35465	ACT		0.522	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711		17	47	0	0	0	1	0	17	47				
EBF2	64641	broad.mit.edu	37	8	25720242	25720242	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:25720242G>T	ENST00000520164.1	-	11	1618	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	EBF2_ENST00000535548.1_Missense_Mutation_p.P92T|EBF2_ENST00000408929.3_Missense_Mutation_p.P213T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	361					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AATCTCTCAGGATCTCCAGGA	0.418																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1081-1083)Cct>Act		early B-cell factor 2							139.0	134.0	135.0					8																	25720242		1875	4112	5987	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25720242G>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1081C>A	8.37:g.25720242G>T	ENSP00000430241:p.Pro361Thr					EBF2_ENST00000535548.1_Missense_Mutation_p.P92T|EBF2_ENST00000408929.3_Missense_Mutation_p.P213T	p.P361T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	11	1618	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	361					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.1081C>A	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146533	0.77888	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.43688	0.94;0.94;0.94	5.8	5.8	0.92144	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.87900	2.915	0.80722	D	1	D	0.62365	0.991	P	0.57152	0.814	T	0.71768	-0.4493	10	0.62326	D	0.03	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	361	Q9HAK2	COE2_HUMAN	T	361;213;92	ENSP00000430241:P361T;ENSP00000386178:P213T;ENSP00000437909:P92T	ENSP00000386178:P213T	P	-	1	0	EBF2	25776159	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	9.869000	0.99810	2.744000	0.94065	0.655000	0.94253	CCT		0.418	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		10	67	1	0	0.000442599	1	0.000458597	10	67				
DOCK2	1794	broad.mit.edu	37	5	169267840	169267840	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:169267840G>A	ENST00000256935.8	+	27	2863	c.2783G>A	c.(2782-2784)cGg>cAg	p.R928Q	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R420Q|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	928					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCATGGGCCGGGATCACATT	0.453																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(2782-2784)cGg>cAg		dedicator of cytokinesis 2							124.0	107.0	113.0					5																	169267840		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169267840G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2783G>A	5.37:g.169267840G>A	ENSP00000256935:p.Arg928Gln					DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R420Q	p.R928Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		27	2863	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	928					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2783G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350030	0.82132	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T	0.68331	-0.32;-0.32	5.28	5.28	0.74379	.	0.120890	0.56097	D	0.000022	T	0.65481	0.2695	M	0.71036	2.16	0.80722	D	1	P;P	0.52061	0.95;0.67	B;B	0.40864	0.342;0.098	T	0.67597	-0.5630	10	0.30854	T	0.27	.	15.8081	0.78531	0.0:0.0:1.0:0.0	.	420;928	E7ERW7;Q92608	.;DOCK2_HUMAN	Q	928;309;420;132	ENSP00000256935:R928Q;ENSP00000429283:R420Q	ENSP00000256935:R928Q	R	+	2	0	DOCK2	169200418	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	6.268000	0.72552	2.460000	0.83146	0.585000	0.79938	CGG		0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		6	22	0	0	0	1	0	6	22				
FLNA	2316	broad.mit.edu	37	X	153588159	153588159	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:153588159G>T	ENST00000369850.3	-	23	4156	c.3920C>A	c.(3919-3921)aCc>aAc	p.T1307N	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.T1307N|FLNA_ENST00000422373.1_Missense_Mutation_p.T1307N|FLNA_ENST00000344736.4_Missense_Mutation_p.T1307N	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1307					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGAACGTAGGTCTCCGTCAG	0.652																																						ENST00000422373.1																			0				breast(6)	6						c.(3919-3921)aCc>aAc		filamin A, alpha							58.0	60.0	59.0					X																	153588159		2132	4226	6358	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588159G>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3920C>A	X.37:g.153588159G>T	ENSP00000358866:p.Thr1307Asn					FLNA_ENST00000360319.4_Missense_Mutation_p.T1307N|FLNA_ENST00000369850.3_Missense_Mutation_p.T1307N|FLNA_ENST00000344736.4_Missense_Mutation_p.T1307N	p.T1307N	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			23	4168	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1307					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3920C>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347660	0.24426	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.26	5.26	0.73747	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.137795	0.48286	D	0.000197	T	0.77935	0.4205	L	0.27053	0.805	0.80722	D	1	B;B	0.15930	0.015;0.008	B;B	0.19666	0.026;0.026	T	0.74031	-0.3795	10	0.48119	T	0.1	.	13.7647	0.62988	0.0:0.2092:0.7908:0.0	.	1307;1307	P21333-2;P21333	.;FLNA_HUMAN	N	1307;1280;1307;1307;1307	ENSP00000353467:T1307N;ENSP00000416926:T1307N;ENSP00000358866:T1307N;ENSP00000358863:T1307N	ENSP00000358863:T1307N	T	-	2	0	FLNA	153241353	0.003000	0.15002	0.974000	0.42286	0.199000	0.23934	1.301000	0.33447	2.192000	0.70111	0.600000	0.82982	ACC		0.652	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			25	101	1	0	2.79863e-10	1	3.16687e-10	25	101				
MGAM	8972	broad.mit.edu	37	7	141765178	141765178	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:141765178C>T	ENST00000549489.2	+	38	4623	c.4528C>T	c.(4528-4530)Cgc>Tgc	p.R1510C	MGAM_ENST00000475668.2_Missense_Mutation_p.R1510C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1510	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGTCATCACCCGCTCCACATT	0.592																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4528-4530)Cgc>Tgc		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						51.0	55.0	54.0					7																	141765178		2039	4180	6219	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141765178C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4528C>T	7.37:g.141765178C>T	ENSP00000447378:p.Arg1510Cys					MGAM_ENST00000549489.2_Missense_Mutation_p.R1510C	p.R1510C			O43451	MGA_HUMAN			38	4582	+	Melanoma(164;0.0272)		1510			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.4528C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508475	0.64410	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.97066	-4.23	3.97	3.08	0.35506	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.99152	0.9707	H	0.99789	4.78	0.49687	D	0.999811	D	0.89917	1.0	D	0.97110	1.0	D	0.97724	1.0198	9	0.87932	D	0	.	10.3913	0.44171	0.0:0.8989:0.0:0.1011	.	1510	O43451	MGA_HUMAN	C	1510;1510;1387	ENSP00000447378:R1510C	ENSP00000316431:R1387C	R	+	1	0	MGAM	141411647	0.998000	0.40836	0.995000	0.50966	0.928000	0.56348	3.798000	0.55522	0.644000	0.30656	0.306000	0.20318	CGC		0.592	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			3	33	0	0	0	1	0	3	33				
FAT2	2196	broad.mit.edu	37	5	150923476	150923476	+	Missense_Mutation	SNP	A	A	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:150923476A>C	ENST00000261800.5	-	9	7224	c.7212T>G	c.(7210-7212)atT>atG	p.I2404M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2404	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCAGGGTCAATAGCCTGGA	0.473																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(7210-7212)atT>atG		FAT atypical cadherin 2							61.0	55.0	57.0					5																	150923476		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150923476A>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7212T>G	5.37:g.150923476A>C	ENSP00000261800:p.Ile2404Met						p.I2404M	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	7224	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2404			Cadherin 21.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.7212T>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	4.681	0.126675	0.08931	.	.	ENSG00000086570	ENST00000261800	T	0.52983	0.64	5.58	-6.2	0.02072	Cadherin (4);Cadherin-like (1);	0.448291	0.21108	N	0.080024	T	0.28400	0.0702	L	0.40543	1.245	0.19575	N	0.999961	B	0.25904	0.137	B	0.29716	0.106	T	0.14420	-1.0473	10	0.34782	T	0.22	.	4.7101	0.12868	0.2654:0.4594:0.1901:0.0851	.	2404	Q9NYQ8	FAT2_HUMAN	M	2404	ENSP00000261800:I2404M	ENSP00000261800:I2404M	I	-	3	3	FAT2	150903669	0.877000	0.30153	0.564000	0.28396	0.850000	0.48378	-0.059000	0.11731	-0.541000	0.06257	0.459000	0.35465	ATT		0.473	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		8	42	0	0	0	1	0	8	42				
MAP2	4133	broad.mit.edu	37	2	210559085	210559085	+	Missense_Mutation	SNP	A	A	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr2:210559085A>G	ENST00000360351.4	+	7	2697	c.2191A>G	c.(2191-2193)Att>Gtt	p.I731V	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I727V|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	731					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GGCTTCCGATATTCTAACCAA	0.468																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2191-2193)Att>Gtt		microtubule-associated protein 2	Estramustine(DB01196)						140.0	136.0	137.0					2																	210559085		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559085A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2191A>G	2.37:g.210559085A>G	ENSP00000353508:p.Ile731Val					MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I727V|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	p.I731V	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2697	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	731					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2191A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881805	0.72294	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.21543	2.0;2.0	5.96	5.96	0.96718	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000005	T	0.44371	0.1290	M	0.63843	1.955	0.58432	D	0.999991	D;D	0.71674	0.994;0.998	D;D	0.67548	0.919;0.952	T	0.35325	-0.9793	10	0.87932	D	0	-16.9319	16.4343	0.83869	1.0:0.0:0.0:0.0	.	727;731	P11137-3;P11137	.;MAP2_HUMAN	V	731;727	ENSP00000353508:I731V;ENSP00000392164:I727V	ENSP00000353508:I731V	I	+	1	0	MAP2	210267330	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.858000	0.75461	2.285000	0.76669	0.528000	0.53228	ATT		0.468	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		36	143	0	0	0	1	0	36	143				
FBN3	84467	broad.mit.edu	37	19	8196507	8196507	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:8196507C>T	ENST00000600128.1	-	15	2335	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	FBN3_ENST00000270509.2_Missense_Mutation_p.E641K|FBN3_ENST00000601739.1_Missense_Mutation_p.E641K			Q75N90	FBN3_HUMAN	fibrillin 3	641	TB 3.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGCAGCACTCGGACTTGGTG	0.667																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1921-1923)Gag>Aag		fibrillin 3							58.0	59.0	58.0					19																	8196507		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8196507C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1921G>A	19.37:g.8196507C>T	ENSP00000470498:p.Glu641Lys					FBN3_ENST00000601739.1_Missense_Mutation_p.E641K|FBN3_ENST00000270509.2_Missense_Mutation_p.E641K	p.E641K			Q75N90	FBN3_HUMAN			15	2335	-			641			TB 3.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1921G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	15.70	2.911595	0.52439	.	.	ENSG00000142449	ENST00000270509	D	0.94046	-3.34	3.02	3.02	0.34903	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	U	0.000000	D	0.94192	0.8136	M	0.77616	2.38	0.47065	D	0.9993	D	0.63880	0.993	P	0.54210	0.745	D	0.92511	0.6016	10	0.14656	T	0.56	.	13.9673	0.64216	0.0:1.0:0.0:0.0	.	641	Q75N90	FBN3_HUMAN	K	641	ENSP00000270509:E641K	ENSP00000270509:E641K	E	-	1	0	FBN3	8102507	1.000000	0.71417	0.916000	0.36221	0.038000	0.13279	4.871000	0.63042	1.227000	0.43598	0.185000	0.17295	GAG		0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		40	45	0	0	0	1	0	40	45				
XPO6	23214	broad.mit.edu	37	16	28118920	28118920	+	Missense_Mutation	SNP	C	C	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr16:28118920C>G	ENST00000304658.5	-	18	2920	c.2420G>C	c.(2419-2421)cGa>cCa	p.R807P	XPO6_ENST00000565698.1_Missense_Mutation_p.R793P	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	807					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GCAAATCTGTCGAGACTTGGT	0.512																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2419-2421)cGa>cCa		exportin 6							92.0	94.0	93.0					16																	28118920		1872	4118	5990	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28118920C>G	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2420G>C	16.37:g.28118920C>G	ENSP00000302790:p.Arg807Pro					XPO6_ENST00000565698.1_Missense_Mutation_p.R793P	p.R807P	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			18	2920	-			807					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.2420G>C	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926952	0.92319	.	.	ENSG00000169180	ENST00000304658	T	0.55588	0.51	5.51	4.54	0.55810	Armadillo-like helical (1);Armadillo-type fold (1);	0.062472	0.64402	D	0.000003	T	0.65893	0.2735	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.995	D;P	0.64506	0.926;0.795	T	0.67688	-0.5606	10	0.54805	T	0.06	-8.2344	13.2676	0.60144	0.16:0.84:0.0:0.0	.	807;807	B7ZM10;Q96QU8	.;XPO6_HUMAN	P	807	ENSP00000302790:R807P	ENSP00000302790:R807P	R	-	2	0	XPO6	28026421	1.000000	0.71417	0.907000	0.35723	0.997000	0.91878	6.048000	0.71046	1.287000	0.44583	0.655000	0.94253	CGA		0.512	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		17	86	0	0	0	1	0	17	86				
CACNA1A	773	broad.mit.edu	37	19	13409679	13409679	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:13409679C>T	ENST00000360228.5	-	19	2767	c.2768G>A	c.(2767-2769)gGc>gAc	p.G923D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G924D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	924					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCGGCCTTGCCTCGCTCGGC	0.771																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(2767-2769)gGc>gAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						7.0	8.0	8.0					19																	13409679		1748	3761	5509	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13409679C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2768G>A	19.37:g.13409679C>T	ENSP00000353362:p.Gly923Asp					CACNA1A_ENST00000573710.2_Missense_Mutation_p.G924D	p.G923D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	2767	-			924					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2768G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	2.151	-0.394585	0.04899	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95482	-3.72	3.79	-3.19	0.05171	.	6.335020	0.00424	N	0.000070	D	0.87931	0.6302	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17038	0.02;0.002;0.02	B;B;B	0.19148	0.016;0.003;0.024	T	0.81433	-0.0935	10	0.13108	T	0.6	.	4.7362	0.12989	0.1151:0.3606:0.4242:0.1002	.	924;927;923	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	D	923;927;924;924	ENSP00000353362:G923D	ENSP00000317661:G924D	G	-	2	0	CACNA1A	13270679	0.006000	0.16342	0.551000	0.28230	0.114000	0.19823	-0.525000	0.06214	-0.232000	0.09811	0.462000	0.41574	GGC		0.771	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		10	5	0	0	0	1	0	10	5				
PPP2R1A	5518	broad.mit.edu	37	19	52716084	52716084	+	Missense_Mutation	SNP	C	C	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:52716084C>A	ENST00000322088.6	+	5	707	c.649C>A	c.(649-651)Cag>Aag	p.Q217K	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q162K|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q38K	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	217	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCTGACGAGCAGGTGAGTTT	0.597			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(649-651)Cag>Aag		protein phosphatase 2, regulatory subunit A, alpha							156.0	125.0	135.0					19																	52716084		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52716084C>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.649C>A	19.37:g.52716084C>A	ENSP00000324804:p.Gln217Lys					PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q162K|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q38K	p.Q217K	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	707	+			217			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.649C>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534224	0.85812	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16196	2.36;2.36	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.56097	D	0.000027	T	0.51584	0.1683	M	0.93808	3.46	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.991	D;P;P	0.73380	0.98;0.562;0.562	T	0.65319	-0.6197	10	0.87932	D	0	-29.688	15.1189	0.72426	0.0:1.0:0.0:0.0	.	162;217;217	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	K	207;137;217;162	ENSP00000324804:Q217K;ENSP00000415067:Q162K	ENSP00000324804:Q217K	Q	+	1	0	PPP2R1A	57407896	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.689000	0.74562	2.503000	0.84419	0.655000	0.94253	CAG		0.597	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		81	91	1	0	5.41189e-41	1	6.46421e-41	81	91				
TP53	7157	broad.mit.edu	37	17	7577557	7577557	+	Missense_Mutation	SNP	A	A	T	rs397516437		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:7577557A>T	ENST00000269305.4	-	7	913	c.724T>A	c.(724-726)Tgc>Agc	p.C242S	TP53_ENST00000413465.2_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S|TP53_ENST00000445888.2_Missense_Mutation_p.C242S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C242S|TP53_ENST00000455263.2_Missense_Mutation_p.C242S	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	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	CCGCCCATGCAGGAACTGTTA	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		55	Substitution - Missense(24)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	breast(8)|large_intestine(7)|biliary_tract(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|ovary(3)|pancreas(3)|prostate(3)|stomach(2)|oesophagus(2)|lung(2)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(724-726)Tgc>Agc	Other conserved DNA damage response genes	tumor protein p53							138.0	106.0	117.0					17																	7577557		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.chr17:7577557A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.724T>A	17.37:g.7577557A>T	ENSP00000269305:p.Cys242Ser	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_ENST00000455263.2_Missense_Mutation_p.C242S|TP53_ENST00000413465.2_Missense_Mutation_p.C242S|TP53_ENST00000269305.4_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S|TP53_ENST00000445888.2_Missense_Mutation_p.C242S	p.C242S	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)	7	856	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	242		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.724T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.639501	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99914	-7.98;-7.98;-7.98;-7.98;-7.98;-7.98;-7.98;-7.98	4.62	4.62	0.57501	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	0.99924	0.9965	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999	D	0.95737	0.8780	10	0.87932	D	0	-27.558	12.3101	0.54924	1.0:0.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242S;ENSP00000352610:C242S;ENSP00000269305:C242S;ENSP00000398846:C242S;ENSP00000391127:C242S;ENSP00000391478:C242S;ENSP00000425104:C110S;ENSP00000423862:C149S	ENSP00000269305:C242S	C	-	1	0	TP53	7518282	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	TGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	2	0	0	0	1	0	33	2				
KIAA1244	57221	broad.mit.edu	37	6	138483289	138483289	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:138483289G>T	ENST00000251691.4	+	1	232	c.66G>T	c.(64-66)gaG>gaT	p.E22D		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCATCAAGGAGAGCTGCACCT	0.701																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(64-66)gaG>gaT		KIAA1244							39.0	49.0	46.0					6																	138483289		1931	4137	6068	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138483289G>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.66G>T	6.37:g.138483289G>T	ENSP00000251691:p.Glu22Asp						p.E22D	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	1	232	+	Breast(32;0.135)		22						Missense_Mutation	SNP	ENST00000251691.4	37	c.66G>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639418	0.29157	.	.	ENSG00000112379	ENST00000251691	T	0.17854	2.25	4.29	4.29	0.51040	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	0.36539	D	0.871188	B	0.06786	0.001	B	0.04013	0.001	T	0.34725	-0.9817	9	0.09338	T	0.73	-15.3812	11.0441	0.47849	0.0:0.0:0.8142:0.1858	.	22	Q5TH69	BIG3_HUMAN	D	22	ENSP00000251691:E22D	ENSP00000251691:E22D	E	+	3	2	KIAA1244	138524982	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.879000	0.39618	1.937000	0.56155	0.455000	0.32223	GAG		0.701	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		23	14	1	0	2.44723e-14	1	2.88304e-14	23	14				
ZNF252P	286101	broad.mit.edu	37	8	146220662	146220662	+	RNA	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:146220662G>T	ENST00000426361.2	-	0	245				RP5-1047A19.4_ENST00000530223.1_RNA	NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						GCATGGAGTGGAGGTGAAAAA	0.408																																						ENST00000426361.2																			0				endometrium(1)	1																																														0							g.chr8:146220662G>T	BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146220662G>T								NR_023392.1						0	245	-									RNA	SNP	ENST00000426361.2	37																																																																																						0.408	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000451422.1	NR_023392		5	109	1	0	0.184627	1	0.184627	5	109				
PRPF8	10594	broad.mit.edu	37	17	1563731	1563731	+	Missense_Mutation	SNP	A	A	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:1563731A>G	ENST00000572621.1	-	29	5045	c.4780T>C	c.(4780-4782)Tgt>Cgt	p.C1594R	PRPF8_ENST00000304992.6_Missense_Mutation_p.C1594R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1594	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCCACCTGACATAAGTCCATA	0.522																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4780-4782)Tgt>Cgt		pre-mRNA processing factor 8							348.0	357.0	354.0					17																	1563731		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563731A>G	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4780T>C	17.37:g.1563731A>G	ENSP00000460348:p.Cys1594Arg					PRPF8_ENST00000304992.6_Missense_Mutation_p.C1594R	p.C1594R			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	29	5045	-			1594					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4780T>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	a	11.73	1.727161	0.30593	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.81499	-1.5	5.95	5.95	0.96441	Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding (1);	0.039639	0.85682	D	0.000000	D	0.90202	0.6937	M	0.85099	2.735	0.80722	D	1	D	0.54397	0.966	D	0.65140	0.932	D	0.91493	0.5213	10	0.72032	D	0.01	-27.9396	16.4159	0.83738	1.0:0.0:0.0:0.0	.	1594	Q6P2Q9	PRP8_HUMAN	R	1594;121	ENSP00000304350:C1594R	ENSP00000304350:C1594R	C	-	1	0	PRPF8	1510481	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	9.210000	0.95106	2.279000	0.76181	0.533000	0.62120	TGT		0.522	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			380	26	0	0	0	1	0	380	26				
INTS10	55174	broad.mit.edu	37	8	19682374	19682374	+	Silent	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:19682374T>C	ENST00000397977.3	+	8	1295	c.897T>C	c.(895-897)gaT>gaC	p.D299D		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	299					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ACAACTTTGATAGTGAAGCAC	0.363																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(895-897)gaT>gaC		integrator complex subunit 10							91.0	83.0	85.0					8																	19682374		1857	4097	5954	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19682374T>C	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.897T>C	8.37:g.19682374T>C							p.D299D	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	8	1295	+			299					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.897T>C	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	T	7.190	0.591330	0.13812	.	.	ENSG00000104613	ENST00000523846	.	.	.	5.62	-1.59	0.08453	.	.	.	.	.	T	0.52041	0.1710	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44937	-0.9295	4	.	.	.	-28.1983	7.7393	0.28833	0.1276:0.5278:0.0:0.3446	.	.	.	.	T	75	.	.	I	+	2	0	INTS10	19726654	0.945000	0.32115	0.745000	0.31077	0.833000	0.47200	0.002000	0.13061	-0.210000	0.10140	0.383000	0.25322	ATA		0.363	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		41	20	0	0	0	1	0	41	20				
GOLGA7	51125	broad.mit.edu	37	8	41363429	41363429	+	Splice_Site	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:41363429G>A	ENST00000357743.4	+	3	465		c.e3-1		GOLGA7_ENST00000518270.1_Splice_Site|GOLGA7_ENST00000405786.2_Splice_Site|GOLGA7_ENST00000520817.1_Splice_Site|GOLGA7_ENST00000521417.1_Splice_Site	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	golgin A7						Golgi to plasma membrane protein transport (GO:0043001)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CTTTCTGTCAGGTTCTGAAGA	0.438																																						ENST00000357743.4																			0				breast(1)|large_intestine(1)	2						c.e3-1		golgin A7							99.0	99.0	99.0					8																	41363429		2203	4300	6503	SO:0001630	splice_region_variant	51125					Golgi membrane		g.chr8:41363429G>A	AF125102	CCDS34887.1, CCDS55226.1	8p11.21	2011-10-25	2010-02-12		ENSG00000147533	ENSG00000147533			24876	protein-coding gene	gene with protein product		609453	"""golgi autoantigen, golgin subfamily a, 7"""			11042152	Standard	NM_001174124		Approved	GCP16, HSPC041, GOLGA3AP1, GOLGA7A	uc003xnu.3	Q7Z5G4	OTTHUMG00000164077	ENST00000357743.4:c.265-1G>A	8.37:g.41363429G>A						GOLGA7_ENST00000518270.1_Splice_Site|GOLGA7_ENST00000405786.2_Splice_Site|GOLGA7_ENST00000520817.1_Splice_Site|GOLGA7_ENST00000521417.1_Splice_Site		NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)		3	465	+	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)						D3DSX9|J3KQ24|Q96EQ4|Q9P1S0|Q9Y5U7	Splice_Site	SNP	ENST00000357743.4	37		CCDS34887.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734822	0.30774	.	.	ENSG00000147533	ENST00000518270;ENST00000520817;ENST00000405786;ENST00000357743	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0242	0.89263	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GOLGA7	41482586	1.000000	0.71417	0.997000	0.53966	0.169000	0.22640	9.869000	0.99810	2.481000	0.83766	0.655000	0.94253	.		0.438	GOLGA7-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377142.1	NM_016099	Intron	5	38	0	0	0	1	0	5	38				
SIX4	51804	broad.mit.edu	37	14	61180412	61180412	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:61180412C>T	ENST00000216513.4	-	3	2118	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	687					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGAACTATTTCCCCAAGGGCA	0.473																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2059-2061)Gaa>Aaa		SIX homeobox 4							92.0	83.0	86.0					14																	61180412		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61180412C>T	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.2059G>A	14.37:g.61180412C>T	ENSP00000216513:p.Glu687Lys						p.E687K	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	3	2118	-			687					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.2059G>A	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466418	0.63625	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.91295	-2.82;0.8	5.76	5.76	0.90799	.	0.074981	0.48767	D	0.000175	D	0.83695	0.5310	N	0.14661	0.345	0.80722	D	1	P	0.42827	0.791	B	0.35859	0.212	D	0.85936	0.1455	10	0.66056	D	0.02	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	687	Q9UIU6	SIX4_HUMAN	K	687;360	ENSP00000216513:E687K;ENSP00000451537:E360K	ENSP00000216513:E687K	E	-	1	0	SIX4	60250165	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.317000	0.65822	2.882000	0.98803	0.655000	0.94253	GAA		0.473	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			22	13	0	0	0	1	0	22	13				
IL5RA	3568	broad.mit.edu	37	3	3143448	3143448	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr3:3143448G>A	ENST00000446632.2	-	5	869	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	IL5RA_ENST00000456302.1_Missense_Mutation_p.R99W|IL5RA_ENST00000438560.1_Missense_Mutation_p.R99W|IL5RA_ENST00000311981.8_Missense_Mutation_p.R99W|IL5RA_ENST00000418488.2_Missense_Mutation_p.R99W|IL5RA_ENST00000430514.2_Missense_Mutation_p.R99W|IL5RA_ENST00000383846.1_Missense_Mutation_p.R99W|IL5RA_ENST00000445864.2_Missense_Mutation_p.R99W|IL5RA_ENST00000256452.3_Missense_Mutation_p.R99W|SNORA43_ENST00000517240.1_RNA	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	99	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AGGATGGTCCGCACACTTGCT	0.463																																					GBM(169;430 2801 24955 28528)	ENST00000446632.2																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24						c.(295-297)Cgg>Tgg		interleukin 5 receptor, alpha							119.0	109.0	112.0					3																	3143448		2203	4300	6503	SO:0001583	missense	0				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3143448G>A	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.295C>T	3.37:g.3143448G>A	ENSP00000412209:p.Arg99Trp					IL5RA_ENST00000430514.2_Missense_Mutation_p.R99W|IL5RA_ENST00000256452.3_Missense_Mutation_p.R99W|IL5RA_ENST00000445864.2_Missense_Mutation_p.R99W|IL5RA_ENST00000418488.2_Missense_Mutation_p.R99W|IL5RA_ENST00000456302.1_Missense_Mutation_p.R99W|IL5RA_ENST00000438560.1_Missense_Mutation_p.R99W|IL5RA_ENST00000311981.8_Missense_Mutation_p.R99W|IL5RA_ENST00000383846.1_Missense_Mutation_p.R99W	p.R99W	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	5	869	-			99					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.295C>T	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848333	0.51164	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701;ENST00000427088	D;D;D;T;T;T;T;T;T;T	0.89270	-2.49;-2.39;-2.49;0.96;1.08;1.04;1.04;1.04;1.04;1.01	5.19	2.3	0.28687	Immunoglobulin-like fold (1);	0.815981	0.11006	N	0.609943	D	0.92074	0.7488	M	0.63843	1.955	0.21915	N	0.999473	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;P;D;D;D	0.77004	0.962;0.977;0.897;0.945;0.989;0.936	T	0.81116	-0.1079	10	0.72032	D	0.01	-6.1948	6.7086	0.23264	0.0845:0.0:0.5918:0.3237	.	99;99;99;99;99;99	B4E2G0;Q01344-3;Q01344-2;Q01344;B3IU77;E7ERY4	.;.;.;IL5RA_HUMAN;.;.	W	99	ENSP00000412209:R99W;ENSP00000390753:R99W;ENSP00000256452:R99W;ENSP00000388858:R99W;ENSP00000402598:R99W;ENSP00000373358:R99W;ENSP00000309196:R99W;ENSP00000400400:R99W;ENSP00000392059:R99W;ENSP00000398117:R99W	ENSP00000256452:R99W	R	-	1	2	IL5RA	3118448	0.968000	0.33430	0.006000	0.13384	0.002000	0.02628	2.882000	0.48546	0.162000	0.19483	-0.142000	0.14014	CGG		0.463	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			17	21	0	0	0	1	0	17	21				
SNCAIP	9627	broad.mit.edu	37	5	121759376	121759376	+	Missense_Mutation	SNP	A	A	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:121759376A>C	ENST00000261368.8	+	4	1206	c.944A>C	c.(943-945)tAt>tCt	p.Y315S	SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.Y362S|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.Y362S|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Y315S|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Y362S	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	315					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGAGTGAGTATCTGAAAAAA	0.448																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1084-1086)tAt>tCt		synuclein, alpha interacting protein							96.0	103.0	101.0					5																	121759376		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121759376A>C	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.944A>C	5.37:g.121759376A>C	ENSP00000261368:p.Tyr315Ser					SNCAIP_ENST00000503116.2_Missense_Mutation_p.Y362S|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Y315S|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.Y315S|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Y362S	p.Y362S			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	6	2513	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	315					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.1085A>C	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510347	0.27036	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.11930	5.06;2.77;2.73;5.06;2.73;4.52	5.92	3.51	0.40186	.	0.399027	0.29314	N	0.012517	T	0.07548	0.0190	N	0.08118	0	0.80722	D	1	B;B;P;B	0.39480	0.062;0.041;0.675;0.001	B;B;B;B	0.41988	0.022;0.029;0.372;0.001	T	0.43360	-0.9396	9	.	.	.	-2.371	8.405	0.32610	0.7992:0.1331:0.0676:0.0	.	315;362;362;315	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	S	315;315;362;315;362;362	ENSP00000422106:Y315S;ENSP00000261368:Y315S;ENSP00000368848:Y362S;ENSP00000368851:Y315S;ENSP00000261367:Y362S;ENSP00000423199:Y362S	.	Y	+	2	0	SNCAIP	121787275	0.973000	0.33851	0.841000	0.33234	0.986000	0.74619	2.592000	0.46171	0.485000	0.27652	0.533000	0.62120	TAT		0.448	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			19	103	0	0	0	1	0	19	103				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		6	2	0	0	0	1	0	6	2				
TSIX	9383	broad.mit.edu	37	X	73044555	73044555	+	lincRNA	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:73044555G>A	ENST00000604411.1	+	0	32516				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TGAATTAAGTGACTTTCGGTC	0.323																																						ENST00000604411.1																			0																				51.0	52.0	52.0					X																	73044555		876	1991	2867			0							g.chrX:73044555G>A			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73044555G>A						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	32516	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.323	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		4	30	0	0	0	1	0	4	30				
TMPRSS15	5651	broad.mit.edu	37	21	19732106	19732106	+	Missense_Mutation	SNP	T	T	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr21:19732106T>A	ENST00000284885.3	-	8	881	c.848A>T	c.(847-849)tAt>tTt	p.Y283F		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	283	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TACACCTTCATAAATATCTAA	0.259																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(847-849)tAt>tTt		transmembrane protease, serine 15							29.0	33.0	32.0					21																	19732106		2185	4250	6435	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19732106T>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.848A>T	21.37:g.19732106T>A	ENSP00000284885:p.Tyr283Phe						p.Y283F	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			8	881	-			283			CUB 1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.848A>T	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.035204	0.54896	.	.	ENSG00000154646	ENST00000284885	T	0.38077	1.16	4.95	4.95	0.65309	CUB (5);	0.000000	0.64402	D	0.000001	T	0.38161	0.1030	L	0.50333	1.59	0.41687	D	0.989329	P	0.44309	0.832	P	0.46685	0.524	T	0.15492	-1.0435	9	.	.	.	.	10.9205	0.47161	0.0:0.0:0.0:1.0	.	283	P98073	ENTK_HUMAN	F	283	ENSP00000284885:Y283F	.	Y	-	2	0	TMPRSS15	18653977	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	2.741000	0.47426	2.080000	0.62538	0.254000	0.18369	TAT		0.259	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		7	20	0	0	0	1	0	7	20				
TGM6	343641	broad.mit.edu	37	20	2377168	2377168	+	Silent	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:2377168G>T	ENST00000202625.2	+	4	502	c.441G>T	c.(439-441)ctG>ctT	p.L147L	TGM6_ENST00000381423.1_Silent_p.L147L|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	147					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGTGTTTCTGGCCTCAGAGG	0.617																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(439-441)ctG>ctT		transglutaminase 6	L-Glutamine(DB00130)						88.0	76.0	80.0					20																	2377168		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2377168G>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.441G>T	20.37:g.2377168G>T						TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Silent_p.L147L	p.L147L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			4	502	+			147					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.441G>T	CCDS13025.1																																																																																				0.617	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		12	89	1	0	9.31168e-06	1	1.02667e-05	12	89				
DHX9	1660	broad.mit.edu	37	1	182829308	182829308	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:182829308G>T	ENST00000367549.3	+	12	1431	c.1321G>T	c.(1321-1323)Gta>Tta	p.V441L		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	441	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTGTAACATCGTAGTAACTCA	0.378																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(1321-1323)Gta>Tta		DEAH (Asp-Glu-Ala-His) box helicase 9							50.0	46.0	47.0					1																	182829308		1846	4086	5932	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182829308G>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1321G>T	1.37:g.182829308G>T	ENSP00000356520:p.Val441Leu						p.V441L	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			12	1431	+			441			Helicase ATP-binding.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.1321G>T	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687166	0.68157	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.10192	2.9	5.58	5.58	0.84498	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.13670	0.0331	L	0.42744	1.35	0.80722	D	1	P	0.39535	0.677	B	0.38327	0.271	T	0.01566	-1.1323	10	0.45353	T	0.12	.	19.1935	0.93677	0.0:0.0:1.0:0.0	.	441	Q08211	DHX9_HUMAN	L	441	ENSP00000356520:V441L	ENSP00000356520:V441L	V	+	1	0	DHX9	181095931	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.178000	0.77657	2.641000	0.89580	0.563000	0.77884	GTA		0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		22	45	1	0	5.26018e-13	1	6.11318e-13	22	45				
REPIN1	29803	broad.mit.edu	37	7	150069555	150069555	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:150069555G>A	ENST00000425389.2	+	1	1303	c.1225G>A	c.(1225-1227)Ggg>Agg	p.G409R	REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.G466R|REPIN1_ENST00000397281.2_Missense_Mutation_p.G409R|REPIN1_ENST00000444957.1_Missense_Mutation_p.G409R|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.G409R	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	409					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGCCGAGTGCGGGAAGAACTT	0.721																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1225-1227)Ggg>Agg		replication initiator 1							4.0	5.0	5.0					7																	150069555		1919	4009	5928	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069555G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1225G>A	7.37:g.150069555G>A	ENSP00000388287:p.Gly409Arg					REPIN1_ENST00000489432.2_Missense_Mutation_p.G466R|REPIN1_ENST00000425389.2_Missense_Mutation_p.G409R|REPIN1_ENST00000540729.1_Missense_Mutation_p.G409R|REPIN1_ENST00000444957.1_Missense_Mutation_p.G409R|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000479668.1_3'UTR	p.G409R	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1714	+	Ovarian(565;0.183)|Melanoma(164;0.226)		409					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.1225G>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906357	0.72868	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	4.39	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49729	0.1574	L	0.50847	1.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48990	-0.8985	9	0.62326	D	0.03	-16.0677	8.1462	0.31113	0.1079:0.0:0.8921:0.0	.	466;409	C9J3L7;Q9BWE0	.;REPI1_HUMAN	R	409;409;409;466;409	ENSP00000445016:G409R;ENSP00000380451:G409R;ENSP00000407714:G409R;ENSP00000417291:G466R;ENSP00000388287:G409R	ENSP00000380451:G409R	G	+	1	0	REPIN1	149700488	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	3.559000	0.53756	2.285000	0.76669	0.462000	0.41574	GGG		0.721	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		3	11	0	0	0	1	0	3	11				
GALNT8	26290	broad.mit.edu	37	12	4855406	4855406	+	Silent	SNP	C	C	T	rs370114403		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:4855406C>T	ENST00000252318.2	+	6	1492	c.1155C>T	c.(1153-1155)aaC>aaT	p.N385N		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	385	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GAGGAGAGAACGTGGAGCTTA	0.498																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(1153-1155)aaC>aaT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)		C		1,4405	2.1+/-5.4	0,1,2202	176.0	161.0	166.0		1155	-3.2	1.0	12		166	0,8600		0,0,4300	no	coding-synonymous	GALNT8	NM_017417.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		385/638	4855406	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4855406C>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1155C>T	12.37:g.4855406C>T							p.N385N	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			6	1492	+			385			Catalytic subdomain B.		B2RU02	Silent	SNP	ENST00000252318.2	37	c.1155C>T	CCDS8533.1																																																																																				0.498	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		37	56	0	0	0	1	0	37	56				
LOC101927648	101927648	broad.mit.edu	37	1	143403564	143403564	+	lincRNA	SNP	A	A	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:143403564A>G	ENST00000423249.1	-	0	59																											TTCTTTGGCCACTTTGGCTGA	0.453																																						ENST00000423249.1																			0																																																			0							g.chr1:143403564A>G																													1.37:g.143403564A>G														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.453	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			3	13	0	0	0	1	0	3	13				
RBBP9	10741	broad.mit.edu	37	20	18477788	18477788	+	Silent	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:18477788C>T	ENST00000337227.4	-	1	99	c.24G>A	c.(22-24)gtG>gtA	p.V8V	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	8					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						CGGGAACAATCACTGCCTTGC	0.662																																						ENST00000337227.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						c.(22-24)gtG>gtA		retinoblastoma binding protein 9							54.0	44.0	48.0					20																	18477788		2203	4300	6503	SO:0001819	synonymous_variant	10741					cytoplasm|nucleus	hydrolase activity	g.chr20:18477788C>T	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.24G>A	20.37:g.18477788C>T						RBBP9_ENST00000493184.1_5'UTR	p.V8V	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN			1	99	-			8					D3DW31|Q5JPH9|Q9H1D8	Silent	SNP	ENST00000337227.4	37	c.24G>A	CCDS13136.1																																																																																				0.662	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606		4	46	0	0	0	1	0	4	46				
MARCH2	51257	broad.mit.edu	37	19	8486873	8486873	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:8486873C>T	ENST00000602117.1	+	2	604	c.149C>T	c.(148-150)aCc>aTc	p.T50I	MARCH2_ENST00000601283.1_Intron|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000215555.2_Missense_Mutation_p.T50I|MARCH2_ENST00000393944.1_Missense_Mutation_p.T50I|MARCH2_ENST00000381035.4_Missense_Mutation_p.T50I			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	50					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CTCCTCTCCACCGTCATCCGT	0.627																																						ENST00000602117.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						c.(148-150)aCc>aTc		membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase							89.0	71.0	77.0					19																	8486873		2203	4300	6503	SO:0001583	missense	51257				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr19:8486873C>T	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.149C>T	19.37:g.8486873C>T	ENSP00000471536:p.Thr50Ile					MARCH2_ENST00000393944.1_Missense_Mutation_p.T50I|MARCH2_ENST00000381035.4_Missense_Mutation_p.T50I|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.T50I	p.T50I			Q9P0N8	MARH2_HUMAN			2	604	+			50					A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	37	c.149C>T	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315695	0.81469	.	.	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.17691	2.26;2.26;2.26	5.65	4.58	0.56647	.	0.104666	0.64402	D	0.000005	T	0.30541	0.0768	M	0.64997	1.995	0.53688	D	0.999974	P;D	0.57899	0.741;0.981	B;P	0.52109	0.2;0.69	T	0.08806	-1.0704	10	0.87932	D	0	-14.2707	15.0401	0.71785	0.0:0.857:0.143:0.0	.	50;50	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	I	50	ENSP00000377518:T50I;ENSP00000215555:T50I;ENSP00000370423:T50I	ENSP00000215555:T50I	T	+	2	0	MARCH2	8392873	1.000000	0.71417	0.238000	0.24106	0.955000	0.61496	5.734000	0.68580	1.334000	0.45468	0.555000	0.69702	ACC		0.627	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		19	54	0	0	0	1	0	19	54				
MUM1L1	139221	broad.mit.edu	37	X	105449630	105449630	+	Missense_Mutation	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:105449630T>C	ENST00000357175.2	+	4	854	c.205T>C	c.(205-207)Tca>Cca	p.S69P	MUM1L1_ENST00000372552.1_Missense_Mutation_p.S69P|MUM1L1_ENST00000337685.2_Missense_Mutation_p.S69P	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	69						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATTGCTGCCTCATTAGGACT	0.388																																						ENST00000337685.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(205-207)Tca>Cca		melanoma associated antigen (mutated) 1-like 1							40.0	35.0	37.0					X																	105449630		1900	4109	6009	SO:0001583	missense	139221							g.chrX:105449630T>C	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.205T>C	X.37:g.105449630T>C	ENSP00000349699:p.Ser69Pro					MUM1L1_ENST00000372552.1_Missense_Mutation_p.S69P|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S69P	p.S69P	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN			5	990	+			69					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.205T>C	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.510276	0.27036	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.34667	1.35;1.35;1.35	4.14	2.93	0.34026	.	0.586122	0.14033	N	0.345972	T	0.48537	0.1505	M	0.77820	2.39	0.09310	N	0.999996	D	0.65815	0.995	P	0.55161	0.77	T	0.33803	-0.9854	10	0.45353	T	0.12	-21.8722	5.8764	0.18832	0.2367:0.0:0.0:0.7633	.	69	Q5H9M0	MUML1_HUMAN	P	69	ENSP00000349699:S69P;ENSP00000338641:S69P;ENSP00000361632:S69P	ENSP00000338641:S69P	S	+	1	0	MUM1L1	105336286	0.964000	0.33143	0.455000	0.27031	0.078000	0.17371	2.023000	0.41040	0.677000	0.31305	0.486000	0.48141	TCA		0.388	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		7	27	0	0	0	1	0	7	27				
SLC25A42	284439	broad.mit.edu	37	19	19216533	19216533	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:19216533G>A	ENST00000318596.7	+	5	528	c.377G>A	c.(376-378)gGa>gAa	p.G126E	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	126					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GGCTTCCGTGGAGAGTGAGgc	0.672																																						ENST00000318596.7																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(376-378)gGa>gAa		solute carrier family 25, member 42							23.0	15.0	18.0					19																	19216533		2194	4270	6464	SO:0001583	missense	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19216533G>A		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.377G>A	19.37:g.19216533G>A	ENSP00000326693:p.Gly126Glu					SLC25A42_ENST00000600275.1_Intron	p.G126E	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		5	528	+			126					D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	37	c.377G>A	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062649	0.55432	.	.	ENSG00000181035	ENST00000318596	T	0.78481	-1.18	4.31	4.31	0.51392	Mitochondrial carrier domain (2);DNA mismatch repair, conserved site (1);	0.054660	0.64402	D	0.000001	T	0.64148	0.2572	L	0.33339	1.005	0.80722	D	1	P;B	0.35272	0.493;0.017	B;B	0.26202	0.067;0.018	T	0.63382	-0.6650	10	0.17832	T	0.49	-3.9503	15.707	0.77592	0.0:0.0:1.0:0.0	.	178;126	B7Z8R5;Q86VD7	.;S2542_HUMAN	E	126	ENSP00000326693:G126E	ENSP00000326693:G126E	G	+	2	0	SLC25A42	19077533	1.000000	0.71417	0.989000	0.46669	0.762000	0.43233	5.871000	0.69628	2.110000	0.64415	0.462000	0.41574	GGA		0.672	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		4	5	0	0	0	1	0	4	5				
NID2	22795	broad.mit.edu	37	14	52520497	52520497	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:52520497G>A	ENST00000216286.5	-	5	1228	c.1229C>T	c.(1228-1230)aCc>aTc	p.T410I	NID2_ENST00000541773.1_Missense_Mutation_p.T357I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	410					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CGGTGGTGGGGTTTCCCAGGA	0.557																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1228-1230)aCc>aTc		nidogen 2 (osteonidogen)							105.0	93.0	97.0					14																	52520497		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520497G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1229C>T	14.37:g.52520497G>A	ENSP00000216286:p.Thr410Ile					NID2_ENST00000541773.1_Missense_Mutation_p.T357I	p.T410I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			5	1228	-	Breast(41;0.0639)|all_epithelial(31;0.123)		410					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1229C>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	6.781	0.513120	0.12944	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.83419	-1.72;-1.61	5.55	-2.21	0.06973	.	1.203870	0.05542	N	0.565900	T	0.62720	0.2451	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27971	0.034;0.196;0.013	B;B;B	0.19148	0.009;0.024;0.006	T	0.44390	-0.9331	10	0.22109	T	0.4	.	2.2016	0.03925	0.2909:0.3664:0.2294:0.1134	.	357;412;410	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	I	410;357;412	ENSP00000216286:T410I;ENSP00000443730:T357I	ENSP00000216286:T410I	T	-	2	0	NID2	51590247	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.262000	0.08682	-0.873000	0.04032	-0.140000	0.14226	ACC		0.557	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			39	53	0	0	0	1	0	39	53				
KRTAP10-8	386681	broad.mit.edu	37	21	46032537	46032537	+	Missense_Mutation	SNP	A	A	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr21:46032537A>C	ENST00000334662.2	+	1	542	c.520A>C	c.(520-522)Atc>Ctc	p.I174L	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	174	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCAAGCCCATCTGCTGTGT	0.622																																						ENST00000334662.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(520-522)Atc>Ctc		keratin associated protein 10-8							217.0	206.0	210.0					21																	46032537		2203	4300	6503	SO:0001583	missense	386681					keratin filament		g.chr21:46032537A>C	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.520A>C	21.37:g.46032537A>C	ENSP00000335565:p.Ile174Leu					TSPEAR_ENST00000323084.4_Intron	p.I174L	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN			1	542	+			174			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	c.520A>C	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	a	2.283	-0.364265	0.05103	.	.	ENSG00000187766	ENST00000334662	T	0.01335	5.0	2.42	-2.48	0.06423	.	.	.	.	.	T	0.01156	0.0038	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48490	-0.9031	9	0.29301	T	0.29	.	0.8504	0.01171	0.27:0.1746:0.3794:0.176	.	174	P60410	KR108_HUMAN	L	174	ENSP00000335565:I174L	ENSP00000335565:I174L	I	+	1	0	KRTAP10-8	44856965	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.120000	0.15647	-0.346000	0.08312	-1.594000	0.00841	ATC		0.622	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		176	238	0	0	0	1	0	176	238				
MT-ND5	4540	broad.mit.edu	37	M	12619	12619	+	Missense_Mutation	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrM:12619T>C	ENST00000361567.2	+	1	283	c.283T>C	c.(283-285)Ttc>Ctc	p.F95L	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	95			F -> S. {ECO:0000269|PubMed:1757091}.		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CTGTAGCATTGTTCGTTACAT	0.373																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(283-285)Ttc>Ctc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12619T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.283T>C	M.37:g.12619T>C	ENSP00000354813:p.Phe95Leu						p.F95L			P03915	NU5M_HUMAN			1	283	+			95		F -> S.			Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.283T>C																																																																																					0.373	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		38	7	0	0	0	1	0	38	7				
KRBA1	84626	broad.mit.edu	37	7	149418077	149418077	+	Silent	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:149418077C>T	ENST00000485033.2	+	3	306	c.306C>T	c.(304-306)ccC>ccT	p.P102P	KRBA1_ENST00000319551.8_Silent_p.P102P|KRBA1_ENST00000255992.10_Silent_p.P102P|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	102										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGCGAGCCCCGAGGGTAAGT	0.617																																						ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(304-306)ccC>ccT		KRAB-A domain containing 1							39.0	47.0	44.0					7																	149418077		2193	4292	6485	SO:0001819	synonymous_variant	84626							g.chr7:149418077C>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.306C>T	7.37:g.149418077C>T						KRBA1_ENST00000319551.8_Silent_p.P102P|KRBA1_ENST00000485033.2_Silent_p.P102P|KRBA1_ENST00000479560.1_3'UTR	p.P102P	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		4	705	+	Melanoma(164;0.165)|Ovarian(565;0.177)		102					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.306C>T		.	.	.	.	.	.	.	.	.	.	C	1.478	-0.558040	0.03967	.	.	ENSG00000133619	ENST00000467333	.	.	.	4.57	-9.15	0.00698	.	.	.	.	.	.	.	.	.	.	.	0.20764	N	0.999854	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.7671	0.8986	0.01269	0.2497:0.1516:0.1803:0.4184	.	.	.	.	X	13	.	.	R	+	1	2	KRBA1	149049010	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-3.678000	0.00395	-2.701000	0.00398	-0.742000	0.03525	CGA		0.617	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		23	40	0	0	0	1	0	23	40				
MC3R	4159	broad.mit.edu	37	20	54824623	54824623	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:54824623G>C	ENST00000243911.2	+	1	836	c.724G>C	c.(724-726)Gtc>Ctc	p.V242L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	242					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GAAGGGGGCAGTCACCATCAC	0.607																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(724-726)Gtc>Ctc		melanocortin 3 receptor							257.0	163.0	195.0					20																	54824623		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824623G>C		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.724G>C	20.37:g.54824623G>C	ENSP00000243911:p.Val242Leu						p.V242L	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	836	+			279					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.724G>C	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842048	0.51057	.	.	ENSG00000124089	ENST00000243911	T	0.36878	1.23	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.096535	0.41938	D	0.000793	T	0.27349	0.0671	L	0.37800	1.135	0.41749	D	0.989653	P	0.41710	0.76	B	0.37550	0.253	T	0.05632	-1.0873	10	0.39692	T	0.17	.	11.2711	0.49140	0.0851:0.0:0.9149:0.0	.	279	P41968	MC3R_HUMAN	L	242	ENSP00000243911:V242L	ENSP00000243911:V242L	V	+	1	0	MC3R	54258030	0.999000	0.42202	0.952000	0.39060	0.977000	0.68977	3.070000	0.50033	2.259000	0.74868	0.555000	0.69702	GTC		0.607	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			92	21	0	0	0	1	0	92	21				
FSD2	123722	broad.mit.edu	37	15	83455920	83455920	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr15:83455920C>T	ENST00000334574.8	-	2	404	c.223G>A	c.(223-225)Gtc>Atc	p.V75I	FSD2_ENST00000541889.1_Missense_Mutation_p.V75I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	75										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TATAAGTGGACAAGTTCATCC	0.423																																						ENST00000334574.8																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.(223-225)Gtc>Atc		fibronectin type III and SPRY domain containing 2							163.0	161.0	162.0					15																	83455920		1987	4157	6144	SO:0001583	missense	123722							g.chr15:83455920C>T	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.223G>A	15.37:g.83455920C>T	ENSP00000335651:p.Val75Ile					FSD2_ENST00000541889.1_Missense_Mutation_p.V75I	p.V75I			A1L4K1	FSD2_HUMAN			2	404	-			75					B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.223G>A	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727865	0.48833	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.46451	0.87;0.87	4.54	4.54	0.55810	.	0.229087	0.22341	N	0.061336	T	0.32941	0.0846	L	0.36672	1.1	0.09310	N	1	B;B	0.31625	0.039;0.332	B;B	0.29862	0.037;0.108	T	0.13229	-1.0517	10	0.15066	T	0.55	-8.0785	16.4643	0.84073	0.0:1.0:0.0:0.0	.	75;75	B7ZM02;A1L4K1	.;FSD2_HUMAN	I	75	ENSP00000335651:V75I;ENSP00000444078:V75I	ENSP00000335651:V75I	V	-	1	0	FSD2	81252974	0.466000	0.25823	0.042000	0.18584	0.990000	0.78478	1.906000	0.39887	2.354000	0.79902	0.655000	0.94253	GTC		0.423	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		14	75	0	0	0	1	0	14	75				
HIP1	3092	broad.mit.edu	37	7	75184771	75184771	+	Missense_Mutation	SNP	C	C	T	rs138838220	byFrequency	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:75184771C>T	ENST00000336926.6	-	19	1938	c.1912G>A	c.(1912-1914)Gcc>Acc	p.A638T	HIP1_ENST00000434438.2_Missense_Mutation_p.A638T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	638					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGTTCAGGGCGTCTTGTATC	0.552			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1912-1914)Gcc>Acc		huntingtin interacting protein 1		C	THR/ALA	0,4406		0,0,2203	104.0	84.0	91.0		1912	4.6	1.0	7	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	missense	HIP1	NM_005338.5	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	638/1038	75184771	2,13004	2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75184771C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1912G>A	7.37:g.75184771C>T	ENSP00000336747:p.Ala638Thr					HIP1_ENST00000434438.2_Missense_Mutation_p.A638T	p.A638T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			19	1938	-			638					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.1912G>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517624	0.64634	0.0	2.33E-4	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.22539	2.28;1.95	5.49	4.6	0.57074	.	0.386381	0.31601	N	0.007376	T	0.21022	0.0506	L	0.55103	1.725	0.39936	D	0.974351	P;B	0.37955	0.612;0.034	B;B	0.35353	0.201;0.014	T	0.04216	-1.0968	10	0.41790	T	0.15	-21.1477	13.3581	0.60640	0.0:0.9217:0.0:0.0783	.	638;638	E7ES17;O00291	.;HIP1_HUMAN	T	638	ENSP00000336747:A638T;ENSP00000410300:A638T	ENSP00000336747:A638T	A	-	1	0	HIP1	75022707	0.982000	0.34865	0.999000	0.59377	0.979000	0.70002	1.021000	0.30040	2.572000	0.86782	0.655000	0.94253	GCC		0.552	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		55	34	0	0	0	1	0	55	34				
SOGA3	387104	broad.mit.edu	37	6	127797193	127797193	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:127797193G>A	ENST00000525778.1	-	6	2723	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	SOGA3_ENST00000465909.2_Missense_Mutation_p.R660W|SOGA3_ENST00000368268.2_Missense_Mutation_p.R660W|SOGA3_ENST00000481848.2_Missense_Mutation_p.R660W|SOGA3_ENST00000556132.1_Missense_Mutation_p.R660W|SOGA3_ENST00000474293.2_5'Flank			Q5TF21	SOGA3_HUMAN	SOGA family member 3	660					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R660W(1)									ACGTTCCTCCGCAGCAGCTCC	0.647																																						ENST00000556132.1																			1	Substitution - Missense(1)	p.R660W(1)	lung(1)								c.(1978-1980)Cgg>Tgg		SOGA family member 3							52.0	57.0	55.0					6																	127797193		2186	4288	6474	SO:0001583	missense	387104					integral to membrane		g.chr6:127797193G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1978C>T	6.37:g.127797193G>A	ENSP00000434570:p.Arg660Trp					SOGA3_ENST00000368268.2_Missense_Mutation_p.R660W|SOGA3_ENST00000465909.2_Missense_Mutation_p.R660W|SOGA3_ENST00000525778.1_Missense_Mutation_p.R660W|SOGA3_ENST00000481848.2_Missense_Mutation_p.R660W	p.R660W	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	2842	-			660						Missense_Mutation	SNP	ENST00000525778.1	37	c.1978C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.418939	0.62622	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.55588	0.51;0.51;0.51;0.53	5.22	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	M	0.79123	2.44	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.72134	-0.4382	10	0.87932	D	0	-19.8518	14.8169	0.70041	0.0:0.0:0.7809:0.2191	.	660	Q5TF21	CF174_HUMAN	W	660	ENSP00000451768:R660W;ENSP00000357251:R660W;ENSP00000434570:R660W;ENSP00000435559:R660W	ENSP00000435559:R660W	R	-	1	2	C6orf174	127838886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.244000	0.43124	2.445000	0.82738	0.561000	0.74099	CGG		0.647	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		19	78	0	0	0	1	0	19	78				
FGD6	55785	broad.mit.edu	37	12	95602757	95602757	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:95602757G>A	ENST00000343958.4	-	2	2526	c.2303C>T	c.(2302-2304)gCt>gTt	p.A768V	FGD6_ENST00000549499.1_Missense_Mutation_p.A768V|FGD6_ENST00000546711.1_Missense_Mutation_p.A768V|FGD6_ENST00000550368.1_5'Flank	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	768					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTTCCGTATAGCCATAATAAA	0.443																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2302-2304)gCt>gTt		FYVE, RhoGEF and PH domain containing 6							151.0	136.0	141.0					12																	95602757		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95602757G>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2303C>T	12.37:g.95602757G>A	ENSP00000344446:p.Ala768Val					FGD6_ENST00000549499.1_Missense_Mutation_p.A768V|FGD6_ENST00000546711.1_Missense_Mutation_p.A768V	p.A768V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			2	2526	-			768					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2303C>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	9.263	1.043763	0.19748	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.69040	-0.27;-0.37;-0.29	5.77	4.85	0.62838	.	0.150383	0.31102	N	0.008257	T	0.60301	0.2258	M	0.62723	1.935	0.20403	N	0.999907	B	0.15930	0.015	B	0.12837	0.008	T	0.57329	-0.7830	10	0.62326	D	0.03	-7.1082	6.4212	0.21744	0.1738:0.1621:0.6641:0.0	.	768	Q6ZV73	FGD6_HUMAN	V	768	ENSP00000344446:A768V;ENSP00000450342:A768V;ENSP00000449005:A768V	ENSP00000344446:A768V	A	-	2	0	FGD6	94126888	0.003000	0.15002	0.343000	0.25615	0.452000	0.32318	1.003000	0.29809	1.353000	0.45828	0.561000	0.74099	GCT		0.443	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		15	64	0	0	0	1	0	15	64				
CEP72	55722	broad.mit.edu	37	5	639302	639302	+	Silent	SNP	C	C	T	rs376000627		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:639302C>T	ENST00000264935.5	+	8	1395	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	435					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GGAGCTGGGGCGGCTGCAGGT	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		16650	0.001		0.0	False		,,,				2504	0.0					ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1303-1305)ggC>ggT		centrosomal protein 72kDa		C		0,4406		0,0,2203	48.0	55.0	53.0		1305	-4.2	0.0	5		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CEP72	NM_018140.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		435/648	639302	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:639302C>T	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1305C>T	5.37:g.639302C>T						CEP72_ENST00000444221.1_3'UTR	p.G435G	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		8	1395	+			435					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.1305C>T	CCDS34126.1																																																																																				0.672	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		13	106	0	0	0	1	0	13	106				
OR5D18	219438	broad.mit.edu	37	11	55587891	55587891	+	Silent	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:55587891G>T	ENST00000333976.4	+	1	806	c.786G>T	c.(784-786)gtG>gtT	p.V262V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V262V(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTACTGTGTGCCCAACTCCA	0.527																																						ENST00000333976.4																			1	Substitution - coding silent(1)	p.V262V(1)	lung(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(784-786)gtG>gtT		olfactory receptor, family 5, subfamily D, member 18							95.0	89.0	91.0					11																	55587891		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587891G>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.786G>T	11.37:g.55587891G>T							p.V262V	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	806	+		all_epithelial(135;0.208)	262					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.786G>T	CCDS31510.1																																																																																				0.527	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		32	26	1	0	1.13719e-10	1	1.30398e-10	32	26				
MAB21L2	10586	broad.mit.edu	37	4	151504556	151504556	+	Silent	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr4:151504556G>A	ENST00000317605.4	+	1	1480	c.375G>A	c.(373-375)gcG>gcA	p.A125A	LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000503716.1_5'Flank	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	125					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ATCTCTCAGCGCGTAAGATCC	0.627																																						ENST00000317605.4																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21						c.(373-375)gcG>gcA		mab-21-like 2 (C. elegans)							103.0	100.0	101.0					4																	151504556		2203	4300	6503	SO:0001819	synonymous_variant	10586				nervous system development	nucleus		g.chr4:151504556G>A	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.375G>A	4.37:g.151504556G>A						LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron	p.A125A	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1480	+	all_hematologic(180;0.151)		125					B3KP37|Q9HBA7	Silent	SNP	ENST00000317605.4	37	c.375G>A	CCDS3774.1																																																																																				0.627	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		41	105	0	0	0	1	0	41	105				
CHST8	64377	broad.mit.edu	37	19	34263305	34263305	+	Silent	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:34263305T>C	ENST00000262622.4	+	4	1370	c.612T>C	c.(610-612)aaT>aaC	p.N204N	CHST8_ENST00000438847.3_Silent_p.N204N|CHST8_ENST00000434302.1_Silent_p.N204N	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	204					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCTGCTCCAATTGGAAGCGGG	0.682																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(610-612)aaT>aaC		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							41.0	41.0	41.0					19																	34263305		2201	4298	6499	SO:0001819	synonymous_variant	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263305T>C	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.612T>C	19.37:g.34263305T>C						CHST8_ENST00000434302.1_Silent_p.N204N|CHST8_ENST00000438847.2_Silent_p.N204N	p.N204N	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1370	+	Esophageal squamous(110;0.162)		204					Q9H3N2	Silent	SNP	ENST00000262622.4	37	c.612T>C	CCDS12433.1																																																																																				0.682	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		54	65	0	0	0	1	0	54	65				
MT-ND6	4541	broad.mit.edu	37	M	15888	15888	+	5'Flank	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrM:15888G>A	ENST00000361681.2	-	0	0				MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CAAATGGGCCTGTCCTTGTAG	0.373																																						ENST00000387460.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:15888G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923			M.37:g.15888G>A	Exception_encountered													0	1	+								Q34774|Q8HG30	RNA	SNP	ENST00000361681.2	37																																																																																						0.373	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		5	41	0	0	0	1	0	5	41				
RIN2	54453	broad.mit.edu	37	20	19955931	19955931	+	Missense_Mutation	SNP	C	C	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:19955931C>A	ENST00000255006.6	+	8	1558	c.1409C>A	c.(1408-1410)cCg>cAg	p.P470Q	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	421					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCACGGCCCCCGTGCCATGGA	0.687																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(1408-1410)cCg>cAg		Ras and Rab interactor 2							11.0	13.0	12.0					20																	19955931		1896	4092	5988	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19955931C>A	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1409C>A	20.37:g.19955931C>A	ENSP00000255006:p.Pro470Gln					RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	p.P470Q	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			8	1558	+			421					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.1409C>A	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	8.721	0.914244	0.17907	.	.	ENSG00000132669	ENST00000255006	T	0.08008	3.14	4.87	1.25	0.21368	.	0.714530	0.13246	N	0.402490	T	0.04861	0.0131	N	0.16478	0.41	0.80722	D	1	B	0.19817	0.039	B	0.12837	0.008	T	0.39333	-0.9619	9	.	.	.	-10.7408	8.9529	0.35801	0.3423:0.5771:0.0:0.0806	.	421	Q8WYP3	RIN2_HUMAN	Q	470	ENSP00000255006:P470Q	.	P	+	2	0	RIN2	19903931	0.776000	0.28616	0.998000	0.56505	0.967000	0.64934	0.071000	0.14594	0.573000	0.29400	0.655000	0.94253	CCG		0.687	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			6	23	1	0	8.12818e-05	1	8.52468e-05	6	23				
BHLHE23	128408	broad.mit.edu	37	20	61637712	61637712	+	Silent	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:61637712G>A	ENST00000370346.2	-	1	675	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	123	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)	1						ACGGCTCGCAGCCCGTCCAGC	0.692																																						ENST00000370346.2																			0				NS(1)	1						c.(367-369)Ctg>Ttg		basic helix-loop-helix family, member e23							20.0	19.0	20.0					20																	61637712		2196	4296	6492	SO:0001819	synonymous_variant	128408				transcription, DNA-dependent	nucleus	DNA binding	g.chr20:61637712G>A	AL121673	CCDS33507.1, CCDS33507.2	20q13.33	2009-01-12	2009-01-12	2009-01-12	ENSG00000125533	ENSG00000125533		"""Basic helix-loop-helix proteins"""	16093	protein-coding gene	gene with protein product		609331	"""basic helix-loop-helix domain containing, class B, 4"""	BHLHB4		11863370, 18557763	Standard	NM_080606		Approved	bA305P22.3, Beta4, bHLHe23	uc002yeb.2	Q8NDY6	OTTHUMG00000032948	ENST00000370346.2:c.367C>T	20.37:g.61637712G>A							p.L123L	NM_080606.3	NP_542173.1	Q8NDY6	BHE23_HUMAN			1	675	-			123			Helix-loop-helix motif.		B2RP69	Silent	SNP	ENST00000370346.2	37	c.367C>T	CCDS33507.1																																																																																				0.692	BHLHE23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080095.2	NM_080606		5	44	0	0	0	1	0	5	44				
JUP	3728	broad.mit.edu	37	17	39914009	39914009	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:39914009G>C	ENST00000393931.3	-	11	1919	c.1801C>G	c.(1801-1803)Cag>Gag	p.Q601E	JUP_ENST00000310706.5_Missense_Mutation_p.Q601E|JUP_ENST00000393930.1_Missense_Mutation_p.Q601E|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	601	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCCACGCGCTGGATGTTCTCC	0.667																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1801-1803)Cag>Gag		junction plakoglobin							25.0	25.0	25.0					17																	39914009		2203	4298	6501	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39914009G>C	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1801C>G	17.37:g.39914009G>C	ENSP00000377508:p.Gln601Glu					JUP_ENST00000310706.5_Missense_Mutation_p.Q601E|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.Q601E	p.Q601E	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	11	1919	-		Breast(137;0.000162)	601					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1801C>G	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489799	0.44249	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.74106	-0.81;-0.81;-0.81	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.052290	0.85682	D	0.000000	T	0.73024	0.3534	L	0.58510	1.815	0.80722	D	1	B	0.27380	0.177	B	0.28849	0.095	T	0.73754	-0.3883	10	0.59425	D	0.04	-27.2952	17.0881	0.86616	0.0:0.0:1.0:0.0	.	601	P14923	PLAK_HUMAN	E	601	ENSP00000377507:Q601E;ENSP00000311113:Q601E;ENSP00000377508:Q601E	ENSP00000311113:Q601E	Q	-	1	0	JUP	37167535	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	3.833000	0.55790	2.518000	0.84900	0.561000	0.74099	CAG		0.667	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			38	0	0	0	0	1	0	38	0				
CORIN	10699	broad.mit.edu	37	4	47682239	47682239	+	Missense_Mutation	SNP	C	C	T	rs368765606		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr4:47682239C>T	ENST00000273857.4	-	8	1050	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	CORIN_ENST00000504584.1_Intron|CORIN_ENST00000505909.1_Intron|CORIN_ENST00000508498.1_Missense_Mutation_p.G212R|CORIN_ENST00000502252.1_Missense_Mutation_p.G284R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	351	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CGCCCGTCCCCGCAGCGATGC	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		20811	0.001		0.0	False		,,,				2504	0.0					ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(1051-1053)Ggg>Agg		corin, serine peptidase		C	ARG/GLY	0,4406		0,0,2203	113.0	86.0	95.0		1051	5.9	1.0	4		95	2,8598	2.2+/-6.3	0,2,4298	no	missense	CORIN	NM_006587.2	125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	351/1043	47682239	2,13004	2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47682239C>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1051G>A	4.37:g.47682239C>T	ENSP00000273857:p.Gly351Arg					CORIN_ENST00000504584.1_Intron|CORIN_ENST00000502252.1_Missense_Mutation_p.G284R|CORIN_ENST00000505909.1_Intron|CORIN_ENST00000508498.1_Missense_Mutation_p.G212R	p.G351R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			8	1050	-			351			LDL-receptor class A 3.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1051G>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974964	0.74360	0.0	2.33E-4	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252	D;D;D	0.95482	-3.72;-3.72;-3.72	5.89	5.89	0.94794	.	0.124617	0.51477	D	0.000085	D	0.95310	0.8478	N	0.13327	0.33	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.75484	0.889;0.986	D	0.95453	0.8536	10	0.44086	T	0.13	.	19.0917	0.93229	0.0:1.0:0.0:0.0	.	284;351	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	R	351;212;284	ENSP00000273857:G351R;ENSP00000425597:G212R;ENSP00000424212:G284R	ENSP00000273857:G351R	G	-	1	0	CORIN	47376996	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	4.177000	0.58276	2.799000	0.96334	0.580000	0.79431	GGG		0.547	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			35	17	0	0	0	1	0	35	17				
PLEKHA6	22874	broad.mit.edu	37	1	204237436	204237436	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:204237436G>C	ENST00000272203.3	-	4	423	c.107C>G	c.(106-108)aCt>aGt	p.T36S	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.T36S	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	36										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCTGTGCGAGTTGCCTGGGG	0.597																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(106-108)aCt>aGt		pleckstrin homology domain containing, family A member 6							72.0	62.0	66.0					1																	204237436		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204237436G>C	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.107C>G	1.37:g.204237436G>C	ENSP00000272203:p.Thr36Ser					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.T36S	p.T36S	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		4	423	-	all_cancers(21;0.0222)|Breast(84;0.179)		36					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.107C>G	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	8.515	0.867521	0.17250	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.08193	3.12;3.6	5.58	5.58	0.84498	.	0.393267	0.28712	N	0.014383	T	0.04679	0.0127	N	0.10707	0.03	0.22737	N	0.998797	B	0.02656	0.0	B	0.06405	0.002	T	0.35176	-0.9799	10	0.02654	T	1	-13.3446	17.3355	0.87280	0.0:0.0:1.0:0.0	.	36	Q9Y2H5	PKHA6_HUMAN	S	36	ENSP00000272203:T36S;ENSP00000402046:T36S	ENSP00000272203:T36S	T	-	2	0	PLEKHA6	202504059	0.912000	0.30974	0.274000	0.24659	0.498000	0.33706	5.401000	0.66326	2.611000	0.88343	0.591000	0.81541	ACT		0.597	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		33	29	0	0	0	1	0	33	29				
PLK1	5347	broad.mit.edu	37	16	23700935	23700935	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr16:23700935C>T	ENST00000300093.4	+	9	1657	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	516	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GACCTGGTTCCGCACCCGCAG	0.632																																					Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1546-1548)Cgc>Tgc		polo-like kinase 1							33.0	33.0	33.0					16																	23700935		2197	4300	6497	SO:0001583	missense	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23700935C>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1546C>T	16.37:g.23700935C>T	ENSP00000300093:p.Arg516Cys						p.R516C	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	9	1657	+			516			POLO box 2.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.1546C>T	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319559	0.81469	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.38722	1.12	5.26	5.26	0.73747	POLO box duplicated domain (2);	0.048955	0.85682	D	0.000000	T	0.72020	0.3409	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79237	-0.1886	10	0.87932	D	0	-14.3743	11.4659	0.50239	0.1797:0.8202:0.0:0.0	.	516	P53350	PLK1_HUMAN	C	516;419	ENSP00000300093:R516C	ENSP00000300093:R516C	R	+	1	0	PLK1	23608436	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.593000	0.46180	2.466000	0.83321	0.557000	0.71058	CGC		0.632	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		21	29	0	0	0	1	0	21	29				
PSMA1	5682	broad.mit.edu	37	11	14535162	14535162	+	Silent	SNP	T	T	C	rs184210551	byFrequency	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:14535162T>C	ENST00000396394.2	-	7	894	c.498A>G	c.(496-498)caA>caG	p.Q166Q	PSMA1_ENST00000524606.1_5'Flank|PSMA1_ENST00000419365.2_Missense_Mutation_p.N147S|PSMA1_ENST00000418988.2_Silent_p.Q172Q|PSMA1_ENST00000555531.1_Missense_Mutation_p.N147S|PSMA1_ENST00000396393.1_Silent_p.Q166Q|PSMA1_ENST00000530457.1_Silent_p.Q141Q	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	166					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TACGAGCTGATTGGGAACGGG	0.388													T|||	5	0.000998403	0.0	0.0	5008	,	,		13484	0.004		0.0	False		,,,				2504	0.001					ENST00000555531.1																			0				large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(439-441)aAt>aGt		proteasome (prosome, macropain) subunit, alpha type, 1							67.0	68.0	68.0					11																	14535162		2200	4294	6494	SO:0001819	synonymous_variant	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14535162T>C	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.498A>G	11.37:g.14535162T>C						PSMA1_ENST00000396394.2_Silent_p.Q166Q|PSMA1_ENST00000418988.2_Silent_p.Q172Q|PSMA1_ENST00000530457.1_Silent_p.Q141Q|PSMA1_ENST00000396393.1_Silent_p.Q166Q|PSMA1_ENST00000419365.2_Missense_Mutation_p.N147S	p.N147S			P25786	PSA1_HUMAN			6	484	-			0					A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	c.440A>G	CCDS7816.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	11.89	1.774448	0.31411	.	.	ENSG00000129084	ENST00000419365	T	0.47177	0.85	5.98	-12.0	0.00017	.	.	.	.	.	T	0.22322	0.0538	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.50013	-0.8877	6	0.02654	T	1	-12.7298	19.7619	0.96323	0.0:0.417:0.0:0.583	.	.	.	.	S	147	ENSP00000392242:N147S	ENSP00000392242:N147S	N	-	2	0	PSMA1	14491738	0.007000	0.16637	0.104000	0.21259	0.103000	0.19146	-1.032000	0.03574	-3.010000	0.00273	-1.934000	0.00508	AAT		0.388	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		32	31	0	0	0	1	0	32	31				
MEOX2	4223	broad.mit.edu	37	7	15725735	15725735	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:15725735G>C	ENST00000262041.5	-	1	702	c.293C>G	c.(292-294)tCt>tGt	p.S98C	AC005550.5_ENST00000438923.1_lincRNA|AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	98					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGGTGGGGAAGACATCTGCGG	0.667																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	ENST00000262041.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(292-294)tCt>tGt		mesenchyme homeobox 2							19.0	21.0	20.0					7																	15725735		2196	4294	6490	SO:0001583	missense	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725735G>C		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.293C>G	7.37:g.15725735G>C	ENSP00000262041:p.Ser98Cys						p.S98C	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	702	-			98					B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.293C>G	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893510	0.52121	.	.	ENSG00000106511	ENST00000262041	D	0.90261	-2.64	5.33	5.33	0.75918	.	0.201411	0.44688	D	0.000428	D	0.88213	0.6376	L	0.36672	1.1	0.48288	D	0.999622	B	0.28512	0.214	B	0.34038	0.174	D	0.85192	0.1010	10	0.37606	T	0.19	-11.1025	19.0242	0.92926	0.0:0.0:1.0:0.0	.	98	P50222	MEOX2_HUMAN	C	98	ENSP00000262041:S98C	ENSP00000262041:S98C	S	-	2	0	MEOX2	15692260	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.707000	0.91367	2.486000	0.83907	0.655000	0.94253	TCT		0.667	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		7	12	0	0	0	1	0	7	12				
MUC2	4583	broad.mit.edu	37	11	1092954	1092954	+	Splice_Site	SNP	G	G	A	rs56352686		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:1092954G>A	ENST00000359061.5	+	30	4776	c.4776G>A	c.(4774-4776)acG>acA	p.T1592T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000441003.2_Silent_p.T1591T|MUC2_ENST00000361558.6_Intron			Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccaccactacggtgaccccaa	0.627																																						ENST00000359061.5																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.e30+1		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						52.0	85.0	74.0					11																	1092954		1812	3296	5108	SO:0001630	splice_region_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1092954G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000359061.5:c.4776+1G>A	11.37:g.1092954G>A						MUC2_ENST00000441003.2_Silent_p.T1591T|MUC2_ENST00000361558.6_Intron	p.T1592_splice			Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	30	4776	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1594			Approximate repeats.		Q14878	Splice_Site	SNP	ENST00000359061.5	37	c.4776_splice																																																																																					0.627	MUC2-202	KNOWN	basic	protein_coding	protein_coding		NM_002457	Silent	3	6	0	0	0	1	0	3	6				
FKBP3	2287	broad.mit.edu	37	14	45590702	45590702	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:45590702G>A	ENST00000216330.3	-	5	850	c.440C>T	c.(439-441)aCt>aTt	p.T147I	FKBP3_ENST00000396062.3_Missense_Mutation_p.T147I			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	147	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TTGAATATTAGTATCAAAAAC	0.363																																						ENST00000216330.3																			0				NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(439-441)aCt>aTt		FK506 binding protein 3, 25kDa							89.0	79.0	82.0					14																	45590702		2202	4298	6500	SO:0001583	missense	2287				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	g.chr14:45590702G>A	M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"""FK506-binding protein 3 (25kD)"""			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.440C>T	14.37:g.45590702G>A	ENSP00000216330:p.Thr147Ile					FKBP3_ENST00000396062.3_Missense_Mutation_p.T147I	p.T147I			Q00688	FKBP3_HUMAN			5	850	-			147			PPIase FKBP-type.		B2R4Q9|Q14317	Missense_Mutation	SNP	ENST00000216330.3	37	c.440C>T	CCDS9683.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570587	0.86542	.	.	ENSG00000100442	ENST00000216330;ENST00000396062	T;T	0.56103	0.48;0.48	6.16	6.16	0.99307	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.047041	0.85682	D	0.000000	T	0.75517	0.3860	H	0.96691	3.865	0.58432	D	0.999998	D	0.54207	0.965	P	0.49708	0.62	D	0.83773	0.0221	10	0.87932	D	0	-2.6848	16.6929	0.85326	0.0:0.1294:0.8706:0.0	.	147	Q00688	FKBP3_HUMAN	I	147	ENSP00000216330:T147I;ENSP00000379374:T147I	ENSP00000216330:T147I	T	-	2	0	FKBP3	44660452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.544000	0.82117	2.937000	0.99478	0.650000	0.86243	ACT		0.363	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276796.1	NM_002013		5	35	0	0	0	1	0	5	35				
SERPINB7	8710	broad.mit.edu	37	18	61449729	61449729	+	Silent	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr18:61449729G>T	ENST00000398019.2	+	2	448	c.123G>T	c.(121-123)ctG>ctT	p.L41L	SERPINB7_ENST00000336429.2_Silent_p.L41L|SERPINB7_ENST00000546027.1_Silent_p.L41L|SERPINB7_ENST00000540675.1_Silent_p.L41L	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	41					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCCTGGCCCTGGTCCGCTTGG	0.473																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(121-123)ctG>ctT		serpin peptidase inhibitor, clade B (ovalbumin), member 7							112.0	94.0	100.0					18																	61449729		2203	4300	6503	SO:0001819	synonymous_variant	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61449729G>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.123G>T	18.37:g.61449729G>T						SERPINB7_ENST00000336429.2_Silent_p.L41L|SERPINB7_ENST00000546027.1_Silent_p.L41L|SERPINB7_ENST00000540675.1_Silent_p.L41L	p.L41L	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			2	448	+		Esophageal squamous(42;0.129)	41					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Silent	SNP	ENST00000398019.2	37	c.123G>T	CCDS11988.1																																																																																				0.473	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		19	68	1	0	1.67942e-08	1	1.87571e-08	19	68				
ANKRD13A	88455	broad.mit.edu	37	12	110454197	110454197	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:110454197C>T	ENST00000261739.4	+	4	525	c.359C>T	c.(358-360)cCg>cTg	p.P120L	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	120						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CTTCAGGCTCCGGATTTCTAT	0.433																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(358-360)cCg>cTg		ankyrin repeat domain 13A							130.0	130.0	130.0					12																	110454197		2203	4300	6503	SO:0001583	missense	88455							g.chr12:110454197C>T	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.359C>T	12.37:g.110454197C>T	ENSP00000261739:p.Pro120Leu					ANKRD13A_ENST00000550404.1_3'UTR	p.P120L	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN			4	525	+			120					O60736	Missense_Mutation	SNP	ENST00000261739.4	37	c.359C>T	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076089	0.94000	.	.	ENSG00000076513	ENST00000261739	T	0.59364	0.27	5.6	5.6	0.85130	.	0.050747	0.85682	D	0.000000	T	0.73194	0.3556	M	0.83223	2.63	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.53760	0.669;0.734;0.734	T	0.76969	-0.2762	10	0.56958	D	0.05	-0.2834	18.5973	0.91234	0.0:1.0:0.0:0.0	.	120;120;120	B4DYP5;Q3ZTS7;Q8IZ07	.;.;AN13A_HUMAN	L	120	ENSP00000261739:P120L	ENSP00000261739:P120L	P	+	2	0	ANKRD13A	108938580	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	5.823000	0.69272	2.650000	0.89964	0.655000	0.94253	CCG		0.433	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		38	18	0	0	0	1	0	38	18				
BCOR	54880	broad.mit.edu	37	X	39933118	39933118	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:39933118C>T	ENST00000378444.4	-	4	1709	c.1481G>A	c.(1480-1482)tGt>tAt	p.C494Y	BCOR_ENST00000378455.4_Missense_Mutation_p.C494Y|BCOR_ENST00000397354.3_Missense_Mutation_p.C494Y|BCOR_ENST00000342274.4_Missense_Mutation_p.C494Y	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	494					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATAGATAGCACAACCATTTCC	0.522			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(1480-1482)tGt>tAt		BCL6 corepressor							94.0	73.0	80.0					X																	39933118		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933118C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1481G>A	X.37:g.39933118C>T	ENSP00000367705:p.Cys494Tyr					BCOR_ENST00000378444.4_Missense_Mutation_p.C494Y|BCOR_ENST00000378455.4_Missense_Mutation_p.C494Y|BCOR_ENST00000397354.3_Missense_Mutation_p.C494Y	p.C494Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1843	-			494					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.1481G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894016	0.52121	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	5.77	5.77	0.91146	.	.	.	.	.	T	0.27419	0.0673	N	0.24115	0.695	0.39122	D	0.96167	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.998	T	0.09079	-1.0691	9	0.87932	D	0	-11.5385	18.9644	0.92689	0.0:1.0:0.0:0.0	.	494;494;494;494	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	Y	494	ENSP00000367716:C494Y;ENSP00000380512:C494Y;ENSP00000367705:C494Y;ENSP00000345923:C494Y;ENSP00000384485:C494Y	ENSP00000345923:C494Y	C	-	2	0	BCOR	39818062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.074000	0.64401	2.426000	0.82243	0.600000	0.82982	TGT		0.522	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		10	33	0	0	0	1	0	10	33				
LOC100129620	100129620	broad.mit.edu	37	1	99474094	99474094	+	RNA	DEL	A	A	-	rs531849287|rs57656522	byFrequency	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:99474094delA	ENST00000425113.1	+	0	370					NR_033940.1																						AACAGCAACTAAAAAAAAAAA	0.353													|||unknown(HR)	1745	0.348442	0.32	0.3112	5008	,	,		17655	0.4415		0.3608	False		,,,				2504	0.3047					ENST00000425113.1																			0																																																			0							g.chr1:99474094delA																													1.37:g.99474094delA								NR_033940.1						0	370	+									RNA	DEL	ENST00000425113.1	37																																																																																						0.353	RP5-896L10.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000029675.2			4	5						4	5	---	---	---	---
MUC20	200958	broad.mit.edu	37	3	195452664	195452664	+	Frame_Shift_Del	DEL	C	C	-	rs529014403	byFrequency	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr3:195452664delC	ENST00000447234.2	+	2	1316	c.1190delC	c.(1189-1191)accfs	p.T397fs	MUC20_ENST00000320736.6_Frame_Shift_Del_p.T226fs|MUC20_ENST00000436408.1_Frame_Shift_Del_p.T397fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.T362fs	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	397	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCAGTCATCACCCCCTCATGG	0.587													cccca|CCCCC|CCCC|complex_deletion	91	0.0181709	0.0113	0.0317	5008	,	,		25286	0.0		0.0477	False		,,,				2504	0.0061					ENST00000320736.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(676-678)acfs		mucin 20, cell surface associated			,	39,2389		2,35,1177	3.0	3.0	3.0		,	-0.2	0.0	3		3	243,4923		47,149,2387	no	intron,intron	MUC20	NM_152673.2,NM_001098516.1	,	49,184,3564	A1A1,A1R,RR		4.7038,1.6063,3.7135	,	,	195452664	282,7312	1585	3449	5034	SO:0001589	frameshift_variant	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195452664delC	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1190delC	3.37:g.195452664delC	ENSP00000414350:p.Thr397fs					MUC20_ENST00000436408.1_Frame_Shift_Del_p.T397fs|MUC20_ENST00000447234.2_Frame_Shift_Del_p.T397fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.T362fs	p.T226fs	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	803	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	397		Missing.	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Frame_Shift_Del	DEL	ENST00000447234.2	37	c.677delC																																																																																					0.587	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		4	7						4	7	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66464851	66464851	+	lincRNA	DEL	A	A	-	rs201011437|rs372621619		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr9:66464851delA	ENST00000424345.1	+	0	224																											ACACAGTTTTACAAATTTTAG	0.408																																						ENST00000424345.1																			0																																																			0							g.chr9:66464851delA																													9.37:g.66464851delA														0	224	+									RNA	DEL	ENST00000424345.1	37																																																																																						0.408	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			2	4						2	4	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89720780	89720780	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr10:89720780delA	ENST00000371953.3	+	8	2288	c.931delA	c.(931-933)aatfs	p.N311fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	311	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCGTGCAGATAATGACAAGGA	0.348		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		50	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(931-933)atfs		phosphatase and tensin homolog							104.0	102.0	103.0					10																	89720780		2203	4299	6502	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720780delA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.931delA	10.37:g.89720780delA	ENSP00000361021:p.Asn311fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.N311fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2288	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	311			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.931delA	CCDS31238.1																																																																																				0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		33	46						33	46	---	---	---	---
LOC101927708	101927708	broad.mit.edu	37	11	3578348	3578348	+	RNA	DEL	C	C	-	rs199788757	byFrequency	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:3578348delC	ENST00000527970.1	-	0	285				AC127526.1_ENST00000408092.1_RNA																							CCCTTTATCACCCCTTCCCTT	0.453													|||unknown(ALL_OTHER_Ns)	37	0.00738818	0.0	0.0014	5008	,	,		20166	0.0		0.0149	False		,,,				2504	0.0215					ENST00000527970.1																			0																																																			0							g.chr11:3578348delC																													11.37:g.3578348delC														0	285	-									RNA	DEL	ENST00000527970.1	37																																																																																						0.453	RP13-726E6.2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000392273.1			4	4						4	4	---	---	---	---
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs74332804		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554				TPTE2P6_ENST00000440905.1_RNA																							AAAATGGGAGGTTTTTTTAGGG	0.411																																						ENST00000453498.1																			0																																																			0							g.chr13:25157747_25157748insT																													13.37:g.25157754_25157754dupT														0	554	+									RNA	INS	ENST00000453498.1	37																																																																																						0.411	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	5						3	5	---	---	---	---
PHF23	79142	broad.mit.edu	37	17	7142121	7142121	+	Intron	DEL	G	G	-			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:7142121delG	ENST00000320316.3	-	1	261				PHF23_ENST00000571362.1_Intron|PHF23_ENST00000454255.2_Frame_Shift_Del_p.P2fs|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000576955.1_Intron	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23								zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GACAATCACCGGGCATTCTCC	0.622																																						ENST00000454255.2																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(4-6)ccfs		PHD finger protein 23																																				SO:0001627	intron_variant	79142						zinc ion binding	g.chr17:7142121delG	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.34+443C>-	17.37:g.7142121delG						PHF23_ENST00000576955.1_Intron|PHF23_ENST00000320316.3_Intron|PHF23_ENST00000571362.1_Intron	p.P2fs			Q9BUL5	PHF23_HUMAN			1	128	-			0					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Frame_Shift_Del	DEL	ENST00000320316.3	37	c.6delC	CCDS42250.1																																																																																				0.622	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		2	4						2	4	---	---	---	---
