#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
ARHGAP4	393	broad.mit.edu	37	X	153175625	153175625	+	Splice_Site	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:153175625C>T	ENST00000350060.5	-	17	2197	c.2156G>A	c.(2155-2157)gGg>gAg	p.G719E	ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000370028.3_Splice_Site_p.G759E|ARHGAP4_ENST00000393721.1_Splice_Site_p.G541E|ARHGAP4_ENST00000537206.1_Splice_Site_p.G696E|ARHGAP4_ENST00000370016.1_Splice_Site_p.G698E	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	719					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGTGTACCCCAGGCAGCT	0.677																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.e18+1		Rho GTPase activating protein 4							22.0	25.0	24.0					X																	153175625		2199	4292	6491	SO:0001630	splice_region_variant	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153175625C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.2156+1G>A	X.37:g.153175625C>T						ARHGAP4_ENST00000370016.1_Splice_Site_p.G698_splice|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000350060.5_Splice_Site_p.G719_splice|ARHGAP4_ENST00000393721.1_Splice_Site_p.G541_splice|ARHGAP4_ENST00000537206.1_Splice_Site_p.G696_splice	p.G759_splice	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			18	2333	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		719			SH3.		Q14144|Q86UY3	Splice_Site	SNP	ENST00000350060.5	37	c.2276_splice	CCDS14736.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.38|14.38	2.518357|2.518357	0.44763|0.44763	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206|ENST00000442172	T;T;T;T;T|T	0.10005|0.05580	2.94;2.94;2.94;2.92;2.94|3.42	4.35|4.35	2.51|2.51	0.30379|0.30379	Src homology-3 domain (1);|.	0.184105|0.184105	0.26642|0.26642	N|N	0.023242|0.023242	T|T	0.12390|0.12390	0.0301|0.0301	M|M	0.73962|0.73962	2.25|2.25	0.24709|0.24709	N|N	0.993215|0.993215	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.63877|.	0.919;0.919|.	T|T	0.04140|0.04140	-1.0974|-1.0974	9|7	.|.	.|.	.|.	.|.	6.6875|6.6875	0.23154|0.23154	0.0:0.7496:0.0:0.2504|0.0:0.7496:0.0:0.2504	.|.	759;719|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	E|R	541;759;719;698;696|208	ENSP00000377322:G541E;ENSP00000359045:G759E;ENSP00000203786:G719E;ENSP00000359033:G698E;ENSP00000444169:G696E|ENSP00000408656:G208R	.|.	G|G	-|-	2|1	0|0	ARHGAP4|ARHGAP4	152828819|152828819	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.642000|0.642000	0.38348|0.38348	1.963000|1.963000	0.40452|0.40452	0.779000|0.779000	0.33543|0.33543	0.592000|0.592000	0.82586|0.82586	GGG|GGG		0.677	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666	Missense_Mutation	26	26	0	0	0	1	0	26	26				
HLA-DQA1	3117	broad.mit.edu	37	6	32609250	32609250	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:32609250G>A	ENST00000343139.5	+	2	348	c.246G>A	c.(244-246)ccG>ccA	p.P82P	HLA-DQA1_ENST00000395363.1_Silent_p.P82P|HLA-DQA1_ENST00000374949.2_Silent_p.P82P	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	81	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTTTTGACCCGCAGGGTGCAC	0.502																																						ENST00000343139.5																			0				NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(244-246)ccG>ccA		major histocompatibility complex, class II, DQ alpha 1							87.0	78.0	81.0					6																	32609250		2142	4105	6247	SO:0001819	synonymous_variant	3117				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32609250G>A		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.246G>A	6.37:g.32609250G>A						HLA-DQA1_ENST00000395363.1_Silent_p.P82P|HLA-DQA1_ENST00000374949.2_Silent_p.P82P	p.P82P	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN			2	348	+			81			Alpha-1.		O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Silent	SNP	ENST00000343139.5	37	c.246G>A	CCDS4752.1	.	.	.	.	.	.	.	.	.	.	.	3.320	-0.138855	0.06669	.	.	ENSG00000196735	ENST00000486548	.	.	.	3.97	-7.95	0.01148	.	.	.	.	.	T	0.16981	0.0408	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.38714	-0.9648	4	.	.	.	.	1.466	0.02406	0.4654:0.0976:0.1596:0.2774	.	.	.	.	H	55	.	.	R	+	2	0	HLA-DQA1	32717228	0.014000	0.17966	0.124000	0.21820	0.001000	0.01503	-1.610000	0.02064	-1.841000	0.01183	-2.644000	0.00150	CGC		0.502	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		20	13	0	0	0	1	0	20	13				
PHOX2A	401	broad.mit.edu	37	11	71954958	71954958	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:71954958C>T	ENST00000298231.5	-	1	262	c.91G>A	c.(91-93)Ggc>Agc	p.G31S	PHOX2A_ENST00000544057.1_Intron	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	31					dopaminergic neuron differentiation (GO:0071542)|locus ceruleus development (GO:0021703)|midbrain development (GO:0030901)|noradrenergic neuron differentiation (GO:0003357)|oculomotor nerve formation (GO:0021623)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of respiratory gaseous exchange (GO:0043576)|somatic motor neuron differentiation (GO:0021523)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|trochlear nerve formation (GO:0021642)	nuclear chromatin (GO:0000790)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TGGAAGCCGCCGGGCTGGCTG	0.716																																						ENST00000298231.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						c.(91-93)Ggc>Agc		paired-like homeobox 2a							3.0	4.0	4.0					11																	71954958		1692	3694	5386	SO:0001583	missense	401				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:71954958C>T	AF022722	CCDS8214.1	11q13.4	2014-09-04	2007-07-12	2003-02-14	ENSG00000165462	ENSG00000165462		"""Homeoboxes / PRD class"""	691	protein-coding gene	gene with protein product		602753	"""aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive"", ""paired-like (aristaless) homeobox 2a"""	ARIX, FEOM2		8661014, 11600883	Standard	NM_005169		Approved	PMX2A, CFEOM2	uc001osh.4	O14813	OTTHUMG00000167899	ENST00000298231.5:c.91G>A	11.37:g.71954958C>T	ENSP00000298231:p.Gly31Ser					PHOX2A_ENST00000544057.1_Intron	p.G31S	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN			1	262	-			31					A8K3N0|Q8IVZ2	Missense_Mutation	SNP	ENST00000298231.5	37	c.91G>A	CCDS8214.1	.	.	.	.	.	.	.	.	.	.	c	8.694	0.908106	0.17833	.	.	ENSG00000165462	ENST00000298231	D	0.89196	-2.48	4.41	3.41	0.39046	.	.	.	.	.	T	0.66655	0.2811	N	0.03324	-0.35	0.26923	N	0.966629	B	0.30686	0.29	B	0.17722	0.019	T	0.62760	-0.6786	9	0.02654	T	1	.	5.7189	0.17976	0.0:0.69:0.2014:0.1086	.	31	O14813	PHX2A_HUMAN	S	31	ENSP00000298231:G31S	ENSP00000298231:G31S	G	-	1	0	PHOX2A	71632606	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	2.246000	0.43142	2.164000	0.68074	0.550000	0.68814	GGC		0.716	PHOX2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396885.1	NM_005169		4	11	0	0	0	1	0	4	11				
DENND2C	163259	broad.mit.edu	37	1	115143531	115143531	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:115143531G>A	ENST00000393274.1	-	14	2491	c.1866C>T	c.(1864-1866)taC>taT	p.Y622Y	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Silent_p.Y565Y|DENND2C_ENST00000393277.1_Silent_p.Y622Y	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	622	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCATGAATGGGTAAACAAGGG	0.418																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(1864-1866)taC>taT		DENN/MADD domain containing 2C							119.0	116.0	117.0					1																	115143531		2203	4300	6503	SO:0001819	synonymous_variant	163259							g.chr1:115143531G>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1866C>T	1.37:g.115143531G>A						DENND2C_ENST00000393277.1_Silent_p.Y622Y|DENND2C_ENST00000393276.3_Silent_p.Y565Y|DENND2C_ENST00000481894.1_5'UTR	p.Y622Y	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	2491	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	622			DENN.		B1AL26|Q5TCX6|Q6P3R3	Silent	SNP	ENST00000393274.1	37	c.1866C>T	CCDS58018.1																																																																																				0.418	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		24	43	0	0	0	1	0	24	43				
ZAN	7455	broad.mit.edu	37	7	100350456	100350456	+	RNA	SNP	C	C	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:100350456C>A	ENST00000348028.3	+	0	2893				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P910T(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCATCTCCCCAGAAAAACC	0.498																																						ENST00000542585.1																			2	Substitution - Missense(2)	p.P910T(2)	lung(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							301.0	352.0	336.0					7																	100350456		1867	4094	5961			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350456C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350456C>A						ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2876	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	2.768	-0.256356	0.05829	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.60040	0.22;0.22;0.22	3.73	-2.37	0.06643	.	.	.	.	.	T	0.16854	0.0405	N	0.00152	-1.975	0.09310	N	0.999999	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.29518	-1.0009	9	0.39692	T	0.17	.	6.5397	0.22372	0.403:0.4521:0.0:0.1449	.	910;910	F5H0T8;Q9Y493	.;ZAN_HUMAN	T	910	ENSP00000445943:P910T;ENSP00000445091:P910T;ENSP00000444427:P910T	ENSP00000423579:P910T	P	+	1	0	ZAN	100188392	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.441000	0.02409	-0.158000	0.11040	-0.346000	0.07831	CCA		0.498	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	217	1	0	0.184627	1	0.184627	5	217				
ACSL4	2182	broad.mit.edu	37	X	108911498	108911498	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:108911498G>A	ENST00000469796.2	-	11	1666	c.1270C>T	c.(1270-1272)Ctg>Ttg	p.L424L	ACSL4_ENST00000348502.6_Silent_p.L383L|ACSL4_ENST00000340800.2_Silent_p.L424L			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	424					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	TTTTTAAACAGTAACCTTAAT	0.438																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1270-1272)Ctg>Ttg		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						60.0	54.0	56.0					X																	108911498		2203	4300	6503	SO:0001819	synonymous_variant	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108911498G>A	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1270C>T	X.37:g.108911498G>A						ACSL4_ENST00000348502.6_Silent_p.L383L|ACSL4_ENST00000469796.2_Silent_p.L424L	p.L424L	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			12	1774	-			424					D3DUY2|O60848|O60849|Q5JWV8	Silent	SNP	ENST00000469796.2	37	c.1270C>T	CCDS14548.1																																																																																				0.438	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		35	36	0	0	0	1	0	35	36				
CASP4	837	broad.mit.edu	37	11	104822679	104822679	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:104822679G>A	ENST00000444739.2	-	3	1226	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	CASP4_ENST00000531333.1_Intron|CASP4_ENST00000393150.3_Missense_Mutation_p.L50F	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	106					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CAAAGCTTGAGGGCATCTGTA	0.413																																						ENST00000444739.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23						c.(316-318)Ctc>Ttc		caspase 4, apoptosis-related cysteine peptidase							118.0	111.0	113.0					11																	104822679		2202	4299	6501	SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104822679G>A	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.316C>T	11.37:g.104822679G>A	ENSP00000388566:p.Leu106Phe					CASP4_ENST00000393150.3_Missense_Mutation_p.L50F|CASP4_ENST00000531333.1_Intron	p.L106F	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	3	1226	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	106					A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.316C>T	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576514	0.28092	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546;ENST00000417440	T;T;T	0.47869	0.83;0.83;0.83	4.03	4.03	0.46877	.	0.484180	0.19615	N	0.110056	T	0.69305	0.3096	M	0.84948	2.725	0.41574	D	0.988704	D;D;P	0.89917	1.0;0.969;0.749	D;P;B	0.87578	0.998;0.735;0.366	T	0.72472	-0.4283	10	0.49607	T	0.09	.	11.5057	0.50466	0.0:0.0:1.0:0.0	.	106;106;106	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	F	106;50;59;106	ENSP00000388566:L106F;ENSP00000376857:L50F;ENSP00000401673:L106F	ENSP00000347741:L59F	L	-	1	0	CASP4	104327889	0.960000	0.32886	0.874000	0.34290	0.111000	0.19643	1.639000	0.37176	2.060000	0.61445	0.591000	0.81541	CTC		0.413	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		18	35	0	0	0	1	0	18	35				
MED12	9968	broad.mit.edu	37	X	70338671	70338671	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:70338671G>T	ENST00000374080.3	+	1	99	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	MED12_ENST00000333646.6_Missense_Mutation_p.D23Y|MED12_ENST00000374102.1_Missense_Mutation_p.D23Y			Q93074	MED12_HUMAN	mediator complex subunit 12	23					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.D23Y(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGGCCTCCCGATGTTTACCC	0.677			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		2	Substitution - Missense(2)	p.D23Y(2)	endometrium(2)	breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(67-69)Gat>Tat		mediator complex subunit 12							13.0	14.0	14.0					X																	70338671		1798	4039	5837	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70338671G>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.67G>T	X.37:g.70338671G>T	ENSP00000363193:p.Asp23Tyr					MED12_ENST00000374102.1_Missense_Mutation_p.D23Y|MED12_ENST00000374080.3_Missense_Mutation_p.D23Y	p.D23Y	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			1	266	+	Renal(35;0.156)		23					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.67G>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	31	5.063784	0.93898	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080	T;T;T	0.73363	-0.74;-0.72;-0.73	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000001	D	0.84705	0.5531	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.87205	0.2243	10	0.87932	D	0	-12.2737	16.5123	0.84289	0.0:0.0:1.0:0.0	.	23;23;23	F5H3Y1;Q93074-3;Q93074	.;.;MED12_HUMAN	Y	23	ENSP00000333125:D23Y;ENSP00000363215:D23Y;ENSP00000363193:D23Y	ENSP00000333125:D23Y	D	+	1	0	MED12	70255396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.367000	0.90113	2.007000	0.58848	0.431000	0.28591	GAT		0.677	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		16	24	1	0	0.000566183	1	0.000585485	16	24				
HTR5A	3361	broad.mit.edu	37	7	154863078	154863078	+	Missense_Mutation	SNP	G	G	A	rs191160373	byFrequency	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:154863078G>A	ENST00000287907.2	+	1	1045	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_De_novo_Start_InFrame|HTR5A-AS1_ENST00000543018.1_De_novo_Start_InFrame	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	157					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CCGCAAGTGCGTCTCCAACGT	0.622													G|||	4	0.000798722	0.0	0.0	5008	,	,		19174	0.004		0.0	False		,,,				2504	0.0					ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(469-471)Gtc>Atc		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	102.0	74.0	84.0		469	-2.1	0.0	7		84	0,8600		0,0,4300	yes	missense	HTR5A	NM_024012.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	157/358	154863078	1,13005	2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863078G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.469G>A	7.37:g.154863078G>A	ENSP00000287907:p.Val157Ile					AC093726.4_ENST00000543018.1_De_novo_Start_InFrame|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_De_novo_Start_InFrame	p.V157I	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1045	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	157					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.469G>A	CCDS5936.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	2.047	-0.418576	0.04766	2.27E-4	0.0	ENSG00000157219	ENST00000287907	T	0.38560	1.13	4.75	-2.06	0.07298	GPCR, rhodopsin-like superfamily (1);	0.275476	0.39909	N	0.001224	T	0.22551	0.0544	N	0.20483	0.58	0.24015	N	0.996165	B	0.09022	0.002	B	0.08055	0.003	T	0.19128	-1.0315	10	0.19147	T	0.46	.	11.5903	0.50941	0.692:0.0:0.308:0.0	.	157	P47898	5HT5A_HUMAN	I	157	ENSP00000287907:V157I	ENSP00000287907:V157I	V	+	1	0	HTR5A	154494011	0.998000	0.40836	0.003000	0.11579	0.099000	0.18886	1.459000	0.35234	-0.570000	0.06022	-0.797000	0.03246	GTC		0.622	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		35	67	0	0	0	1	0	35	67				
ZNF470	388566	broad.mit.edu	37	19	57089191	57089191	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:57089191G>A	ENST00000330619.8	+	6	2080	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R465H	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TTCAGCCATCGTGGGTCTCTT	0.443																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1393-1395)cGt>cAt		zinc finger protein 470							81.0	87.0	85.0					19																	57089191		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089191G>A	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1394G>A	19.37:g.57089191G>A	ENSP00000333223:p.Arg465His					ZNF470_ENST00000391709.3_Missense_Mutation_p.R465H|ZNF470_ENST00000601902.1_Intron	p.R465H	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2080	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	465					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1394G>A	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	8.334	0.827228	0.16749	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.07800	3.16;3.16	4.37	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.21282	0.65	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.45338	-0.9268	9	0.13108	T	0.6	.	6.2673	0.20934	0.4948:0.0:0.5051:0.0	.	465	Q6ECI4	ZN470_HUMAN	H	465	ENSP00000375590:R465H;ENSP00000333223:R465H	ENSP00000333223:R465H	R	+	2	0	ZNF470	61781003	0.000000	0.05858	0.976000	0.42696	0.936000	0.57629	-0.847000	0.04331	0.771000	0.33359	0.650000	0.86243	CGT		0.443	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		34	63	0	0	0	1	0	34	63				
DMP1	1758	broad.mit.edu	37	4	88584263	88584263	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr4:88584263G>A	ENST00000339673.6	+	6	1432	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.E429K|RP11-742B18.1_ENST00000506814.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	445					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAGTCAGAGCGAGGAAAGCCA	0.542																																						ENST00000339673.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(1333-1335)Gag>Aag		dentin matrix acidic phosphoprotein 1							70.0	65.0	66.0					4																	88584263		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88584263G>A	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1333G>A	4.37:g.88584263G>A	ENSP00000340935:p.Glu445Lys					RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.E429K	p.E445K	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1432	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	445					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.1333G>A	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	9.257	1.042249	0.19748	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.44482	0.92;0.92	5.62	-0.673	0.11373	.	1.142780	0.06457	N	0.728746	T	0.34629	0.0904	L	0.45352	1.415	0.09310	N	1	B;B	0.18863	0.025;0.031	B;B	0.17722	0.007;0.019	T	0.35475	-0.9787	10	0.51188	T	0.08	0.2844	7.5567	0.27829	0.2321:0.4626:0.3053:0.0	.	429;445	Q13316-2;Q13316	.;DMP1_HUMAN	K	445;429	ENSP00000340935:E445K;ENSP00000282479:E429K	ENSP00000282479:E429K	E	+	1	0	DMP1	88803287	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-0.039000	0.12124	-0.263000	0.09378	0.467000	0.42956	GAG		0.542	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			70	17	0	0	0	1	0	70	17				
ALPK2	115701	broad.mit.edu	37	18	56204502	56204502	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr18:56204502C>T	ENST00000361673.3	-	5	3130	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	973						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCTGGTGTGGCTGTGGTGTCT	0.458																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(2917-2919)Gcc>Acc		alpha-kinase 2							90.0	89.0	89.0					18																	56204502		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56204502C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2917G>A	18.37:g.56204502C>T	ENSP00000354991:p.Ala973Thr					RP11-1151B14.4_ENST00000591360.1_RNA	p.A973T	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	3130	-			973					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.2917G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141552	0.57044	.	.	ENSG00000198796	ENST00000361673	T	0.42513	0.97	5.57	5.57	0.84162	.	1.764430	0.03231	N	0.178893	T	0.35770	0.0943	N	0.14661	0.345	0.09310	N	1	B;B	0.19817	0.016;0.039	B;B	0.18561	0.022;0.014	T	0.27872	-1.0061	10	0.45353	T	0.12	-4.0629	15.0658	0.71992	0.0:1.0:0.0:0.0	.	973;973	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	T	973	ENSP00000354991:A973T	ENSP00000354991:A973T	A	-	1	0	ALPK2	54355482	0.101000	0.21875	0.053000	0.19242	0.194000	0.23727	2.282000	0.43461	2.630000	0.89119	0.591000	0.81541	GCC		0.458	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		4	54	0	0	0	1	0	4	54				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	21	1	0	0.014758	1	0.0150896	4	21				
ATP10A	57194	broad.mit.edu	37	15	25928532	25928532	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr15:25928532C>T	ENST00000356865.6	-	17	3504	c.3393G>A	c.(3391-3393)tcG>tcA	p.S1131S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1131					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGGAAGTGACGAGAAGAGCA	0.527																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(3391-3393)tcG>tcA		ATPase, class V, type 10A							83.0	78.0	80.0					15																	25928532		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25928532C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3393G>A	15.37:g.25928532C>T							p.S1131S	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	17	3504	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1131					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.3393G>A	CCDS32178.1																																																																																				0.527	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		4	63	0	0	0	1	0	4	63				
DGKH	160851	broad.mit.edu	37	13	42763366	42763366	+	Silent	SNP	C	C	G	rs372414323		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:42763366C>G	ENST00000337343.4	+	15	1854	c.1833C>G	c.(1831-1833)gcC>gcG	p.A611A	DGKH_ENST00000379274.2_Silent_p.A475A|DGKH_ENST00000540693.1_Silent_p.A611A|DGKH_ENST00000261491.5_Silent_p.A611A|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Silent_p.A475A|DGKH_ENST00000538674.1_Silent_p.A366A	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	611					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CCCAGAAAGCCGTCAAACCAA	0.458																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1423-1425)gcC>gcG		diacylglycerol kinase, eta							93.0	87.0	89.0					13																	42763366		2203	4300	6503	SO:0001819	synonymous_variant	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42763366C>G	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1833C>G	13.37:g.42763366C>G						DGKH_ENST00000261491.4_Silent_p.A611A|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Silent_p.A475A|DGKH_ENST00000540693.1_Silent_p.A611A|DGKH_ENST00000538674.1_Silent_p.A366A|DGKH_ENST00000337343.4_Silent_p.A611A	p.A475A			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	15	1854	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	611					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Silent	SNP	ENST00000337343.4	37	c.1425C>G	CCDS9381.1																																																																																				0.458	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		22	59	0	0	0	1	0	22	59				
NOS1	4842	broad.mit.edu	37	12	117723945	117723945	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:117723945C>T	ENST00000338101.4	-	5	1258	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.S418S			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCACACAGCGCGAGGCATTCC	0.562																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1252-1254)tcG>tcA		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						130.0	131.0	130.0					12																	117723945		2168	4298	6466	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117723945C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1254G>A	12.37:g.117723945C>T						NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.S418S	p.S418S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	6	1939	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		418						Silent	SNP	ENST00000338101.4	37	c.1254G>A	CCDS55890.1																																																																																				0.562	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			31	55	0	0	0	1	0	31	55				
MAP1A	4130	broad.mit.edu	37	15	43820144	43820144	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr15:43820144G>A	ENST00000300231.5	+	4	6923	c.6473G>A	c.(6472-6474)cGa>cAa	p.R2158Q	MAP1A_ENST00000382031.1_Missense_Mutation_p.R2396Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2158Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2158					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGCCTGCCCGACCCAGTCTG	0.617																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(7186-7188)cGa>cAa		microtubule-associated protein 1A	Estramustine(DB01196)						82.0	90.0	87.0					15																	43820144		1991	4157	6148	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820144G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6473G>A	15.37:g.43820144G>A	ENSP00000300231:p.Arg2158Gln					MAP1A_ENST00000300231.5_Missense_Mutation_p.R2158Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2158Q	p.R2396Q			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	7218	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2158					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.7187G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167278	0.38315	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01725	4.67;4.68;4.68	4.9	3.97	0.46021	.	0.351137	0.16458	N	0.213534	T	0.03011	0.0089	L	0.36672	1.1	0.31132	N	0.70766	D	0.57571	0.98	P	0.48677	0.586	T	0.39663	-0.9603	10	0.36615	T	0.2	-1.9677	12.4154	0.55490	0.0:0.1698:0.8302:0.0	.	2158	P78559	MAP1A_HUMAN	Q	2396;2158;2158	ENSP00000371462:R2396Q;ENSP00000382380:R2158Q;ENSP00000300231:R2158Q	ENSP00000300231:R2158Q	R	+	2	0	MAP1A	41607436	0.879000	0.30193	1.000000	0.80357	0.995000	0.86356	1.838000	0.39211	1.244000	0.43870	0.655000	0.94253	CGA		0.617	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		89	87	0	0	0	1	0	89	87				
FAM161A	84140	broad.mit.edu	37	2	62067002	62067002	+	Silent	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:62067002A>G	ENST00000405894.3	-	3	1238	c.1137T>C	c.(1135-1137)taT>taC	p.Y379Y	FAM161A_ENST00000404929.1_Silent_p.Y379Y	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	379					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAAGGTTTCGATAGAGCTCTT	0.433																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1135-1137)taT>taC		family with sequence similarity 161, member A							101.0	103.0	102.0					2																	62067002		1931	4135	6066	SO:0001819	synonymous_variant	84140				response to stimulus|visual perception	centrosome		g.chr2:62067002A>G		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1137T>C	2.37:g.62067002A>G						FAM161A_ENST00000405894.3_Silent_p.Y379Y	p.Y379Y	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			3	1148	-			379					B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	c.1137T>C	CCDS42687.2																																																																																				0.433	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		51	42	0	0	0	1	0	51	42				
C2	717	broad.mit.edu	37	6	31913052	31913052	+	Missense_Mutation	SNP	G	G	C	rs147553278		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:31913052G>C	ENST00000299367.5	+	18	2453	c.2177G>C	c.(2176-2178)cGa>cCa	p.R726P	CFB_ENST00000425368.2_5'Flank|C2_ENST00000442278.2_Missense_Mutation_p.R594P|C2_ENST00000452323.2_Missense_Mutation_p.R512P|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.R480P|C2_ENST00000468407.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	726	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCGCCGCCACGAGACTTTCAC	0.587																																						ENST00000299367.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27						c.(2176-2178)cGa>cCa		complement component 2							79.0	84.0	82.0					6																	31913052		1511	2709	4220	SO:0001583	missense	717							g.chr6:31913052G>C		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.2177G>C	6.37:g.31913052G>C	ENSP00000299367:p.Arg726Pro					CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R594P|CFB_ENST00000456570.1_Intron|C2_ENST00000468407.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.R512P|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.R480P	p.R726P	NM_000063.4	NP_000054.2				LUAD - Lung adenocarcinoma(999;0.247)	18	2453	+		Ovarian(999;0.00965)						B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.2177G>C	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.70|18.70	3.680148|3.680148	0.68042|0.68042	.|.	.|.	ENSG00000166278|ENSG00000166278	ENST00000383177|ENST00000469372;ENST00000452323;ENST00000299367;ENST00000442278	.|T;T;T;T	.|0.19250	.|2.16;2.16;2.16;2.16	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	.|0.000000	.|0.32093	.|N	.|0.006582	T|T	0.44644|0.44644	0.1303|0.1303	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|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;1.0	T|T	0.48269|0.48269	-0.9050|-0.9050	5|10	.|0.87932	.|D	.|0	-8.7253|-8.7253	17.0642|17.0642	0.86555|0.86555	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|697;512;480;594;594;726	.|B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681	.|.;.;.;.;.;CO2_HUMAN	Q|P	500|480;512;726;594	.|ENSP00000418923:R480P;ENSP00000392322:R512P;ENSP00000299367:R726P;ENSP00000395683:R594P	.|ENSP00000299367:R726P	E|R	+|+	1|2	0|0	C2|C2	32021031|32021031	0.706000|0.706000	0.27856|0.27856	0.905000|0.905000	0.35620|0.35620	0.349000|0.349000	0.29174|0.29174	4.489000|4.489000	0.60309|0.60309	2.633000|2.633000	0.89246|0.89246	0.467000|0.467000	0.42956|0.42956	GAG|CGA		0.587	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			26	61	0	0	0	1	0	26	61				
RBM26	64062	broad.mit.edu	37	13	79911276	79911276	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:79911276A>C	ENST00000438737.2	-	19	3134	c.2694T>G	c.(2692-2694)ttT>ttG	p.F898L	RBM26_ENST00000267229.7_Missense_Mutation_p.F871L|RBM26_ENST00000438724.1_Missense_Mutation_p.F874L			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	898	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CGCTCTCCGTAAATGCAGAAA	0.507																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2692-2694)ttT>ttG		RNA binding motif protein 26							100.0	85.0	90.0					13																	79911276		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79911276A>C	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2694T>G	13.37:g.79911276A>C	ENSP00000387531:p.Phe898Leu					RBM26_ENST00000438724.1_Missense_Mutation_p.F874L|RBM26_ENST00000267229.7_Missense_Mutation_p.F871L	p.F898L			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	19	3134	-		Acute lymphoblastic leukemia(28;0.0279)	898			RRM 2.		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.2694T>G		.	.	.	.	.	.	.	.	.	.	A	17.75	3.465371	0.63513	.	.	ENSG00000139746	ENST00000449987;ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.52295	0.68;0.67	5.11	5.11	0.69529	RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	N	0.05012	-0.13	0.58432	D	0.999999	D;P;P;P	0.58268	0.982;0.802;0.702;0.802	D;B;B;B	0.67548	0.952;0.337;0.182;0.337	T	0.39418	-0.9615	9	.	.	.	-15.6625	10.0405	0.42155	0.9134:0.0:0.0866:0.0	.	255;874;898;871	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	L	84;871;899;898;874	ENSP00000267229:F871L;ENSP00000390222:F874L	.	F	-	3	2	RBM26	78809277	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.145000	0.42207	2.042000	0.60477	0.528000	0.53228	TTT		0.507	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		14	35	0	0	0	1	0	14	35				
GRM3	2913	broad.mit.edu	37	7	86468552	86468552	+	Silent	SNP	C	C	T	rs372193050		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:86468552C>T	ENST00000361669.2	+	4	2821	c.1722C>T	c.(1720-1722)gaC>gaT	p.D574D	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.D446D|GRM3_ENST00000546348.1_Silent_p.D166D|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	574					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GGTGGGAAGACGCCTGGGCCA	0.498																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1720-1722)gaC>gaT		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)	C		1,4405	2.1+/-5.4	0,1,2202	102.0	98.0	100.0		1722	-3.0	1.0	7		100	0,8600		0,0,4300	no	coding-synonymous	GRM3	NM_000840.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		574/880	86468552	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	integral to plasma membrane		g.chr7:86468552C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1722C>T	7.37:g.86468552C>T						GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.D166D|GRM3_ENST00000536043.1_Silent_p.D446D|GRM3_ENST00000439827.1_Intron	p.D574D	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	2821	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		574					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.1722C>T	CCDS5600.1																																																																																				0.498	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			36	57	0	0	0	1	0	36	57				
MOG	4340	broad.mit.edu	37	6	29641083	29641083	+	IGR	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:29641083G>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Missense_Mutation_p.R249W|ZFP57_ENST00000488757.1_Missense_Mutation_p.R269W|ZFP57_ENST00000376881.3_Missense_Mutation_p.R249W	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GACTGGTCCCGGAAGCTCTTC	0.557																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(745-747)Cgg>Tgg		ZFP57 zinc finger protein							117.0	126.0	123.0					6																	29641083		1306	2579	3885	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641083G>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641083G>A						ZFP57_ENST00000376881.3_Missense_Mutation_p.R249W|ZFP57_ENST00000488757.1_Missense_Mutation_p.R269W	p.R249W			Q9NU63	ZFP57_HUMAN			6	1156	-			185					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.745C>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316037	0.60524	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.54071	0.59;0.59;0.59	4.64	1.76	0.24704	.	0.000000	0.43919	D	0.000516	T	0.46698	0.1406	L	0.50847	1.595	0.21604	N	0.999622	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.984	T	0.27365	-1.0076	10	0.72032	D	0.01	-30.4224	5.7424	0.18102	0.0933:0.0:0.3979:0.5087	.	269;249	Q9NU63-3;Q9NU63-2	.;.	W	269;249;249	ENSP00000418259:R269W;ENSP00000366078:R249W;ENSP00000366080:R249W	ENSP00000366078:R249W	R	-	1	2	ZFP57	29749062	0.000000	0.05858	0.996000	0.52242	0.968000	0.65278	-0.431000	0.06965	0.625000	0.30304	0.563000	0.77884	CGG		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		40	83	0	0	0	1	0	40	83				
FIGN	55137	broad.mit.edu	37	2	164467497	164467497	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:164467497G>T	ENST00000333129.3	-	3	1159	c.845C>A	c.(844-846)cCc>cAc	p.P282H	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	282	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TAGGGGGGTGGGAGCAGGAAT	0.602																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(844-846)cCc>cAc		fidgetin							38.0	42.0	41.0					2																	164467497		2006	4145	6151	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467497G>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.845C>A	2.37:g.164467497G>T	ENSP00000333836:p.Pro282His					FIGN_ENST00000409634.1_Intron	p.P282H	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1159	-			282			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.845C>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914093	0.72983	.	.	ENSG00000182263	ENST00000333129	D	0.94000	-3.33	5.94	5.94	0.96194	.	0.127292	0.53938	D	0.000043	D	0.95784	0.8628	M	0.61703	1.905	0.80722	D	1	D	0.67145	0.996	P	0.60012	0.867	D	0.95374	0.8467	10	0.62326	D	0.03	-14.3921	20.3666	0.98879	0.0:0.0:1.0:0.0	.	282	Q5HY92	FIGN_HUMAN	H	282	ENSP00000333836:P282H	ENSP00000333836:P282H	P	-	2	0	FIGN	164175743	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	9.824000	0.99380	2.814000	0.96858	0.563000	0.77884	CCC		0.602	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		32	38	1	0	2.80507e-11	1	3.07544e-11	32	38				
TBC1D4	9882	broad.mit.edu	37	13	75884163	75884163	+	Silent	SNP	T	T	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:75884163T>C	ENST00000377636.3	-	14	2854	c.2508A>G	c.(2506-2508)tcA>tcG	p.S836S	TBC1D4_ENST00000431480.2_Silent_p.S828S|TBC1D4_ENST00000425511.1_Silent_p.S53S|TBC1D4_ENST00000377625.2_Silent_p.S773S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	836					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCAGTTCTTTTGATTTCTTTC	0.433																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2506-2508)tcA>tcG		TBC1 domain family, member 4							160.0	142.0	148.0					13																	75884163		1836	4082	5918	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75884163T>C	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2508A>G	13.37:g.75884163T>C						TBC1D4_ENST00000431480.2_Silent_p.S828S|TBC1D4_ENST00000425511.1_Silent_p.S53S|TBC1D4_ENST00000377625.2_Silent_p.S773S	p.S836S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	14	2854	-		Prostate(6;0.014)|Breast(118;0.0982)	836					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.2508A>G	CCDS41901.1																																																																																				0.433	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		23	25	0	0	0	1	0	23	25				
NTRK1	4914	broad.mit.edu	37	1	156841545	156841545	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:156841545C>A	ENST00000524377.1	+	7	889	c.848C>A	c.(847-849)tCc>tAc	p.S283Y	NTRK1_ENST00000358660.3_Missense_Mutation_p.S283Y|NTRK1_ENST00000368196.3_Missense_Mutation_p.S283Y|NTRK1_ENST00000392302.2_Missense_Mutation_p.S253Y	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	283	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GTCAACGTCTCCTGTGAGTCT	0.582			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(847-849)tCc>tAc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						93.0	79.0	84.0					1																	156841545		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156841545C>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.848C>A	1.37:g.156841545C>A	ENSP00000431418:p.Ser283Tyr	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Missense_Mutation_p.S253Y|NTRK1_ENST00000524377.1_Missense_Mutation_p.S283Y|NTRK1_ENST00000358660.3_Missense_Mutation_p.S283Y	p.S283Y	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			7	968	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		283			Ig-like C2-type 1.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.848C>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	8.515	0.867439	0.17250	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.21	5.21	0.72293	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.111674	0.40908	D	0.000985	T	0.13543	0.0328	L	0.39633	1.23	0.33582	D	0.600026	P;P;D;D	0.89917	0.519;0.901;1.0;1.0	B;B;D;D	0.97110	0.238;0.418;1.0;0.99	T	0.03043	-1.1079	10	0.02654	T	1	.	10.9728	0.47448	0.0:0.9148:0.0:0.0852	.	283;283;283;253	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	Y	253;283;283;283	ENSP00000376120:S253Y;ENSP00000357179:S283Y;ENSP00000431418:S283Y;ENSP00000351486:S283Y	ENSP00000351486:S283Y	S	+	2	0	NTRK1	155108169	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.763000	0.47605	2.698000	0.92095	0.655000	0.94253	TCC		0.582	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		9	72	1	0	3.07112e-06	1	3.24967e-06	9	72				
FAM124A	220108	broad.mit.edu	37	13	51825708	51825708	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:51825708C>A	ENST00000322475.8	+	3	340	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	FAM124A_ENST00000280057.6_Missense_Mutation_p.L105M	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	69										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CGACAACGTCCTGGCGTGGAT	0.692																																						ENST00000322475.8																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(205-207)Ctg>Atg		family with sequence similarity 124A							25.0	23.0	24.0					13																	51825708		2203	4300	6503	SO:0001583	missense	220108							g.chr13:51825708C>A	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.205C>A	13.37:g.51825708C>A	ENSP00000324625:p.Leu69Met					FAM124A_ENST00000280057.6_Missense_Mutation_p.L105M	p.L69M	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	340	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	69					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	c.205C>A	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271851	0.59649	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.62364	0.03;0.03	5.79	-7.63	0.01290	.	0.079233	0.51477	D	0.000088	T	0.69260	0.3091	M	0.66939	2.045	0.29059	N	0.884016	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.79108	0.988;0.992;0.931	T	0.70241	-0.4926	10	0.52906	T	0.07	-6.2224	13.1846	0.59673	0.0:0.6161:0.1032:0.2806	.	69;105;69	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	M	69;105	ENSP00000324625:L69M;ENSP00000280057:L105M	ENSP00000280057:L105M	L	+	1	2	FAM124A	50723709	0.004000	0.15560	0.035000	0.18076	0.966000	0.64601	0.036000	0.13819	-1.216000	0.02607	-0.880000	0.02959	CTG		0.692	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		10	33	1	0	7.48243e-07	1	8.0106e-07	10	33				
LRP2	4036	broad.mit.edu	37	2	169995843	169995843	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:169995843C>T	ENST00000263816.3	-	74	13591	c.13306G>A	c.(13306-13308)Gta>Ata	p.V4436I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4436					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GCTCCAATTACGACGATCAAG	0.507																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(13306-13308)Gta>Ata		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						68.0	69.0	68.0					2																	169995843		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:169995843C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13306G>A	2.37:g.169995843C>T	ENSP00000263816:p.Val4436Ile						p.V4436I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	74	13591	-			4436					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.13306G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	8.716	0.913188	0.17907	.	.	ENSG00000081479	ENST00000263816	D	0.89123	-2.47	5.53	1.53	0.23141	.	0.095285	0.64402	N	0.000003	T	0.68659	0.3025	N	0.04508	-0.205	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.58819	-0.7569	10	0.05721	T	0.95	.	7.2797	0.26304	0.0:0.2052:0.122:0.6728	.	4436	P98164	LRP2_HUMAN	I	4436	ENSP00000263816:V4436I	ENSP00000263816:V4436I	V	-	1	0	LRP2	169704089	0.996000	0.38824	0.890000	0.34922	0.797000	0.45037	0.525000	0.22956	0.400000	0.25396	-1.298000	0.01336	GTA		0.507	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		6	73	0	0	0	1	0	6	73				
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	byFrequency	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173				TPTE2P6_ENST00000440905.1_RNA																							TTTTCTCTTCGGTGAGTAATC	0.388													.|||	851	0.169928	0.1914	0.183	5008	,	,		15991	0.0982		0.2634	False		,,,				2504	0.1094					ENST00000453498.1																			0																																																			0							g.chr13:25168501G>A																													13.37:g.25168501G>A														0	1173	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.388	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			6	21	0	0	0	1	0	6	21				
TDRD1	56165	broad.mit.edu	37	10	115981160	115981160	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:115981160G>T	ENST00000369280.1	+	20	3275	c.2815G>T	c.(2815-2817)Gat>Tat	p.D939Y	TDRD1_ENST00000251864.2_Missense_Mutation_p.D939Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D939Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D825Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D543Y			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	939					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATTGCCAGTGGATAAAACTAT	0.363																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(2815-2817)Gat>Tat		tudor domain containing 1							99.0	100.0	100.0					10																	115981160		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115981160G>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2815G>T	10.37:g.115981160G>T	ENSP00000358286:p.Asp939Tyr					TDRD1_ENST00000369281.2_Missense_Mutation_p.D825Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D543Y|TDRD1_ENST00000369280.1_Missense_Mutation_p.D939Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D939Y	p.D939Y	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	20	2968	+		Colorectal(252;0.172)|Breast(234;0.188)	939					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.2815G>T		.	.	.	.	.	.	.	.	.	.	G	12.90	2.077823	0.36662	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82	5.92	0.403	0.16350	Maternal tudor protein (1);	0.443769	0.25941	N	0.027317	T	0.12050	0.0293	L	0.48642	1.525	0.26605	N	0.972948	P;P;P;P;P	0.47253	0.759;0.773;0.888;0.892;0.864	P;P;P;B;P	0.49140	0.601;0.452;0.478;0.323;0.447	T	0.08743	-1.0707	10	0.59425	D	0.04	-13.6255	4.7914	0.13250	0.5022:0.1616:0.3361:0.0	.	543;939;825;939;825	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	Y	939;939;825;543;939	ENSP00000358288:D939Y;ENSP00000251864:D939Y;ENSP00000358287:D825Y;ENSP00000402794:D543Y;ENSP00000358286:D939Y	ENSP00000251864:D939Y	D	+	1	0	TDRD1	115971150	0.786000	0.28738	0.994000	0.49952	0.027000	0.11550	1.468000	0.35332	0.124000	0.18369	-0.295000	0.09555	GAT		0.363	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			23	24	1	0	7.41877e-09	1	8.037e-09	23	24				
OR2B11	127623	broad.mit.edu	37	1	247614475	247614475	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:247614475G>A	ENST00000318749.6	-	1	833	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTCTTGGGAGTAGCTGGAAG	0.493																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(808-810)taC>taT		olfactory receptor, family 2, subfamily B, member 11							151.0	157.0	155.0					1																	247614475		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614475G>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.810C>T	1.37:g.247614475G>A							p.Y270Y	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	833	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	270					B2RP03	Silent	SNP	ENST00000318749.6	37	c.810C>T	CCDS31090.1																																																																																				0.493	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		15	176	0	0	0	1	0	15	176				
C21orf2	755	broad.mit.edu	37	21	45753071	45753071	+	Missense_Mutation	SNP	C	C	T	rs140451304		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr21:45753071C>T	ENST00000339818.4	-	4	425	c.218G>A	c.(217-219)cGc>cAc	p.R73H	C21orf2_ENST00000397956.3_Missense_Mutation_p.R73H|C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000325223.7_Missense_Mutation_p.R73H|AP001062.7_ENST00000448927.1_RNA	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	73					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		GCTGGGGATGCGGTTCCTCCG	0.677																																						ENST00000339818.4																			0				endometrium(2)	2						c.(217-219)cGc>cAc		chromosome 21 open reading frame 2							26.0	27.0	27.0					21																	45753071		2202	4300	6502	SO:0001583	missense	755							g.chr21:45753071C>T	Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"""nuclear encoded mitochondrial protein"", ""leucine rich repeat containing 76"""	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.218G>A	21.37:g.45753071C>T	ENSP00000344566:p.Arg73His					C21orf2_ENST00000397956.3_Missense_Mutation_p.R73H|C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000325223.7_Missense_Mutation_p.R73H|AP001062.7_ENST00000448927.1_RNA	p.R73H	NM_004928.2	NP_004919.1	O43822	CU002_HUMAN		Colorectal(79;0.0806)	4	425	-			73					A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Missense_Mutation	SNP	ENST00000339818.4	37	c.218G>A	CCDS13709.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164124	0.38217	.	.	ENSG00000160226	ENST00000339818;ENST00000380160;ENST00000397956;ENST00000325223	T;T;T	0.09911	2.93;2.93;2.93	4.99	2.04	0.26737	.	0.730148	0.13311	N	0.397507	T	0.05960	0.0155	L	0.33245	0.995	0.09310	N	0.999998	B;P;B;B	0.36378	0.04;0.55;0.049;0.001	B;B;B;B	0.24541	0.007;0.054;0.011;0.001	T	0.34254	-0.9836	10	0.34782	T	0.22	-18.6603	4.4168	0.11461	0.17:0.583:0.0:0.247	.	73;73;73;32	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	H	73;109;73;73	ENSP00000344566:R73H;ENSP00000381047:R73H;ENSP00000317302:R73H	ENSP00000317302:R73H	R	-	2	0	C21orf2	44577499	0.135000	0.22499	0.996000	0.52242	0.789000	0.44602	-0.042000	0.12063	0.587000	0.29643	-0.126000	0.14955	CGC		0.677	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		10	19	0	0	0	1	0	10	19				
ABCA12	26154	broad.mit.edu	37	2	215815735	215815735	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:215815735C>G	ENST00000272895.7	-	45	6939	c.6720G>C	c.(6718-6720)gaG>gaC	p.E2240D	ABCA12_ENST00000389661.4_Missense_Mutation_p.E1922D|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2240					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCTTAATCTCTCAGCCCGCA	0.383																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(6718-6720)gaG>gaC		ATP-binding cassette, sub-family A (ABC1), member 12							232.0	227.0	229.0					2																	215815735		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215815735C>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6720G>C	2.37:g.215815735C>G	ENSP00000272895:p.Glu2240Asp					AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.E1922D	p.E2240D	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	45	6939	-		Renal(323;0.127)	2240					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.6720G>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277046	0.59758	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.93659	-3.26;-3.2	5.61	1.33	0.21861	.	0.264539	0.32719	N	0.005738	D	0.96778	0.8948	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.993;1.0	D	0.95899	0.8913	10	0.87932	D	0	.	10.1939	0.43043	0.0:0.5735:0.0:0.4265	.	2240;1922	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	D	2240;1922	ENSP00000272895:E2240D;ENSP00000374312:E1922D	ENSP00000272895:E2240D	E	-	3	2	ABCA12	215523980	0.989000	0.36119	0.995000	0.50966	0.734000	0.41952	0.274000	0.18680	0.340000	0.23745	0.555000	0.69702	GAG		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		81	93	0	0	0	1	0	81	93				
MRPL44	65080	broad.mit.edu	37	2	224831613	224831613	+	Silent	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:224831613A>G	ENST00000258383.3	+	4	930	c.861A>G	c.(859-861)gaA>gaG	p.E287E	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	287	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACCTGGGGAAACAGTATTGG	0.403																																						ENST00000258383.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(859-861)gaA>gaG		mitochondrial ribosomal protein L44							114.0	128.0	123.0					2																	224831613		2203	4300	6503	SO:0001819	synonymous_variant	65080				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity	g.chr2:224831613A>G	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.861A>G	2.37:g.224831613A>G						AC073641.2_ENST00000425192.1_RNA	p.E287E	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)	4	930	+		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)	287			DRBM.		Q53S16|Q6IA62|Q9H821	Silent	SNP	ENST00000258383.3	37	c.861A>G	CCDS2459.1																																																																																				0.403	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		40	105	0	0	0	1	0	40	105				
CD300C	10871	broad.mit.edu	37	17	72541016	72541016	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:72541016G>A	ENST00000330793.1	-	2	492	c.132C>T	c.(130-132)cgC>cgT	p.R44R		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	44	Ig-like V-type.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCTTCTCATAGCGACACTGCA	0.532																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	ENST00000330793.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						c.(130-132)cgC>cgT		CD300c molecule							98.0	88.0	91.0					17																	72541016		2203	4300	6503	SO:0001819	synonymous_variant	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72541016G>A	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.132C>T	17.37:g.72541016G>A							p.R44R	NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN			2	492	-			44			Ig-like V-type.			Silent	SNP	ENST00000330793.1	37	c.132C>T	CCDS11701.1																																																																																				0.532	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		29	34	0	0	0	1	0	29	34				
SCNN1A	6337	broad.mit.edu	37	12	6472683	6472683	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:6472683G>C	ENST00000228916.2	-	3	708	c.610C>G	c.(610-612)Cgt>Ggt	p.R204G	SCNN1A_ENST00000358945.3_Missense_Mutation_p.R204G|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R263G|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R227G|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000396966.2_Missense_Mutation_p.R204G	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	204					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCCACGCTACGGGCTCGACGG	0.741																																						ENST00000358945.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(610-612)Cgt>Ggt		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						11.0	14.0	13.0					12																	6472683		2195	4285	6480	SO:0001583	missense	0				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6472683G>C	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.610C>G	12.37:g.6472683G>C	ENSP00000228916:p.Arg204Gly					SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000396966.2_Missense_Mutation_p.R204G|SCNN1A_ENST00000228916.2_Missense_Mutation_p.R204G|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R227G|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R263G	p.R204G			P37088	SCNNA_HUMAN			2	1050	-			204					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.610C>G	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996302	0.54147	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T	0.72505	-0.61;-0.66;-0.58;-0.24;-0.6	4.27	4.27	0.50696	.	0.432662	0.19693	N	0.108234	T	0.82038	0.4950	M	0.70842	2.15	0.44694	D	0.99768	D;D;P	0.76494	0.999;0.998;0.875	D;D;P	0.69142	0.962;0.93;0.863	D	0.83543	0.0097	10	0.56958	D	0.05	-24.8916	15.0139	0.71570	0.0:0.0:1.0:0.0	.	227;204;263	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	G	263;204;204;204;227	ENSP00000353292:R263G;ENSP00000351825:R204G;ENSP00000228916:R204G;ENSP00000380166:R204G;ENSP00000438739:R227G	ENSP00000228916:R204G	R	-	1	0	SCNN1A	6342944	0.992000	0.36948	0.645000	0.29479	0.005000	0.04900	2.462000	0.45049	2.304000	0.77564	0.561000	0.74099	CGT		0.741	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			18	10	0	0	0	1	0	18	10				
JAM3	83700	broad.mit.edu	37	11	134009765	134009765	+	Silent	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:134009765A>G	ENST00000299106.4	+	2	255	c.96A>G	c.(94-96)gtA>gtG	p.V32V	JAM3_ENST00000529443.2_Silent_p.V77V|JAM3_ENST00000441717.3_Silent_p.V32V|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	32					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TAGGGGCTGTAAATCTCAAAT	0.438											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000299106.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10						c.(94-96)gtA>gtG		junctional adhesion molecule 3							138.0	125.0	130.0					11																	134009765		2201	4297	6498	SO:0001819	synonymous_variant	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134009765A>G	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.96A>G	11.37:g.134009765A>G			OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1607	JAM3_ENST00000441717.3_Silent_p.V32V|JAM3_ENST00000529443.2_Silent_p.V77V|JAM3_ENST00000524969.1_3'UTR	p.V32V			Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	2	255	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	32					B3KWG9|Q8WWL8|Q96FL1	Silent	SNP	ENST00000299106.4	37	c.96A>G	CCDS8494.2	.	.	.	.	.	.	.	.	.	.	A	3.999	-0.002907	0.07773	.	.	ENSG00000166086	ENST00000531698;ENST00000529443	.	.	.	5.52	1.33	0.21861	.	.	.	.	.	T	0.53158	0.1779	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	.	5.9474	0.19227	0.3351:0.1232:0.5417:0.0	.	.	.	.	E	37	.	.	K	+	1	0	JAM3	133514975	1.000000	0.71417	0.996000	0.52242	0.438000	0.31896	0.917000	0.28665	0.013000	0.14918	-1.133000	0.01973	AAA		0.438	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		44	31	0	0	0	1	0	44	31				
RIMS2	9699	broad.mit.edu	37	8	104955062	104955062	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:104955062C>T	ENST00000436393.2	+	12	2184	c.1943C>T	c.(1942-1944)aCg>aTg	p.T648M	RIMS2_ENST00000406091.3_Missense_Mutation_p.T870M|RIMS2_ENST00000507740.1_Missense_Mutation_p.T662M|RIMS2_ENST00000262231.10_Missense_Mutation_p.T709M			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	932					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAACTTCAGACGCATGATGTC	0.418										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(1984-1986)aCg>aTg		regulating synaptic membrane exocytosis 2							81.0	75.0	77.0					8																	104955062		1889	4117	6006	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104955062C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1943C>T	8.37:g.104955062C>T	ENSP00000390665:p.Thr648Met	HNSCC(12;0.0054)				RIMS2_ENST00000406091.3_Missense_Mutation_p.T870M|RIMS2_ENST00000436393.2_Missense_Mutation_p.T648M|RIMS2_ENST00000262231.10_Missense_Mutation_p.T709M	p.T662M	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		11	2221	+			932					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1985C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.059626	0.76074	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.17	5.17	0.71159	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.87947	0.6306	M	0.72894	2.215	0.80722	D	1	P;D;D;P;P;P	0.89917	0.929;0.957;1.0;0.81;0.807;0.841	P;P;D;B;B;P	0.85130	0.46;0.585;0.997;0.331;0.377;0.475	D	0.89008	0.3426	9	0.87932	D	0	.	19.0411	0.92999	0.0:1.0:0.0:0.0	.	932;932;648;709;662;870	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	M	870;885;870;932;662;709;662;662;648	ENSP00000427018:T870M;ENSP00000384892:T870M;ENSP00000425205:T662M;ENSP00000262231:T709M;ENSP00000423559:T662M;ENSP00000386228:T662M;ENSP00000390665:T648M	ENSP00000262231:T709M	T	+	2	0	RIMS2	105024238	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.914000	0.69964	2.552000	0.86080	0.591000	0.81541	ACG		0.418	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		15	77	0	0	0	1	0	15	77				
DSP	1832	broad.mit.edu	37	6	7580595	7580595	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:7580595A>G	ENST00000379802.3	+	23	4513	c.4172A>G	c.(4171-4173)tAc>tGc	p.Y1391C	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1391	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACCAGTGGCTACCGGGCTCAG	0.463																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(4171-4173)tAc>tGc		desmoplakin							92.0	93.0	93.0					6																	7580595		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580595A>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4172A>G	6.37:g.7580595A>G	ENSP00000369129:p.Tyr1391Cys					DSP_ENST00000418664.2_Intron	p.Y1391C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4513	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1391			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.4172A>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307682	0.23821	.	.	ENSG00000096696	ENST00000379802	D	0.91295	-2.82	5.65	3.15	0.36227	.	0.226336	0.31290	N	0.007910	T	0.72684	0.3491	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65286	-0.6205	10	0.41790	T	0.15	.	10.0721	0.42339	0.6113:0.0:0.0:0.3887	.	1391	P15924	DESP_HUMAN	C	1391	ENSP00000369129:Y1391C	ENSP00000369129:Y1391C	Y	+	2	0	DSP	7525594	0.995000	0.38212	1.000000	0.80357	0.532000	0.34746	1.792000	0.38754	0.374000	0.24650	-0.327000	0.08410	TAC		0.463	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		46	79	0	0	0	1	0	46	79				
OCEL1	79629	broad.mit.edu	37	19	17337954	17337954	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:17337954G>C	ENST00000215061.4	+	3	442	c.398G>C	c.(397-399)gGa>gCa	p.G133A	OCEL1_ENST00000601529.1_Missense_Mutation_p.G133A|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_Missense_Mutation_p.G77A	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	133										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AAGCCTATTGGAGCCATCCCT	0.592																																						ENST00000215061.4																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						c.(397-399)gGa>gCa		occludin/ELL domain containing 1							65.0	75.0	71.0					19																	17337954		2203	4300	6503	SO:0001583	missense	79629							g.chr19:17337954G>C	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.398G>C	19.37:g.17337954G>C	ENSP00000215061:p.Gly133Ala					OCEL1_ENST00000597836.1_Missense_Mutation_p.G77A|OCEL1_ENST00000601529.1_Missense_Mutation_p.G133A|OCEL1_ENST00000601576.1_3'UTR	p.G133A	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN			3	442	+			133						Missense_Mutation	SNP	ENST00000215061.4	37	c.398G>C	CCDS12351.1	.	.	.	.	.	.	.	.	.	.	G	9.235	1.036738	0.19669	.	.	ENSG00000099330	ENST00000215061	T	0.31247	1.5	3.94	-3.16	0.05217	.	1.038830	0.07587	N	0.921245	T	0.13713	0.0332	N	0.19112	0.55	0.09310	N	1	B	0.29037	0.231	B	0.19666	0.026	T	0.23404	-1.0189	10	0.44086	T	0.13	.	0.7269	0.00950	0.1964:0.1544:0.3342:0.3151	.	133	Q9H607	OCEL1_HUMAN	A	133	ENSP00000215061:G133A	ENSP00000215061:G133A	G	+	2	0	OCEL1	17198954	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.920000	0.04013	-0.248000	0.09583	-0.500000	0.04577	GGA		0.592	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		12	142	0	0	0	1	0	12	142				
EPG5	57724	broad.mit.edu	37	18	43526694	43526694	+	Missense_Mutation	SNP	G	G	A	rs372785168		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr18:43526694G>A	ENST00000282041.5	-	7	1646	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	538					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GATGGCTTCCGCTCGCTGGGC	0.478																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(1612-1614)Cgg>Tgg		ectopic P-granules autophagy protein 5 homolog (C. elegans)		G	TRP/ARG	0,3994		0,0,1997	108.0	109.0	109.0		1612	-6.0	0.1	18		109	1,8325		0,1,4162	no	missense	EPG5	NM_020964.2	101	0,1,6159	AA,AG,GG		0.012,0.0,0.0081	benign	538/2580	43526694	1,12319	1997	4163	6160	SO:0001583	missense	57724				autophagy			g.chr18:43526694G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1612C>T	18.37:g.43526694G>A	ENSP00000282041:p.Arg538Trp						p.R538W	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			7	1646	-			538					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.1612C>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899205	0.33535	0.0	1.2E-4	ENSG00000152223	ENST00000282041	T	0.81163	-1.46	4.57	-6.02	0.02192	.	1.203510	0.06133	N	0.671061	T	0.47469	0.1447	N	0.01352	-0.895	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.32824	-0.9892	10	0.46703	T	0.11	1.0457	2.2547	0.04052	0.4929:0.0879:0.2392:0.18	.	538;538	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	W	538	ENSP00000282041:R538W	ENSP00000282041:R538W	R	-	1	2	EPG5	41780692	0.005000	0.15991	0.062000	0.19696	0.679000	0.39708	-0.006000	0.12833	-0.759000	0.04684	0.305000	0.20034	CGG		0.478	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		16	41	0	0	0	1	0	16	41				
DMD	1756	broad.mit.edu	37	X	31525450	31525450	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:31525450C>G	ENST00000357033.4	-	56	8544	c.8338G>C	c.(8338-8340)Gat>Cat	p.D2780H	DMD_ENST00000445312.1_5'UTR|DMD_ENST00000343523.2_Missense_Mutation_p.D320H|DMD_ENST00000541735.1_Missense_Mutation_p.D320H|DMD_ENST00000359836.1_Missense_Mutation_p.D320H|DMD_ENST00000378677.2_Missense_Mutation_p.D2776H|DMD_ENST00000378707.3_Missense_Mutation_p.D320H|DMD_ENST00000474231.1_Missense_Mutation_p.D320H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2780					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCATGTTATCCAAACGTCTT	0.413																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(8338-8340)Gat>Cat		dystrophin							192.0	155.0	167.0					X																	31525450		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31525450C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8338G>C	X.37:g.31525450C>G	ENSP00000354923:p.Asp2780His					DMD_ENST00000378707.3_Missense_Mutation_p.D320H|DMD_ENST00000474231.1_Missense_Mutation_p.D320H|DMD_ENST00000378677.2_Missense_Mutation_p.D2776H|DMD_ENST00000343523.2_Missense_Mutation_p.D320H|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000541735.1_Missense_Mutation_p.D320H|DMD_ENST00000359836.1_Missense_Mutation_p.D320H	p.D2780H	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			56	8544	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2780					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.8338G>C	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.64|18.64	3.666731|3.666731	0.67814|0.67814	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.37584|.	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.38164|.	U|.	0.001785|.	T|T	0.78842|0.78842	0.4347|0.4347	M|M	0.80982|0.80982	2.52|2.52	0.58432|0.58432	D|D	0.999999|0.999999	P;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.822;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	P;D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.789;0.993;0.999;0.997;0.998;0.996;0.997;0.997;0.996;0.994;0.993|.	T|T	0.79654|0.79654	-0.1713|-0.1713	10|5	0.62326|.	D|.	0.03|.	.|.	18.6187|18.6187	0.91313|0.91313	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2772;2780;2776;1439;1436;320;320;320;320;320;2657|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	H|A	2772;1439;1436;476;2776;2780;320;320;2780;2657;320;320;320|508	ENSP00000350765:D476H;ENSP00000367948:D2776H;ENSP00000354923:D2780H;ENSP00000352894:D320H;ENSP00000340057:D320H;ENSP00000367979:D320H;ENSP00000444119:D320H;ENSP00000417123:D320H|.	ENSP00000340057:D320H|.	D|G	-|-	1|2	0|0	DMD|DMD	31435371|31435371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.994000|4.994000	0.63901|0.63901	2.340000|2.340000	0.79590|0.79590	0.594000|0.594000	0.82650|0.82650	GAT|GGA		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		20	27	0	0	0	1	0	20	27				
LINC00264	645528	broad.mit.edu	37	10	26880338	26880338	+	lincRNA	SNP	G	G	C	rs3118888		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1				long intergenic non-protein coding RNA 264																		GCTGAAACATGGAAGGTAAAA	0.483																																						ENST00000412114.1																			0																																																			0							g.chr10:26880338G>C			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880338G>C								NR_026793.1						0	573	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.483	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		5	68	0	0	0	1	0	5	68				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	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.chr17:7577538C>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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	p.R248Q	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	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in 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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	8	0	0	0	1	0	45	8				
SRRM2	23524	broad.mit.edu	37	16	2816009	2816009	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr16:2816009G>A	ENST00000301740.8	+	11	6029	c.5480G>A	c.(5479-5481)cGg>cAg	p.R1827Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1827	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCACCTGCCCGGCAGGAAAGT	0.652																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(5479-5481)cGg>cAg		serine/arginine repetitive matrix 2							38.0	43.0	42.0					16																	2816009		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2816009G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5480G>A	16.37:g.2816009G>A	ENSP00000301740:p.Arg1827Gln						p.R1827Q	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	6029	+			1827			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.5480G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134248	0.37630	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.28666	1.6	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000037	T	0.34077	0.0885	N	0.08118	0	0.29814	N	0.831367	D	0.69078	0.997	D	0.70227	0.968	T	0.28299	-1.0048	10	0.40728	T	0.16	-8.8333	14.803	0.69929	0.0:0.0:1.0:0.0	.	1827	Q9UQ35	SRRM2_HUMAN	Q	1827;1827;1079	ENSP00000301740:R1827Q	ENSP00000301740:R1827Q	R	+	2	0	SRRM2	2756010	0.891000	0.30450	0.998000	0.56505	0.994000	0.84299	5.510000	0.67018	2.562000	0.86427	0.650000	0.86243	CGG		0.652	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			10	45	0	0	0	1	0	10	45				
ARHGAP31	57514	broad.mit.edu	37	3	119013766	119013766	+	Silent	SNP	T	T	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:119013766T>A	ENST00000264245.4	+	1	547	c.15T>A	c.(13-15)ggT>ggA	p.G5G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	5					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGAACAAGGGTGCTAAGCAGA	0.587																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(13-15)ggT>ggA		Rho GTPase activating protein 31							96.0	107.0	104.0					3																	119013766		2016	4168	6184	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119013766T>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.15T>A	3.37:g.119013766T>A							p.G5G	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			1	547	+			5					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.15T>A	CCDS43135.1																																																																																				0.587	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			9	80	0	0	0	1	0	9	80				
ESX1	80712	broad.mit.edu	37	X	103497474	103497474	+	Missense_Mutation	SNP	T	T	A	rs201519494		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:103497474T>A	ENST00000372588.4	-	3	625	c.542A>T	c.(541-543)gAc>gTc	p.D181V		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	181					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CTGCACTCTGTCTTCAGTCAA	0.393																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(541-543)gAc>gTc		ESX homeobox 1							228.0	212.0	218.0					X																	103497474		2203	4300	6503	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103497474T>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.542A>T	X.37:g.103497474T>A	ENSP00000361669:p.Asp181Val						p.D181V	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			3	625	-			181					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.542A>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	T	6.447	0.450555	0.12223	.	.	ENSG00000123576	ENST00000372588	D	0.96200	-3.94	4.79	-2.11	0.07187	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);Homeobox, conserved site (1);	.	.	.	.	D	0.88887	0.6559	L	0.38175	1.15	0.09310	N	0.999999	B	0.27351	0.176	B	0.30495	0.116	T	0.77638	-0.2513	9	0.11485	T	0.65	-0.0045	3.1253	0.06405	0.0924:0.3948:0.2258:0.2871	.	181	Q8N693	ESX1_HUMAN	V	181	ENSP00000361669:D181V	ENSP00000361669:D181V	D	-	2	0	ESX1	103384130	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	0.019000	0.13444	-0.341000	0.08376	-0.275000	0.10095	GAC		0.393	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		64	136	0	0	0	1	0	64	136				
TREX2	11219	broad.mit.edu	37	X	152713287	152713287	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:152713287C>T	ENST00000334497.2	-	10	1155	c.14G>A	c.(13-15)gGa>gAa	p.G5E	TREX2_ENST00000414588.1_5'UTR|TREX2_ENST00000402951.1_Missense_Mutation_p.G5E|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000370232.1_Missense_Mutation_p.G5E|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370211.4_3'UTR|TREX2_ENST00000370231.2_5'Flank|HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000393862.2_5'UTR			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	5					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGGGCTTCCTGCCCGCCC	0.537								Editing and processing nucleases																														ENST00000334497.2																			0				endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11						c.(13-15)gGa>gAa	Editing and processing nucleases	three prime repair exonuclease 2							202.0	198.0	200.0					X																	152713287		2203	4300	6503	SO:0001583	missense	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152713287C>T	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.14G>A	X.37:g.152713287C>T	ENSP00000334993:p.Gly5Glu					HAUS7_ENST00000370219.3_3'UTR|TREX2_ENST00000402951.1_Missense_Mutation_p.G5E|HAUS7_ENST00000370211.4_3'UTR|HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000370232.1_Missense_Mutation_p.G5E|TREX2_ENST00000393862.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000414588.1_5'UTR|TREX2_ENST00000338525.2_5'UTR	p.G5E			Q9BQ50	TREX2_HUMAN			10	1155	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		5					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.14G>A		.	.	.	.	.	.	.	.	.	.	C	11.26	1.585054	0.28268	.	.	ENSG00000183479	ENST00000334497;ENST00000370232;ENST00000402951	T;T;T	0.52526	0.66;0.66;0.66	3.07	-1.42	0.08913	.	.	.	.	.	T	0.41119	0.1145	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.43766	-0.9371	6	0.87932	D	0	.	4.114	0.10072	0.5901:0.2711:0.0:0.1388	.	.	.	.	E	5	ENSP00000334993:G5E;ENSP00000359252:G5E;ENSP00000386078:G5E	ENSP00000334993:G5E	G	-	2	0	TREX2	152366481	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-0.967000	0.03821	-0.463000	0.06973	0.419000	0.28159	GGA		0.537	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		111	249	0	0	0	1	0	111	249				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657505	72657505	+	RNA	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:72657505G>A	ENST00000425256.1	-	0	2406									GTF2I repeat domain containing 2 pseudogene 1																		ccaccttgtcgtatttcgtct	0.512																																						ENST00000425256.1																			0																																																			0							g.chr7:72657505G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657505G>A								NR_002164.1						0	2406	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.512	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		13	159	0	0	0	1	0	13	159				
KIAA1279	26128	broad.mit.edu	37	10	70748846	70748846	+	Silent	SNP	C	C	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:70748846C>G	ENST00000361983.4	+	1	360	c.258C>G	c.(256-258)ccC>ccG	p.P86P		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	86					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CCGAGGGGCCCGTCGCCCAGC	0.721																																						ENST00000361983.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						c.(256-258)ccC>ccG		KIAA1279							19.0	23.0	22.0					10																	70748846		2200	4296	6496	SO:0001819	synonymous_variant	26128				cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	g.chr10:70748846C>G	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.258C>G	10.37:g.70748846C>G							p.P86P	NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN			1	360	+			86					A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Silent	SNP	ENST00000361983.4	37	c.258C>G	CCDS7284.1																																																																																				0.721	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		4	65	0	0	0	1	0	4	65				
MAGEB2	4113	broad.mit.edu	37	X	30236752	30236752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:30236752C>T	ENST00000378988.4	+	2	156	c.55C>T	c.(55-57)Cga>Tga	p.R19*		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	19										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CCGCAAGGCCCGAGATGAGAC	0.547																																						ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(55-57)Cga>Tga		melanoma antigen family B, 2							38.0	37.0	37.0					X																	30236752		2202	4300	6502	SO:0001587	stop_gained	4113						protein binding	g.chrX:30236752C>T	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.55C>T	X.37:g.30236752C>T	ENSP00000368273:p.Arg19*						p.R19*	NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN			2	156	+			19					O75860	Nonsense_Mutation	SNP	ENST00000378988.4	37	c.55C>T	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639730	0.47153	.	.	ENSG00000099399	ENST00000378988	.	.	.	3.43	-1.28	0.09318	.	1.269310	0.05610	N	0.577923	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8067	0.46522	0.3683:0.6317:0.0:0.0	.	.	.	.	X	19	.	ENSP00000368273:R19X	R	+	1	2	MAGEB2	30146673	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.174000	0.16743	-0.407000	0.07576	0.513000	0.50165	CGA		0.547	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		18	26	0	0	0	1	0	18	26				
PCDH8	5100	broad.mit.edu	37	13	53422054	53422054	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:53422054C>T	ENST00000377942.3	-	1	721	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PCDH8_ENST00000338862.4_Missense_Mutation_p.R173H	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	173	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTCGGCCAGGCGCACGGTCTG	0.716																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(517-519)cGc>cAc		protocadherin 8							7.0	8.0	8.0					13																	53422054		2098	4098	6196	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53422054C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.518G>A	13.37:g.53422054C>T	ENSP00000367177:p.Arg173His					PCDH8_ENST00000338862.4_Missense_Mutation_p.R173H	p.R173H	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	721	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	173			Cadherin 2.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.518G>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587329	0.46110	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.53640	0.61;0.61	4.5	4.5	0.54988	Cadherin (4);Cadherin-like (1);	0.000000	0.43579	D	0.000545	T	0.31199	0.0789	N	0.17872	0.535	0.36342	D	0.859567	B;B	0.32203	0.31;0.36	B;B	0.26416	0.041;0.069	T	0.44065	-0.9352	10	0.52906	T	0.07	.	12.5703	0.56332	0.0:1.0:0.0:0.0	.	173;173	O95206-2;O95206	.;PCDH8_HUMAN	H	173	ENSP00000367177:R173H;ENSP00000341350:R173H	ENSP00000341350:R173H	R	-	2	0	PCDH8	52320055	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.744000	0.55112	2.339000	0.79563	0.555000	0.69702	CGC		0.716	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		6	11	0	0	0	1	0	6	11				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	45	0	0	0	1	0	4	45				
PHF1	5252	broad.mit.edu	37	6	33383699	33383699	+	Missense_Mutation	SNP	C	C	T	rs368864667		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:33383699C>T	ENST00000374516.3	+	15	1799	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	PHF1_ENST00000374512.3_3'UTR|CUTA_ENST00000492510.1_5'Flank	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	510					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCTTCCTAGACGCTCAGCACC	0.592																																						ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1528-1530)Cgc>Tgc		PHD finger protein 1		C	,CYS/ARG	0,4406		0,0,2203	101.0	93.0	96.0		,1528	3.7	1.0	6		96	1,8597	1.2+/-3.3	0,1,4298	no	utr-3,missense	PHF1	NM_002636.4,NM_024165.2	,180	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,possibly-damaging	,510/568	33383699	1,13003	2203	4299	6502	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33383699C>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1528C>T	6.37:g.33383699C>T	ENSP00000363640:p.Arg510Cys					PHF1_ENST00000374512.3_3'UTR	p.R510C	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			15	1799	+		Ovarian(999;0.0443)	510					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.1528C>T	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344177	0.61073	0.0	1.16E-4	ENSG00000112511	ENST00000374516;ENST00000427826	T	0.24538	1.85	4.69	3.74	0.42951	.	0.657801	0.12327	N	0.478735	T	0.04634	0.0126	N	0.14661	0.345	0.32256	N	0.570755	P	0.44260	0.83	B	0.30495	0.116	T	0.14811	-1.0459	9	.	.	.	-3.6308	9.1453	0.36928	0.2335:0.7665:0.0:0.0	.	510	O43189	PHF1_HUMAN	C	510;124	ENSP00000363640:R510C	.	R	+	1	0	PHF1	33491677	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.391000	0.34475	2.446000	0.82766	0.655000	0.94253	CGC		0.592	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			48	92	0	0	0	1	0	48	92				
VPS13B	157680	broad.mit.edu	37	8	100865978	100865978	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:100865978T>G	ENST00000358544.2	+	56	10547	c.10436T>G	c.(10435-10437)aTt>aGt	p.I3479S	VPS13B_ENST00000357162.2_Missense_Mutation_p.I3454S|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3479					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCAGAACCCATTCAGTGTTCC	0.418																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(10435-10437)aTt>aGt		vacuolar protein sorting 13 homolog B (yeast)							92.0	90.0	91.0					8																	100865978		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100865978T>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10436T>G	8.37:g.100865978T>G	ENSP00000351346:p.Ile3479Ser					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.I3454S	p.I3479S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10547	+	Breast(36;3.73e-07)		3479					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.10436T>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	0.709	-0.787812	0.02884	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.66815	-0.23;-0.23	5.26	-1.04	0.10068	.	2.042920	0.02046	N	0.049657	T	0.39572	0.1083	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42085	-0.9472	10	0.07030	T	0.85	.	12.4587	0.55718	0.0:0.4671:0.0:0.5329	.	3454;3479	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	S	3454;3479	ENSP00000349685:I3454S;ENSP00000351346:I3479S	ENSP00000349685:I3454S	I	+	2	0	VPS13B	100935154	.	.	0.001000	0.08648	0.427000	0.31564	.	.	-0.113000	0.11958	0.528000	0.53228	ATT		0.418	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		241	33	0	0	0	1	0	241	33				
UGGT1	56886	broad.mit.edu	37	2	128938646	128938646	+	Splice_Site	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:128938646G>C	ENST00000259253.6	+	36	4130	c.4083G>C	c.(4081-4083)caG>caC	p.Q1361H	UGGT1_ENST00000375990.3_Splice_Site_p.Q1337H	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1361	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATGCTGATCAGGTAGGCCCTT	0.378																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.e36+1		UDP-glucose glycoprotein glucosyltransferase 1							161.0	150.0	153.0					2																	128938646		2203	4300	6503	SO:0001630	splice_region_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128938646G>C	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4083+1G>C	2.37:g.128938646G>C						UGGT1_ENST00000259253.6_Splice_Site_p.Q1361_splice	p.Q1337_splice			Q9NYU2	UGGG1_HUMAN			36	4414	+			1361			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Splice_Site	SNP	ENST00000259253.6	37	c.4011_splice	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170830	0.78452	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.22134	1.97;1.97	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73199	-0.4058	9	.	.	.	.	13.945	0.64080	0.073:0.0:0.927:0.0	.	1361	Q9NYU2	UGGG1_HUMAN	H	1337;1361	ENSP00000365158:Q1337H;ENSP00000259253:Q1361H	.	Q	+	3	2	UGGT1	128655116	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.605000	0.82844	2.734000	0.93682	0.585000	0.79938	CAG		0.378	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	Missense_Mutation	29	43	0	0	0	1	0	29	43				
RPLP0P2	113157	broad.mit.edu	37	11	61405179	61405179	+	RNA	SNP	A	A	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:61405179A>T	ENST00000496593.1	+	0	1783					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		ttacttctttaaaaaaaaaaa	0.299																																						ENST00000496593.1																			0																																																			0							g.chr11:61405179A>T	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405179A>T								NR_002775.2						0	1783	+									RNA	SNP	ENST00000496593.1	37																																																																																						0.299	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		4	7	0	0	0	1	0	4	7				
ZNF571	51276	broad.mit.edu	37	19	38056900	38056900	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:38056900A>G	ENST00000328550.2	-	4	529	c.430T>C	c.(430-432)Tgc>Cgc	p.C144R	ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000358744.3_Missense_Mutation_p.C144R|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000451802.2_Missense_Mutation_p.C144R|ZNF571_ENST00000593133.1_Missense_Mutation_p.C144R			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTGTCTGCATTCCTTACAT	0.353																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(430-432)Tgc>Cgc		zinc finger protein 571							112.0	108.0	109.0					19																	38056900		2203	4300	6503	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056900A>G	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.430T>C	19.37:g.38056900A>G	ENSP00000333660:p.Cys144Arg					ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.C144R|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.C144R|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.C144R|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA	p.C144R			Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	529	-			144					Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.430T>C	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152264	0.57259	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.08807	3.05;3.05;3.05	3.23	3.23	0.37069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29914	0.0748	H	0.98577	4.27	0.22266	N	0.99924	P	0.42409	0.779	P	0.44921	0.464	T	0.38222	-0.9671	9	0.72032	D	0.01	.	10.6374	0.45573	1.0:0.0:0.0:0.0	.	144	Q7Z3V5	ZN571_HUMAN	R	144	ENSP00000333660:C144R;ENSP00000392638:C144R;ENSP00000351594:C144R	ENSP00000333660:C144R	C	-	1	0	ZNF571	42748740	0.982000	0.34865	0.020000	0.16555	0.608000	0.37181	5.190000	0.65104	1.328000	0.45358	0.260000	0.18958	TGC		0.353	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		6	54	0	0	0	1	0	6	54				
OBSL1	23363	broad.mit.edu	37	2	220421348	220421348	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:220421348G>A	ENST00000404537.1	-	13	4220	c.4164C>T	c.(4162-4164)gcC>gcT	p.A1388A	RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Silent_p.A1296A|OBSL1_ENST00000603926.1_Silent_p.A1388A|OBSL1_ENST00000265317.5_Silent_p.A287A|OBSL1_ENST00000373876.1_Silent_p.A1296A	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1388	Ig-like 12.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGTGACATCGGCATCTGGTG	0.617																																						ENST00000404537.1																			0											c.(4162-4164)gcC>gcT		obscurin-like 1							56.0	61.0	59.0					2																	220421348		2158	4253	6411	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220421348G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4164C>T	2.37:g.220421348G>A						OBSL1_ENST00000265317.5_Silent_p.A287A|OBSL1_ENST00000373876.1_Silent_p.A1296A|OBSL1_ENST00000265318.4_Silent_p.A1296A|OBSL1_ENST00000603926.1_Silent_p.A1388A	p.A1388A	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	13	4220	-		Renal(207;0.0376)	1388			Ig-like 12.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.4164C>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	0.700	-0.791219	0.02884	.	.	ENSG00000124006	ENST00000456147	.	.	.	4.36	-1.23	0.09465	.	.	.	.	.	T	0.19927	0.0479	.	.	.	0.24768	N	0.992885	.	.	.	.	.	.	T	0.24728	-1.0152	4	.	.	.	.	1.5804	0.02633	0.3808:0.2447:0.2594:0.1151	.	.	.	.	L	290	.	.	P	-	2	0	OBSL1	220129592	0.000000	0.05858	0.044000	0.18714	0.130000	0.20726	-1.539000	0.02202	-0.116000	0.11893	-0.333000	0.08304	CCG		0.617	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			24	56	0	0	0	1	0	24	56				
MAGEA12	4111	broad.mit.edu	37	X	151899865	151899865	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:151899865C>T	ENST00000357916.4	-	2	1091	c.936G>A	c.(934-936)ggG>ggA	p.G312G	MAGEA12_ENST00000393900.3_Silent_p.G312G|MAGEA12_ENST00000393869.3_Silent_p.G312G|CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	312										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTCACTCTTCCCCCTCTCTAA	0.547																																						ENST00000393900.3																			0				breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(934-936)ggG>ggA		melanoma antigen family A, 12							123.0	120.0	121.0					X																	151899865		2203	4300	6503	SO:0001819	synonymous_variant	4111							g.chrX:151899865C>T		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.936G>A	X.37:g.151899865C>T						CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.G312G|MAGEA12_ENST00000357916.4_Silent_p.G312G	p.G312G	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN			3	1289	-	Acute lymphoblastic leukemia(192;6.56e-05)		312					Q9NSD3	Silent	SNP	ENST00000357916.4	37	c.936G>A	CCDS14710.1																																																																																				0.547	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		80	102	0	0	0	1	0	80	102				
NF1	4763	broad.mit.edu	37	17	29701048	29701048	+	Missense_Mutation	SNP	G	G	A	rs377393842		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:29701048G>A	ENST00000358273.4	+	58	8778	c.8395G>A	c.(8395-8397)Gtt>Att	p.V2799I	NF1_ENST00000444181.2_Missense_Mutation_p.V592I|NF1_ENST00000356175.3_Missense_Mutation_p.V2778I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2799					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAGGAGAACGTTGAACTCTC	0.493			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(8395-8397)Gtt>Att		neurofibromin 1		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	77.0	70.0	72.0		8332,8395	4.6	1.0	17		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NF1	NM_000267.3,NM_001042492.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	2778/2819,2799/2840	29701048	1,13005	2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29701048G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8395G>A	17.37:g.29701048G>A	ENSP00000351015:p.Val2799Ile	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.V2778I|NF1_ENST00000444181.2_Missense_Mutation_p.V592I	p.V2799I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	58	8778	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2799					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.8395G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423745	0.62733	0.0	1.16E-4	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.51325	3.08;3.23;2.91;0.71	5.51	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	N	0.24115	0.695	0.80722	D	1	D;D	0.57899	0.981;0.968	D;P	0.65010	0.931;0.854	T	0.40270	-0.9572	10	0.18276	T	0.48	.	14.5432	0.68011	0.0705:0.0:0.9295:0.0	.	2778;2799	P21359-2;P21359	.;NF1_HUMAN	I	2799;2778;2462;592	ENSP00000351015:V2799I;ENSP00000348498:V2778I;ENSP00000389907:V2462I;ENSP00000396481:V592I	ENSP00000348498:V2778I	V	+	1	0	NF1	26725174	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	7.597000	0.82733	1.338000	0.45544	-0.244000	0.11960	GTT		0.493	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		6	62	0	0	0	1	0	6	62				
PLSCR2	57047	broad.mit.edu	37	3	146177862	146177862	+	Missense_Mutation	SNP	C	C	T	rs374893715		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:146177862C>T	ENST00000497985.1	-	4	488	c.49G>A	c.(49-51)Gga>Aga	p.G17R	PLSCR2_ENST00000336685.2_5'UTR	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	17	Proline-rich domain (PRD). {ECO:0000250}.				phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						ACAATATGTCCGGGAGGTCCT	0.483																																						ENST00000497985.1																			0				endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.(49-51)Gga>Aga		phospholipid scramblase 2																																				SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146177862C>T		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.49G>A	3.37:g.146177862C>T	ENSP00000420132:p.Gly17Arg					PLSCR2_ENST00000336685.2_5'UTR	p.G17R	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN			4	488	-			0					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.49G>A	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	C	2.948	-0.217452	0.06101	.	.	ENSG00000163746	ENST00000535500;ENST00000497985	T	0.23147	1.92	2.77	0.931	0.19460	.	.	.	.	.	T	0.11410	0.0278	N	0.08118	0	0.18873	N	0.999986	B	0.16802	0.019	B	0.09377	0.004	T	0.36480	-0.9746	8	.	.	.	.	8.29	0.31952	0.0:0.7984:0.0:0.2016	.	37	Q7Z4L7	.	R	36;17	ENSP00000420132:G17R	.	G	-	1	0	PLSCR2	147660552	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.478000	0.06575	-0.039000	0.13602	-2.893000	0.00094	GGA		0.483	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		3	4	0	0	0	1	0	3	4				
RP1L1	94137	broad.mit.edu	37	8	10470756	10470756	+	Silent	SNP	C	C	T	rs370410297		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:10470756C>T	ENST00000382483.3	-	4	1075	c.852G>A	c.(850-852)ccG>ccA	p.P284P		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	284					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAGGGCCCACCGGGGGGTTGC	0.662																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(850-852)ccG>ccA		retinitis pigmentosa 1-like 1		C		0,3916		0,0,1958	57.0	63.0	61.0		852	1.6	0.0	8		61	1,8273		0,1,4136	no	coding-synonymous	RP1L1	NM_178857.5		0,1,6094	TT,TC,CC		0.0121,0.0,0.0082		284/2401	10470756	1,12189	1958	4137	6095	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10470756C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.852G>A	8.37:g.10470756C>T							p.P284P	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1075	-			284					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.852G>A	CCDS43708.1																																																																																				0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			7	71	0	0	0	1	0	7	71				
SLC22A3	6581	broad.mit.edu	37	6	160858039	160858039	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:160858039G>A	ENST00000275300.2	+	7	1236	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	SLC22A3_ENST00000392145.1_Missense_Mutation_p.A362T	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	362					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GTTCACAAGCGCAGTGGTGTA	0.448																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1084-1086)Gca>Aca		solute carrier family 22 (organic cation transporter), member 3							105.0	112.0	110.0					6																	160858039		2203	4300	6503	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160858039G>A	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1084G>A	6.37:g.160858039G>A	ENSP00000275300:p.Ala362Thr					SLC22A3_ENST00000275300.2_Missense_Mutation_p.A362T	p.A362T			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	7	1111	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	362					Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.1084G>A	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374959	0.61735	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.58940	0.3;0.3	5.61	5.61	0.85477	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	L	0.42744	1.35	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.60161	-0.7317	10	0.40728	T	0.16	.	17.8105	0.88614	0.0:0.0:1.0:0.0	.	362	O75751	S22A3_HUMAN	T	362	ENSP00000275300:A362T;ENSP00000375989:A362T	ENSP00000275300:A362T	A	+	1	0	SLC22A3	160778029	1.000000	0.71417	0.222000	0.23844	0.561000	0.35649	7.031000	0.76491	2.639000	0.89480	0.655000	0.94253	GCA		0.448	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		10	102	0	0	0	1	0	10	102				
AKAP4	8852	broad.mit.edu	37	X	49958838	49958838	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:49958838G>A	ENST00000376056.2	-	5	649	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.R176C|AKAP4_ENST00000376058.2_Missense_Mutation_p.R167C|AKAP4_ENST00000376064.3_Missense_Mutation_p.R167C					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATTTCTAGACGTAGGTTTTGA	0.448																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(499-501)Cgt>Tgt		A kinase (PRKA) anchor protein 4							270.0	234.0	247.0					X																	49958838		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958838G>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.499C>T	X.37:g.49958838G>A	ENSP00000365224:p.Arg167Cys					AKAP4_ENST00000376064.3_Missense_Mutation_p.R167C|AKAP4_ENST00000358526.2_Missense_Mutation_p.R176C|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.R167C	p.R167C			Q5JQC9	AKAP4_HUMAN			5	649	-	Ovarian(276;0.236)		176						Missense_Mutation	SNP	ENST00000376056.2	37	c.499C>T	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	1.413	-0.574953	0.03882	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.45668	2.55;1.37;2.55;2.55;0.89;1.31	4.7	1.75	0.24633	.	0.376759	0.19421	N	0.114692	T	0.29652	0.0740	L	0.51422	1.61	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.09377	0.001;0.004	T	0.16808	-1.0390	9	.	.	.	-1.0483	3.2939	0.06958	0.2289:0.0:0.567:0.2041	.	176;167	Q5JQC9;A6ND82	AKAP4_HUMAN;.	C	167;167;176;167;167;167	ENSP00000365224:R167C;ENSP00000365226:R167C;ENSP00000351327:R176C;ENSP00000365232:R167C;ENSP00000402403:R167C;ENSP00000412279:R167C	.	R	-	1	0	AKAP4	49845578	0.001000	0.12720	0.000000	0.03702	0.072000	0.16883	0.883000	0.28200	0.279000	0.22186	0.292000	0.19580	CGT		0.448	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		49	90	0	0	0	1	0	49	90				
SEC31A	22872	broad.mit.edu	37	4	83793139	83793139	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr4:83793139C>A	ENST00000395310.2	-	7	922	c.740G>T	c.(739-741)cGa>cTa	p.R247L	SEC31A_ENST00000505472.1_Missense_Mutation_p.R247L|SEC31A_ENST00000500777.2_Missense_Mutation_p.R247L|SEC31A_ENST00000432794.1_Missense_Mutation_p.R247L|SEC31A_ENST00000448323.1_Missense_Mutation_p.R247L|SEC31A_ENST00000508502.1_Missense_Mutation_p.R247L|SEC31A_ENST00000326950.5_Missense_Mutation_p.R247L|SEC31A_ENST00000508479.1_Missense_Mutation_p.R247L|SEC31A_ENST00000509142.1_Missense_Mutation_p.R247L|SEC31A_ENST00000355196.2_Missense_Mutation_p.R247L|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505984.1_Missense_Mutation_p.R247L|SEC31A_ENST00000348405.4_Missense_Mutation_p.R247L|SEC31A_ENST00000443462.2_Missense_Mutation_p.R242L|SEC31A_ENST00000513858.1_Missense_Mutation_p.R247L|SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000311785.7_Missense_Mutation_p.R247L	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	247	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GGAAGCAAATCGAAGATCCCA	0.473																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(739-741)cGa>cTa		SEC31 homolog A (S. cerevisiae)							126.0	98.0	107.0					4																	83793139		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83793139C>A	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.740G>T	4.37:g.83793139C>A	ENSP00000378721:p.Arg247Leu					SEC31A_ENST00000311785.7_Missense_Mutation_p.R247L|SEC31A_ENST00000443462.2_Missense_Mutation_p.R242L|SEC31A_ENST00000508479.1_Missense_Mutation_p.R247L|SEC31A_ENST00000513858.1_Missense_Mutation_p.R247L|SEC31A_ENST00000509142.1_Missense_Mutation_p.R247L|SEC31A_ENST00000508502.1_Missense_Mutation_p.R247L|SEC31A_ENST00000505984.1_Missense_Mutation_p.R247L|SEC31A_ENST00000395310.2_Missense_Mutation_p.R247L|SEC31A_ENST00000505472.1_Missense_Mutation_p.R247L|SEC31A_ENST00000500777.2_Missense_Mutation_p.R247L|SEC31A_ENST00000448323.1_Missense_Mutation_p.R247L|SEC31A_ENST00000355196.2_Missense_Mutation_p.R247L|SEC31A_ENST00000348405.4_Missense_Mutation_p.R247L|SEC31A_ENST00000326950.5_Missense_Mutation_p.R247L|SEC31A_ENST00000436790.2_5'UTR	p.R247L			O94979	SC31A_HUMAN			7	903	-		Hepatocellular(203;0.114)	247			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.740G>T	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640253	0.96693	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000505984;ENST00000508479;ENST00000503058	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67171	1.64;1.64;1.64;1.38;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;-0.25	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.058713	0.64402	D	0.000002	D	0.87063	0.6084	M	0.94021	3.485	0.80722	D	1	P;P;D;P;D;D;D;P;D	0.76494	0.947;0.954;0.973;0.895;0.998;0.965;0.999;0.852;0.971	P;P;P;P;D;D;D;P;P	0.75020	0.85;0.726;0.69;0.617;0.985;0.979;0.984;0.663;0.895	D	0.89888	0.4035	10	0.87932	D	0	-4.6315	19.718	0.96131	0.0:1.0:0.0:0.0	.	242;247;247;247;247;247;247;247;247	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979	.;.;.;.;.;.;.;.;SC31A_HUMAN	L	247;247;247;242;247;247;247;247;247;247;247;247;247;247;247;218	ENSP00000337602:R247L;ENSP00000426886:R247L;ENSP00000378721:R247L;ENSP00000408027:R242L;ENSP00000426569:R247L;ENSP00000407944:R247L;ENSP00000400926:R247L;ENSP00000325087:R247L;ENSP00000309070:R247L;ENSP00000421633:R247L;ENSP00000421464:R247L;ENSP00000424635:R247L;ENSP00000347329:R247L;ENSP00000424451:R247L;ENSP00000425999:R247L;ENSP00000425056:R218L	ENSP00000309070:R247L	R	-	2	0	SEC31A	84012163	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.814000	0.86154	2.645000	0.89757	0.585000	0.79938	CGA		0.473	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		44	14	1	0	1.32136e-16	1	1.46638e-16	44	14				
GPR63	81491	broad.mit.edu	37	6	97246772	97246772	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:97246772T>A	ENST00000229955.3	-	2	1181	c.836A>T	c.(835-837)tAc>tTc	p.Y279F	GPR63_ENST00000417980.1_Missense_Mutation_p.Y279F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ACCTTCAGGGTAGCTATGGAT	0.468																																						ENST00000229955.3																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(835-837)tAc>tTc		G protein-coupled receptor 63							94.0	92.0	93.0					6																	97246772		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246772T>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.836A>T	6.37:g.97246772T>A	ENSP00000229955:p.Tyr279Phe					GPR63_ENST00000417980.1_Missense_Mutation_p.Y279F	p.Y279F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	2	1181	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	279					Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.836A>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.755426	0.49362	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.71817	-0.6;-0.6;-0.6	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.066277	0.64402	D	0.000018	T	0.35364	0.0929	N	0.12182	0.205	0.40107	D	0.976448	P	0.41546	0.754	B	0.39258	0.295	T	0.44236	-0.9341	10	0.10111	T	0.7	-11.6644	15.3582	0.74443	0.0:0.0:0.0:1.0	.	279	Q9BZJ6	GPR63_HUMAN	F	303;279;279;279	ENSP00000393170:Y279F;ENSP00000229955:Y279F;ENSP00000358273:Y279F	ENSP00000229955:Y279F	Y	-	2	0	GPR63	97353493	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.655000	0.83696	2.097000	0.63578	0.528000	0.53228	TAC		0.468	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			19	64	0	0	0	1	0	19	64				
ENPP7	339221	broad.mit.edu	37	17	77709178	77709178	+	Missense_Mutation	SNP	G	G	A	rs199553695		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:77709178G>A	ENST00000328313.5	+	3	957	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CATCACATCCGACCACGGCAT	0.612																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(736-738)Gac>Aac		ectonucleotide pyrophosphatase/phosphodiesterase 7							110.0	89.0	96.0					17																	77709178		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709178G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.736G>A	17.37:g.77709178G>A	ENSP00000332656:p.Asp246Asn						p.D246N	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	957	+			246						Missense_Mutation	SNP	ENST00000328313.5	37	c.736G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833997	0.91036	.	.	ENSG00000182156	ENST00000328313	D	0.92048	-2.96	5.39	4.41	0.53225	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	M	0.94021	3.485	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.97987	1.0352	10	0.87932	D	0	-74.0717	15.6313	0.76912	0.0:0.0:0.8618:0.1382	.	246	Q6UWV6	ENPP7_HUMAN	N	246	ENSP00000332656:D246N	ENSP00000332656:D246N	D	+	1	0	ENPP7	75323773	1.000000	0.71417	0.934000	0.37439	0.791000	0.44710	7.909000	0.87444	1.247000	0.43917	0.655000	0.94253	GAC		0.612	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		7	94	0	0	0	1	0	7	94				
MIS18BP1	55320	broad.mit.edu	37	14	45711965	45711965	+	Splice_Site	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr14:45711965G>T	ENST00000310806.4	-	3	1115	c.657C>A	c.(655-657)taC>taA	p.Y219*	MIS18BP1_ENST00000492652.1_5'Flank	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	219					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATAGTTTACCGTAAGTTAAAT	0.343																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.e3+1		MIS18 binding protein 1							117.0	121.0	119.0					14																	45711965		2203	4300	6503	SO:0001630	splice_region_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45711965G>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.658+1C>A	14.37:g.45711965G>T							p.Y219_splice	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			3	1115	-			219					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Splice_Site	SNP	ENST00000310806.4	37	c.658_splice	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	38	6.988398	0.97983	.	.	ENSG00000129534	ENST00000310806	.	.	.	4.43	-0.759	0.11045	.	0.993878	0.08162	N	0.988373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-13.9168	7.4861	0.27435	0.566:0.0:0.434:0.0	.	.	.	.	X	219	.	ENSP00000309790:Y219X	Y	-	3	2	MIS18BP1	44781715	0.732000	0.28121	0.994000	0.49952	0.749000	0.42624	-0.712000	0.05013	-0.216000	0.10048	-0.482000	0.04802	TAC		0.343	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		Nonsense_Mutation	4	84	1	0	0.150653	1	0.152327	4	84				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	120	0	0	0	1	0	4	120				
CHEK2	11200	broad.mit.edu	37	22	29092971	29092971	+	Missense_Mutation	SNP	A	A	C	rs374660293		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr22:29092971A>C	ENST00000405598.1	-	11	1204	c.1013T>G	c.(1012-1014)cTt>cGt	p.L338R	CHEK2_ENST00000404276.1_Missense_Mutation_p.L338R|CHEK2_ENST00000328354.6_Missense_Mutation_p.L338R|CHEK2_ENST00000382578.1_Missense_Mutation_p.L247R|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Intron|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.L247R|CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000544772.1_Missense_Mutation_p.L117R|CHEK2_ENST00000382580.2_Missense_Mutation_p.L381R			O96017	CHK2_HUMAN	checkpoint kinase 2	338	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTTTTCATGAAGGTACTACAC	0.398			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(349-351)cTt>cGt	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							112.0	95.0	101.0					22																	29092971		2203	4299	6502	SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29092971A>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1013T>G	22.37:g.29092971A>C	ENSP00000386087:p.Leu338Arg					CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.L338R|CHEK2_ENST00000382580.2_Missense_Mutation_p.L381R|CHEK2_ENST00000328354.6_Missense_Mutation_p.L338R|CHEK2_ENST00000403642.1_Missense_Mutation_p.L247R|CHEK2_ENST00000382578.1_Missense_Mutation_p.L247R|CHEK2_ENST00000402731.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.L338R	p.L117R	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			11	1786	-			338		R -> G (in dbSNP:rs28909982).	FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.350T>G	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.6|25.6	4.650279|4.650279	0.87958|0.87958	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000434810|ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000447421;ENST00000425190	.|T;T;T;T;T;T;T;T;T	.|0.66280	.|-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;0.87	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86740|0.86740	0.6005|0.6005	H|H	0.98256|0.98256	4.185|4.185	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;1.0;0.999	D|D	0.91569|0.91569	0.5270|0.5270	5|10	.|0.87932	.|D	.|0	-9.1947|-9.1947	14.8342|14.8342	0.70169|0.70169	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|247;117;338;338;381	.|O96017-4;Q9HBS5;A8JZZ5;O96017;O96017-9	.|.;.;.;CHK2_HUMAN;.	V|R	82|247;117;338;338;338;381;247;271;117	.|ENSP00000372021:L247R;ENSP00000442458:L117R;ENSP00000329178:L338R;ENSP00000385747:L338R;ENSP00000386087:L338R;ENSP00000372023:L381R;ENSP00000384919:L247R;ENSP00000397478:L271R;ENSP00000390244:L117R	.|ENSP00000329178:L338R	F|L	-|-	1|2	0|0	CHEK2|CHEK2	27422971|27422971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.315000|7.315000	0.78998|0.78998	2.089000|2.089000	0.63090|0.63090	0.455000|0.455000	0.32223|0.32223	TTC|CTT		0.398	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	12	0	0	0	1	0	6	12				
NAP1L2	4674	broad.mit.edu	37	X	72433770	72433770	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:72433770C>T	ENST00000373517.3	-	1	914	c.559G>A	c.(559-561)Ggt>Agt	p.G187S	NAP1L2_ENST00000536638.1_Missense_Mutation_p.G45S	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	187	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.G187S(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCCTCATTACCATACATCTCT	0.408																																						ENST00000373517.3																			1	Substitution - Missense(1)	p.G187S(1)	kidney(1)	NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(559-561)Ggt>Agt		nucleosome assembly protein 1-like 2							181.0	150.0	160.0					X																	72433770		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433770C>T	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.559G>A	X.37:g.72433770C>T	ENSP00000362616:p.Gly187Ser					NAP1L2_ENST00000536638.1_Missense_Mutation_p.G45S	p.G187S	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	914	-	Renal(35;0.156)		187			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.559G>A	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	c	9.446	1.089216	0.20390	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.50277	1.0;0.75	3.1	1.31	0.21738	.	0.723745	0.11254	U	0.583319	T	0.36303	0.0962	L	0.55481	1.735	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28870	-1.0030	10	0.18710	T	0.47	-0.3023	4.5631	0.12170	0.0:0.6767:0.0:0.3233	.	187	Q9ULW6	NP1L2_HUMAN	S	187;45	ENSP00000362616:G187S;ENSP00000441555:G45S	ENSP00000362616:G187S	G	-	1	0	NAP1L2	72350495	0.003000	0.15002	0.011000	0.14972	0.856000	0.48823	0.116000	0.15561	0.213000	0.20722	-0.198000	0.12761	GGT		0.408	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		9	81	0	0	0	1	0	9	81				
PIK3CA	5290	broad.mit.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:178916936G>A	ENST00000263967.3	+	2	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		19	Substitution - Missense(14)|Deletion - In frame(5)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)	endometrium(7)|large_intestine(5)|lung(4)|breast(2)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(322-324)cGt>cAt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							87.0	82.0	84.0					3																	178916936		1822	4071	5893	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916936G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.323G>A	3.37:g.178916936G>A	ENSP00000263967:p.Arg108His	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R108H	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	480	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		108			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.323G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677294	0.88445	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74209	0.8;-0.82	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84808	0.5554	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.83714	0.0189	9	.	.	.	-11.9048	19.4271	0.94746	0.0:0.0:1.0:0.0	.	108	P42336	PK3CA_HUMAN	H	108	ENSP00000263967:R108H;ENSP00000417479:R108H	.	R	+	2	0	PIK3CA	180399630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.584000	0.87258	0.555000	0.69702	CGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			58	37	0	0	0	1	0	58	37				
MMP21	118856	broad.mit.edu	37	10	127464289	127464289	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:127464289C>T	ENST00000368808.3	-	1	101	c.102G>A	c.(100-102)tcG>tcA	p.S34S		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	34					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	GCTCCAGGTCCGAGCGGTCCC	0.677																																						ENST00000368808.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(100-102)tcG>tcA		matrix metallopeptidase 21							72.0	63.0	66.0					10																	127464289		2203	4300	6503	SO:0001819	synonymous_variant	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127464289C>T	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.102G>A	10.37:g.127464289C>T							p.S34S	NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN			1	101	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	34					Q5VZP9|Q8NG02	Silent	SNP	ENST00000368808.3	37	c.102G>A	CCDS7647.1																																																																																				0.677	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			19	46	0	0	0	1	0	19	46				
SBK1	388228	broad.mit.edu	37	16	28331566	28331566	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr16:28331566G>A	ENST00000341901.4	+	4	1388	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						ATGACGCGCCGCGTGGGCTGC	0.726																																						ENST00000341901.4																			0				kidney(1)|lung(3)|ovary(1)	5						c.(598-600)cGc>cAc		SH3 domain binding kinase 1							9.0	12.0	11.0					16																	28331566		2128	4186	6314	SO:0001583	missense	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28331566G>A		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.599G>A	16.37:g.28331566G>A	ENSP00000343248:p.Arg200His						p.R200H	NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN			4	1388	+			200			Protein kinase.			Missense_Mutation	SNP	ENST00000341901.4	37	c.599G>A	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633221	0.87660	.	.	ENSG00000188322	ENST00000341901	T	0.66099	-0.19	4.31	3.34	0.38264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.133360	0.53938	D	0.000052	T	0.59487	0.2197	L	0.35593	1.075	0.43390	D	0.995508	D	0.76494	0.999	D	0.65773	0.938	T	0.56159	-0.8025	10	0.12766	T	0.61	-19.2587	5.8159	0.18492	0.2286:0.0:0.7714:0.0	.	200	Q52WX2	SBK1_HUMAN	H	200	ENSP00000343248:R200H	ENSP00000343248:R200H	R	+	2	0	SBK1	28239067	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.802000	0.62539	1.920000	0.55613	0.462000	0.41574	CGC		0.726	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		17	14	0	0	0	1	0	17	14				
EFR3A	23167	broad.mit.edu	37	8	132980594	132980594	+	Missense_Mutation	SNP	G	G	A	rs148528328		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:132980594G>A	ENST00000254624.5	+	9	1133	c.908G>A	c.(907-909)cGt>cAt	p.R303H	EFR3A_ENST00000519656.1_Missense_Mutation_p.R267H|EFR3A_ENST00000334503.4_Missense_Mutation_p.R303H	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	303						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTTGATGCTCGTAAAAAAGAT	0.428																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(907-909)cGt>cAt		EFR3 homolog A (S. cerevisiae)		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	94.0	98.0		908	4.6	1.0	8	dbSNP_134	98	0,8600		0,0,4300	no	missense	EFR3A	NM_015137.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	303/822	132980594	1,13005	2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132980594G>A	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.908G>A	8.37:g.132980594G>A	ENSP00000254624:p.Arg303His					EFR3A_ENST00000334503.4_Missense_Mutation_p.R303H|EFR3A_ENST00000519656.1_Missense_Mutation_p.R267H	p.R303H	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		9	1133	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		303					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.908G>A	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157962	0.38119	2.27E-4	0.0	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.44881	0.91;0.91;0.91	5.51	4.64	0.57946	Armadillo-like helical (1);Armadillo-type fold (1);	0.439122	0.26442	N	0.024356	T	0.13457	0.0326	N	0.00538	-1.39	0.29481	N	0.856361	B	0.02656	0.0	B	0.04013	0.001	T	0.09862	-1.0655	10	0.28530	T	0.3	-0.2608	9.6938	0.40145	0.1572:0.0:0.8428:0.0	.	303	Q14156	EFR3A_HUMAN	H	303;303;303;267	ENSP00000254624:R303H;ENSP00000334769:R303H;ENSP00000428086:R267H	ENSP00000254624:R303H	R	+	2	0	EFR3A	133049776	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.046000	0.76592	1.323000	0.45263	-0.136000	0.14681	CGT		0.428	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		18	66	0	0	0	1	0	18	66				
P2RY10	27334	broad.mit.edu	37	X	78216443	78216443	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:78216443A>T	ENST00000171757.2	+	4	706	c.426A>T	c.(424-426)agA>agT	p.R142S	P2RY10_ENST00000544091.1_Missense_Mutation_p.R142S|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TCAGGGCCAGAGACTGGAAGC	0.498																																						ENST00000171757.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(424-426)agA>agT		purinergic receptor P2Y, G-protein coupled, 10							105.0	95.0	98.0					X																	78216443		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216443A>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.426A>T	X.37:g.78216443A>T	ENSP00000171757:p.Arg142Ser					P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.R142S	p.R142S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN			4	706	+			142					D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.426A>T	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	A	6.064	0.380039	0.11466	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.72051	-0.62;-0.62	4.73	0.788	0.18601	GPCR, rhodopsin-like superfamily (1);	0.117908	0.51477	D	0.000089	T	0.58090	0.2098	M	0.62154	1.92	0.27539	N	0.950864	B	0.26318	0.146	B	0.29353	0.101	T	0.40720	-0.9548	10	0.10111	T	0.7	.	4.6658	0.12664	0.5707:0.156:0.2733:0.0	.	142	O00398	P2Y10_HUMAN	S	142	ENSP00000443138:R142S;ENSP00000171757:R142S	ENSP00000171757:R142S	R	+	3	2	P2RY10	78103099	0.855000	0.29742	0.872000	0.34217	0.033000	0.12548	1.149000	0.31626	0.201000	0.20466	-0.545000	0.04230	AGA		0.498	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			9	98	0	0	0	1	0	9	98				
PTEN	5728	broad.mit.edu	37	10	89624296	89624296	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:89624296G>C	ENST00000371953.3	+	1	1427	c.70G>C	c.(70-72)Gac>Cac	p.D24H	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	24	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.D24Y(4)|p.D24N(2)|p.D24fs*20(2)|p.D24_L25del(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)		ATTCGACTTAGACTTGACCTG	0.463		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"""		59	Whole gene deletion(37)|Unknown(13)|Substitution - Missense(6)|Insertion - Frameshift(2)|Deletion - In frame(1)	p.0?(37)|p.?(13)|p.D24Y(4)|p.D24N(2)|p.D24fs*20(2)|p.D24_L25del(1)	prostate(14)|central_nervous_system(12)|skin(7)|lung(6)|ovary(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|large_intestine(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	GRCh37	CM993669	PTEN	M		c.(70-72)Gac>Cac		phosphatase and tensin homolog							167.0	158.0	161.0					10																	89624296		2203	4300	6503	SO:0001583	missense	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.chr10:89624296G>C	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.70G>C	10.37:g.89624296G>C	ENSP00000361021:p.Asp24His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.D24H	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	1427	+		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)	24			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.70G>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528747	0.85706	.	.	ENSG00000171862	ENST00000371953	D	0.98978	-5.29	5.28	5.28	0.74379	Phosphatase tensin type (1);	0.107942	0.64402	D	0.000010	D	0.99287	0.9751	H	0.95260	3.645	0.80722	D	1	D	0.54964	0.969	P	0.51918	0.684	D	0.99239	1.0884	9	.	.	.	-0.0364	17.6706	0.88216	0.0:0.0:1.0:0.0	.	24	P60484	PTEN_HUMAN	H	24	ENSP00000361021:D24H	.	D	+	1	0	PTEN	89614276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.855000	0.92236	2.467000	0.83353	0.561000	0.74099	GAC		0.463	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		30	47	0	0	0	1	0	30	47				
GCK	2645	broad.mit.edu	37	7	44185169	44185169	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:44185169G>A	ENST00000403799.3	-	9	1649	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C	GCK_ENST00000437084.1_Missense_Mutation_p.R377C|GCK_ENST00000395796.3_Missense_Mutation_p.R393C|GCK_ENST00000345378.2_Missense_Mutation_p.R395C	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	394	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGGCTCTCGCGCATGCGGTTG	0.692																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(1180-1182)Cgc>Tgc		glucokinase (hexokinase 4)							23.0	24.0	24.0					7																	44185169		2201	4299	6500	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44185169G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1180C>T	7.37:g.44185169G>A	ENSP00000384247:p.Arg394Cys					GCK_ENST00000395796.3_Missense_Mutation_p.R393C|GCK_ENST00000437084.1_Missense_Mutation_p.R377C|GCK_ENST00000345378.2_Missense_Mutation_p.R395C	p.R394C	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			9	1649	-			394					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.1180C>T	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550935	0.86127	.	.	ENSG00000106633	ENST00000336642;ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8	5.59	3.6	0.41247	Hexokinase, C-terminal (1);	0.055203	0.64402	D	0.000002	D	0.98839	0.9608	M	0.86651	2.83	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;P;D;D;D	0.69142	0.932;0.907;0.916;0.962;0.932	D	0.98583	1.0651	10	0.87932	D	0	-38.7371	14.5126	0.67797	0.0:0.0:0.7386:0.2614	.	394;395;393;377;394	P35557;P35557-2;P35557-3;C9JQD1;A7LFL1	HXK4_HUMAN;.;.;.;.	C	78;394;393;395;377	ENSP00000338009:R78C;ENSP00000384247:R394C;ENSP00000379142:R393C;ENSP00000223366:R395C;ENSP00000402840:R377C	ENSP00000338009:R78C	R	-	1	0	GCK	44151694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.866000	0.39489	2.622000	0.88805	0.561000	0.74099	CGC		0.692	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			9	20	0	0	0	1	0	9	20				
PTPN23	25930	broad.mit.edu	37	3	47451557	47451557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:47451557C>T	ENST00000265562.4	+	20	2346	c.2269C>T	c.(2269-2271)Cga>Tga	p.R757*	PTPN23_ENST00000431726.1_Nonsense_Mutation_p.R631*	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	757	Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTGGCCCACGACTGCCTGA	0.677																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(2269-2271)Cga>Tga		protein tyrosine phosphatase, non-receptor type 23							40.0	37.0	38.0					3																	47451557		2203	4297	6500	SO:0001587	stop_gained	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47451557C>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2269C>T	3.37:g.47451557C>T	ENSP00000265562:p.Arg757*					PTPN23_ENST00000431726.1_Nonsense_Mutation_p.R631*	p.R757*	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	2346	+			757			Pro-rich.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Nonsense_Mutation	SNP	ENST00000265562.4	37	c.2269C>T	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290010	0.80914	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	.	.	.	3.33	2.31	0.28768	.	0.372789	0.23658	N	0.045844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-15.7271	9.5485	0.39295	0.0:0.8664:0.0:0.1336	.	.	.	.	X	722;757	.	ENSP00000265562:R757X	R	+	1	2	PTPN23	47426561	0.859000	0.29813	0.862000	0.33874	0.336000	0.28762	1.889000	0.39718	1.691000	0.51100	0.455000	0.32223	CGA		0.677	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		3	14	0	0	0	1	0	3	14				
LRP1	4035	broad.mit.edu	37	12	57572304	57572304	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:57572304C>T	ENST00000243077.3	+	27	4990	c.4524C>T	c.(4522-4524)acC>acT	p.T1508T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1508					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACAAGTGGACCGGCCACAATG	0.617																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4522-4524)acC>acT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						106.0	99.0	102.0					12																	57572304		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572304C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4524C>T	12.37:g.57572304C>T							p.T1508T	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4990	+			1508					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.4524C>T	CCDS8932.1																																																																																				0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		30	137	0	0	0	1	0	30	137				
POMT1	10585	broad.mit.edu	37	9	134385763	134385763	+	Silent	SNP	C	C	T	rs191404622	byFrequency	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr9:134385763C>T	ENST00000372228.3	+	9	1061	c.882C>T	c.(880-882)caC>caT	p.H294H	POMT1_ENST00000404875.2_Silent_p.H155H|POMT1_ENST00000354713.4_Silent_p.H242H|POMT1_ENST00000341012.7_Silent_p.H218H|POMT1_ENST00000419118.2_Silent_p.H120H|POMT1_ENST00000541219.1_Silent_p.H50H|POMT1_ENST00000423007.1_Silent_p.H272H|POMT1_ENST00000402686.3_Silent_p.H272H	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	294					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CTGGGCCCCACGACCAAATCA	0.542													C|||	2	0.000399361	0.0	0.0	5008	,	,		18437	0.002		0.0	False		,,,				2504	0.0					ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(814-816)caC>caT		protein-O-mannosyltransferase 1		C	,,,,	0,4406		0,0,2203	103.0	79.0	87.0		816,654,816,465,882	-0.6	1.0	9		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	POMT1	NM_001077365.1,NM_001077366.1,NM_001136113.1,NM_001136114.1,NM_007171.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	272/726,218/672,272/726,155/609,294/748	134385763	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134385763C>T	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.882C>T	9.37:g.134385763C>T						POMT1_ENST00000402686.3_Silent_p.H272H|POMT1_ENST00000404875.2_Silent_p.H155H|POMT1_ENST00000541219.1_Silent_p.H50H|POMT1_ENST00000354713.4_Silent_p.H242H|POMT1_ENST00000419118.2_Silent_p.H120H|POMT1_ENST00000372228.3_Silent_p.H294H|POMT1_ENST00000341012.7_Silent_p.H218H	p.H272H	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	9	1258	+		Myeloproliferative disorder(178;0.204)	294					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.816C>T	CCDS6943.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	38	6.983790	0.97983	0.0	1.16E-4	ENSG00000130714	ENST00000372221;ENST00000415075	.	.	.	5.39	-0.644	0.11479	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-20.9745	9.0879	0.36592	0.0:0.2601:0.0:0.7399	.	.	.	.	X	70	.	ENSP00000361295:R70X	R	+	1	2	POMT1	133375584	0.043000	0.20138	0.998000	0.56505	0.983000	0.72400	-0.773000	0.04689	-0.023000	0.13963	0.561000	0.74099	CGA		0.542	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		22	29	0	0	0	1	0	22	29				
LYST	1130	broad.mit.edu	37	1	235969411	235969411	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:235969411G>C	ENST00000389794.3	-	6	3199	c.3025C>G	c.(3025-3027)Caa>Gaa	p.Q1009E	LYST_ENST00000536965.1_Missense_Mutation_p.Q1009E|LYST_ENST00000389793.2_Missense_Mutation_p.Q1009E			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1009					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTTTTCCTTGCTCCTCTTTG	0.348																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(3025-3027)Caa>Gaa		lysosomal trafficking regulator							84.0	93.0	90.0					1																	235969411		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969411G>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3025C>G	1.37:g.235969411G>C	ENSP00000374444:p.Gln1009Glu					LYST_ENST00000536965.1_Missense_Mutation_p.Q1009E|LYST_ENST00000389793.2_Missense_Mutation_p.Q1009E	p.Q1009E			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	3199	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1009					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.3025C>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	4.289	0.052844	0.08291	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.61392	0.11;0.11;1.23	5.04	4.09	0.47781	.	0.346270	0.30126	N	0.010346	T	0.40570	0.1122	L	0.36672	1.1	0.09310	N	1	B;P	0.35174	0.141;0.488	B;B	0.26693	0.072;0.051	T	0.22347	-1.0219	10	0.15066	T	0.55	.	12.7465	0.57283	0.0:0.1641:0.8359:0.0	.	1009;1009	Q99698-3;Q99698	.;LYST_HUMAN	E	1009	ENSP00000374444:Q1009E;ENSP00000374443:Q1009E;ENSP00000438315:Q1009E	ENSP00000374443:Q1009E	Q	-	1	0	LYST	234036034	0.977000	0.34250	0.028000	0.17463	0.957000	0.61999	2.324000	0.43831	2.614000	0.88457	0.563000	0.77884	CAA		0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			36	50	0	0	0	1	0	36	50				
ASPSCR1	79058	broad.mit.edu	37	17	79974988	79974988	+	Splice_Site	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:79974988G>A	ENST00000306739.4	+	15	1744	c.1647G>A	c.(1645-1647)ccG>ccA	p.P549P	ASPSCR1_ENST00000580534.1_Splice_Site_p.P497P|ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306729.7_Splice_Site_p.P643P|STRA13_ENST00000583767.1_5'Flank	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	549					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGAAGCTGCCGGGTACTGCGG	0.721			T	TFE3	alveolar soft part sarcoma																																	ENST00000306729.7				Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.e16+1		alveolar soft part sarcoma chromosome region, candidate 1																																				SO:0001630	splice_region_variant	79058						protein binding	g.chr17:79974988G>A	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1648+1G>A	17.37:g.79974988G>A						ASPSCR1_ENST00000306739.4_Splice_Site_p.P549_splice|ASPSCR1_ENST00000580534.1_Splice_Site_p.P497_splice|ASPSCR1_ENST00000582404.1_3'UTR	p.P643_splice	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		16	2026	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		549					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Splice_Site	SNP	ENST00000306739.4	37	c.1930_splice	CCDS11796.1																																																																																				0.721	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083	Silent	11	20	0	0	0	1	0	11	20				
ARID1A	8289	broad.mit.edu	37	1	27057848	27057848	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:27057848delC	ENST00000324856.7	+	3	1927	c.1556delC	c.(1555-1557)tccfs	p.S519fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S136fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S519fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	519					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCCATACTCCCAGCAGCCA	0.632			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1555-1557)tcfs		AT rich interactive domain 1A (SWI-like)							273.0	255.0	261.0					1																	27057848		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057848delC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1556delC	1.37:g.27057848delC	ENSP00000320485:p.Ser519fs					ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S136fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S519fs	p.S519fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	1927	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	519					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.1556delC	CCDS285.1																																																																																				0.632	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		152	284						152	284	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27106527	27106528	+	Frame_Shift_Ins	INS	-	-	GAGT			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:27106527_27106528insGAGT	ENST00000324856.7	+	20	6509_6510	c.6138_6139insGAGT	c.(6139-6141)gagfs	p.-2047fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.-375fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.-1664fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.-1830fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.E2047*(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAACAAAGTGGAGTGGTGGTG	0.55			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Substitution - Nonsense(3)	p.E2047*(3)	endometrium(2)|ovary(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(6136-6141)gtagtgfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106527_27106528insGAGT	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6139_6142dupGAGT	1.37:g.27106528_27106531dupGAGT	ENSP00000320485:p.Glu2047fs					ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.V1664fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.V375fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.V1830fs	p.V2047fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6509_6510	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2047					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.6138_6139insGAGT	CCDS285.1																																																																																				0.550	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		41	84						41	84	---	---	---	---
AC018890.6	0	broad.mit.edu	37	2	175584494	175584494	+	RNA	DEL	T	T	-			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:175584494delT	ENST00000442996.1	+	0	217																											TTGCTTCTGATTTTTTTTTTT	0.532											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175584494delT																													2.37:g.175584494delT			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.532	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			4	4						4	4	---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241696841	241696843	+	Intron	DEL	TCC	TCC	-	rs537608637|rs10594016|rs533559120		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:241696841_241696843delTCC	ENST00000320389.7	-	25	2714				KIF1A_ENST00000498729.2_In_Frame_Del_p.E917del	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ctcctcctcatcctcctcctcct	0.675																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2749-2754)gat>ga		kinesin family member 1A																																				SO:0001627	intron_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241696841_241696843delTCC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2555+933GGA>-	2.37:g.241696850_241696852delTCC						KIF1A_ENST00000320389.7_Intron	p.ED917del	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	27	2997_2999	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	697					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	In_Frame_Del	DEL	ENST00000320389.7	37	c.2751_2753delGGA	CCDS46561.1																																																																																				0.675	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		3	6						3	6	---	---	---	---
AC004540.5	0	broad.mit.edu	37	7	26518689	26518690	+	lincRNA	DEL	CT	CT	-	rs537383445		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:26518689_26518690delCT	ENST00000418758.2	+	0	468																											CCTCATtttcctctcccacctg	0.579																																						ENST00000418758.2																			0																																																			0							g.chr7:26518689_26518690delCT																													7.37:g.26518691_26518692delCT														0	468	+									RNA	DEL	ENST00000418758.2	37																																																																																						0.579	AC004540.5-201	KNOWN	basic	lincRNA	lincRNA				2	4						2	4	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64532452	64532452	+	RNA	DEL	T	T	-	rs545307202|rs397890951	byFrequency	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:64532452delT	ENST00000426828.1	+	0	1228				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		atgcccagccttttttttttt	0.408													|||unknown(HR)	2890	0.577077	0.5333	0.7089	5008	,	,		11284	0.4891		0.6193	False		,,,				2504	0.59					ENST00000426828.1																			0																																																			0							g.chr7:64532452delT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64532452delT								NR_033416.1						0	1228	+									RNA	DEL	ENST00000426828.1	37																																																																																						0.408	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			3	4						3	4	---	---	---	---
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:128750605_128750607delCAG	ENST00000259523.6	+	2	1302_1304	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_ENST00000377970.2_In_Frame_Del_p.Q52del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	37	Poly-Gln.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		1	Substitution - Missense(1)	p.Q33H(1)	skin(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(142-144)del		v-myc avian myelocytomatosis viral oncogene homolog																																				SO:0001651	inframe_deletion	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750605_128750607delCAG		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.97_99delCAG	8.37:g.128750614_128750616delCAG	ENSP00000259523:p.Gln37del		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000524013.1_In_Frame_Del_p.Q51del|MYC_ENST00000259523.6_In_Frame_Del_p.Q37del	p.Q52del	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	652_654	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	37					A8WFE7|P01107|Q14026	In_Frame_Del	DEL	ENST00000259523.6	37	c.142_144delCAG																																																																																					0.611	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			7	246						7	246	---	---	---	---
OR11H12	440153	broad.mit.edu	37	14	19377911	19377911	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr14:19377911delC	ENST00000550708.1	+	1	390	c.318delC	c.(316-318)aacfs	p.N106fs		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGAAAAAAAACATCTCCTTTG	0.388																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(316-318)aafs		olfactory receptor, family 11, subfamily H, member 12							4.0	4.0	4.0					14																	19377911		1035	2474	3509	SO:0001589	frameshift_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377911delC		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.318delC	14.37:g.19377911delC	ENSP00000449002:p.Asn106fs						p.N106fs	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	390	+	all_cancers(95;0.00108)		106						Frame_Shift_Del	DEL	ENST00000550708.1	37	c.318delC	CCDS32017.1																																																																																				0.388	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		22	82						22	82	---	---	---	---
KTN1-AS1	100129075	broad.mit.edu	37	14	56014174	56014174	+	RNA	DEL	G	G	-	rs375963888|rs372958232		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr14:56014174delG	ENST00000554558.1	-	0	364							Q86SY8	KTAS1_HUMAN	KTN1 antisense RNA 1																		aaaaaaaaaagaaTTGGCACA	0.443																																						ENST00000554558.1																			0																																																			0							g.chr14:56014174delG			14q22.3	2012-10-12	2012-08-15	2011-12-07	ENSG00000186615	ENSG00000186615		"""Long non-coding RNAs"""	19842	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 33"", ""KTN1 antisense RNA 1 (non-protein coding)"""	C14orf33			Standard	NR_027123		Approved		uc001xbz.2	Q86SY8	OTTHUMG00000171057		14.37:g.56014174delG														0	364	-									RNA	DEL	ENST00000554558.1	37																																																																																						0.443	KTN1-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000411452.1	NR_027123		7	6						7	6	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120	byFrequency	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr16:29113498delT	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							AGGAGGTGGAttttttttttc	0.542													|||unknown(NO_COVERAGE)	2145	0.428315	0.5507	0.4856	5008	,	,		13214	0.248		0.4334	False		,,,				2504	0.4029					ENST00000564580.1																			0																																																			0							g.chr16:29113498delT																													16.37:g.29113498delT														0	1360	+									RNA	DEL	ENST00000562618.1	37																																																																																						0.542	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			8	42						8	42	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354|rs73995411|rs57786397|rs369163670	byFrequency	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:56056605_56056607delTGC	ENST00000581208.1	-	5	1084_1086	c.1044_1046delGCA	c.(1042-1047)cagcaa>caa	p.348_349QQ>Q	VEZF1_ENST00000584396.1_In_Frame_Del_p.339_340QQ>Q	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	348	Poly-Gln.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1015-1020)caa>ca		vascular endothelial zinc finger 1																																				SO:0001651	inframe_deletion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056605_56056607delTGC	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1044_1046delGCA	17.37:g.56056614_56056616delTGC	ENSP00000462337:p.Gln354del					VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del	p.QQ343del			Q14119	VEZF1_HUMAN			5	1105_1107	-			352			Poly-Gln.			In_Frame_Del	DEL	ENST00000581208.1	37	c.1017_1019delGCA	CCDS32687.1																																																																																				0.463	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			8	175						8	175	---	---	---	---
CHMP2A	27243	broad.mit.edu	37	19	59063715	59063716	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:59063715_59063716delAC	ENST00000600118.1	-	2	683_684	c.258_259delGT	c.(256-261)gtgtccfs	p.S87fs	CHMP2A_ENST00000312547.2_Frame_Shift_Del_p.S87fs|CHMP2A_ENST00000601220.1_Frame_Shift_Del_p.S87fs			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	87	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATCTTGAGGGACACAGCCTGGA	0.545																																						ENST00000600118.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7						c.(256-261)gtccfs		charged multivesicular body protein 2A																																				SO:0001589	frameshift_variant	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063715_59063716delAC	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.258_259delGT	19.37:g.59063717_59063718delAC	ENSP00000469240:p.Ser87fs					CHMP2A_ENST00000601220.1_Frame_Shift_Del_p.VS86fs|CHMP2A_ENST00000312547.2_Frame_Shift_Del_p.VS86fs	p.VS86fs			O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	2	683_684	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	86			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Frame_Shift_Del	DEL	ENST00000600118.1	37	c.258_259delGT	CCDS12986.1																																																																																				0.545	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		55	123						55	123	---	---	---	---
