#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
YY2	404281	broad.mit.edu	37	X	21875031	21875031	+	Silent	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:21875031A>G	ENST00000429584.2	+	1	927	c.429A>G	c.(427-429)aaA>aaG	p.K143K	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						agcccagcaaaaagcccagcG	0.602																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(427-429)aaA>aaG		YY2 transcription factor							48.0	43.0	44.0					X																	21875031		2203	4300	6503	SO:0001819	synonymous_variant	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875031A>G	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.429A>G	X.37:g.21875031A>G						MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	p.K143K	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	927	+			143					B2RP10|Q6Q1S4	Silent	SNP	ENST00000429584.2	37	c.429A>G	CCDS14202.1																																																																																				0.602	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		3	48	0	0	0	1	0	3	48				
OLFM2	93145	broad.mit.edu	37	19	9968436	9968436	+	Silent	SNP	C	C	A	rs568684916		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:9968436C>A	ENST00000264833.4	-	3	500	c.315G>T	c.(313-315)gcG>gcT	p.A105A	OLFM2_ENST00000590841.1_Silent_p.A27A	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	105					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCCGGAGCCGCGCATCCAGGC	0.597																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(313-315)gcG>gcT		olfactomedin 2							46.0	48.0	48.0					19																	9968436		2203	4300	6503	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9968436C>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.315G>T	19.37:g.9968436C>A						OLFM2_ENST00000590841.1_Silent_p.A27A	p.A105A	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			3	500	-			105					Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.315G>T	CCDS12221.1																																																																																				0.597	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			10	28	1	0	6.44725e-10	1	6.62886e-10	10	28				
DMD	1756	broad.mit.edu	37	X	31947768	31947768	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:31947768T>C	ENST00000357033.4	-	47	7063	c.6857A>G	c.(6856-6858)gAa>gGa	p.E2286G	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2282G|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR	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	2286					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)				ATCTTGCTCTTCTGGGCTTAT	0.428																																						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.(6856-6858)gAa>gGa		dystrophin							226.0	177.0	194.0					X																	31947768		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:31947768T>C	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.6857A>G	X.37:g.31947768T>C	ENSP00000354923:p.Glu2286Gly					DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2282G|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR	p.E2286G	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			47	7063	-		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)	2286					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6857A>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.358356	0.41801	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.52057	0.68;0.68	5.15	3.98	0.46160	.	0.000000	0.38111	U	0.001819	T	0.32675	0.0837	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B	0.09022	0.002;0.001;0.002;0.002;0.002	B;B;B;B;B	0.10450	0.003;0.005;0.005;0.005;0.005	T	0.18555	-1.0333	10	0.59425	D	0.04	.	9.6903	0.40125	0.0:0.0835:0.0:0.9165	.	2278;2286;2282;945;942	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	G	2278;945;942;2282;2286;2286;2163	ENSP00000367948:E2282G;ENSP00000354923:E2286G	ENSP00000354923:E2286G	E	-	2	0	DMD	31857689	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.204000	0.51082	1.811000	0.52892	0.481000	0.45027	GAA		0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		52	86	0	0	0	1	0	52	86				
TNXB	7148	broad.mit.edu	37	6	32037587	32037587	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr6:32037587C>T	ENST00000375244.3	-	15	5531	c.5330G>A	c.(5329-5331)cGt>cAt	p.R1777H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1777H			P22105	TENX_HUMAN	tenascin XB	1859	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R1864H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCCCCAGACGGGGTTTTGG	0.582																																						ENST00000375244.3																			1	Substitution - Missense(1)	p.R1864H(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5329-5331)cGt>cAt		tenascin XB							26.0	28.0	27.0					6																	32037587		1933	4136	6069	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32037587C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5330G>A	6.37:g.32037587C>T	ENSP00000364393:p.Arg1777His					TNXB_ENST00000375247.2_Missense_Mutation_p.R1777H	p.R1777H			P22105	TENX_HUMAN			15	5531	-			1859			Fibronectin type-III 10.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5330G>A		.	.	.	.	.	.	.	.	.	.	C	18.39	3.613912	0.66672	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57436	0.57;0.4	5.37	2.63	0.31362	.	0.775780	0.11180	N	0.591100	T	0.34366	0.0895	M	0.85710	2.77	0.09310	N	1	P	0.35821	0.523	B	0.32149	0.141	T	0.31052	-0.9957	10	0.48119	T	0.1	.	7.5404	0.27735	0.0:0.6572:0.0:0.3428	.	1777	P22105-3	.	H	1777	ENSP00000364393:R1777H;ENSP00000364396:R1777H	ENSP00000364393:R1777H	R	-	2	0	TNXB	32145565	0.000000	0.05858	0.096000	0.21009	0.988000	0.76386	-0.167000	0.09940	0.265000	0.21872	0.491000	0.48974	CGT		0.582	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	15	0	0	0	1	0	5	15				
ZNF607	84775	broad.mit.edu	37	19	38190049	38190049	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:38190049T>G	ENST00000355202.4	-	5	1578	c.983A>C	c.(982-984)cAg>cCg	p.Q328P	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.Q327P	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	328					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)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATAAATTCTCTGATGCATGGT	0.398																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(982-984)cAg>cCg		zinc finger protein 607							119.0	119.0	119.0					19																	38190049		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190049T>G	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.983A>C	19.37:g.38190049T>G	ENSP00000347338:p.Gln328Pro					ZNF607_ENST00000395835.3_Missense_Mutation_p.Q327P|CTD-2528L19.4_ENST00000586606.2_Intron	p.Q328P	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1578	-			328					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.983A>C	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.305534	0.23736	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.61742	0.08;0.08	1.63	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75532	0.3862	M	0.89534	3.04	0.22500	N	0.999044	B;D	0.71674	0.341;0.998	B;D	0.72982	0.092;0.979	T	0.61257	-0.7099	9	0.87932	D	0	.	5.7976	0.18396	0.0:0.0:0.2716:0.7284	.	328;327	Q96SK3;F5H141	ZN607_HUMAN;.	P	328;327	ENSP00000347338:Q328P;ENSP00000438015:Q327P	ENSP00000347338:Q328P	Q	-	2	0	ZNF607	42881889	0.000000	0.05858	0.132000	0.22025	0.286000	0.27126	0.690000	0.25451	0.733000	0.32492	0.459000	0.35465	CAG		0.398	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		9	161	0	0	0	1	0	9	161				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		4	223	0	0	0	1	0	4	223				
ILVBL	10994	broad.mit.edu	37	19	15233798	15233798	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:15233798C>T	ENST00000263383.3	-	5	648	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.R63Q	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	170						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ACAGAGTGGCCGGAAAAGGGA	0.632																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(508-510)cGg>cAg		ilvB (bacterial acetolactate synthase)-like							65.0	70.0	68.0					19																	15233798		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15233798C>T	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.509G>A	19.37:g.15233798C>T	ENSP00000263383:p.Arg170Gln					ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.R63Q	p.R170Q	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			5	648	-			170					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.509G>A	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.979060	0.34942	.	.	ENSG00000105135	ENST00000263383;ENST00000269733;ENST00000527093	T	0.35973	1.28	4.23	3.2	0.36748	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.195733	0.46758	N	0.000272	T	0.27454	0.0674	L	0.48218	1.51	0.38951	D	0.958358	P	0.39831	0.69	B	0.36845	0.234	T	0.11470	-1.0586	10	0.56958	D	0.05	-21.4865	6.4569	0.21934	0.0:0.7815:0.0:0.2185	.	170	A1L0T0	ILVBL_HUMAN	Q	170	ENSP00000263383:R170Q	ENSP00000263383:R170Q	R	-	2	0	ILVBL	15094798	1.000000	0.71417	0.998000	0.56505	0.166000	0.22503	1.289000	0.33307	1.014000	0.39417	-0.379000	0.06801	CGG		0.632	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		6	79	0	0	0	1	0	6	79				
DHX36	170506	broad.mit.edu	37	3	154032922	154032922	+	Silent	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr3:154032922T>C	ENST00000496811.1	-	3	596	c.516A>G	c.(514-516)caA>caG	p.Q172Q	DHX36_ENST00000329463.5_Silent_p.Q172Q|DHX36_ENST00000544526.1_Silent_p.Q172Q|DHX36_ENST00000308361.6_Silent_p.Q172Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	172					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTTCATTTTCTTGCAAGAGAT	0.308																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(514-516)caA>caG		DEAH (Asp-Glu-Ala-His) box polypeptide 36							65.0	67.0	66.0					3																	154032922		2202	4300	6502	SO:0001819	synonymous_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032922T>C	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.516A>G	3.37:g.154032922T>C						DHX36_ENST00000329463.5_Silent_p.Q172Q|DHX36_ENST00000308361.6_Silent_p.Q172Q|DHX36_ENST00000544526.1_Silent_p.Q172Q	p.Q172Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	596	-			172					B2RB00|Q70JU3|Q8IYE5|Q9P240	Silent	SNP	ENST00000496811.1	37	c.516A>G	CCDS3171.1																																																																																				0.308	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		28	46	0	0	0	1	0	28	46				
OR1E2	8388	broad.mit.edu	37	17	3336736	3336736	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:3336736C>T	ENST00000248384.1	-	1	399	c.400G>A	c.(400-402)Gcc>Acc	p.A134T		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	134					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						AAGCAGATGGCGGTGTAGTGC	0.547																																						ENST00000248384.1																			0				endometrium(3)|large_intestine(3)|lung(3)	9						c.(400-402)Gcc>Acc		olfactory receptor, family 1, subfamily E, member 2							94.0	77.0	83.0					17																	3336736		2203	4300	6503	SO:0001583	missense	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3336736C>T	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.400G>A	17.37:g.3336736C>T	ENSP00000248384:p.Ala134Thr						p.A134T	NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN			1	399	-			134					O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	c.400G>A	CCDS11026.1	.	.	.	.	.	.	.	.	.	.	-	10.80	1.451791	0.26074	.	.	ENSG00000127780	ENST00000248384	T	0.25912	1.77	.	.	.	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09069	0.0224	N	0.01751	-0.74	0.09310	N	1	.	.	.	.	.	.	T	0.26608	-1.0098	5	0.87932	D	0	.	.	.	.	.	134	P47887	OR1E2_HUMAN	T	134	ENSP00000248384:A134T	ENSP00000248384:A134T	A	-	1	0	OR1E2	3283486	0.221000	0.23642	0.944000	0.38274	0.504000	0.33889	-0.470000	0.06639	0.000000	0.14550	0.000000	0.15137	GCC		0.547	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			4	39	0	0	0	1	0	4	39				
EPHA5	2044	broad.mit.edu	37	4	66231755	66231755	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr4:66231755T>C	ENST00000273854.3	-	11	2545	c.1945A>G	c.(1945-1947)Act>Gct	p.T649A	EPHA5_ENST00000511294.1_Missense_Mutation_p.T650A|EPHA5_ENST00000354839.4_Missense_Mutation_p.T627A|EPHA5_ENST00000432638.2_Missense_Mutation_p.T486A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	649					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCAATGTAAGTTCTTACTCCT	0.353										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1945-1947)Act>Gct		EPH receptor A5							163.0	138.0	147.0					4																	66231755		2203	4299	6502	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66231755T>C	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1945A>G	4.37:g.66231755T>C	ENSP00000273854:p.Thr649Ala	TSP Lung(17;0.13)				EPHA5_ENST00000432638.2_Missense_Mutation_p.T486A|EPHA5_ENST00000354839.4_Missense_Mutation_p.T627A|EPHA5_ENST00000511294.1_Missense_Mutation_p.T650A	p.T649A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			11	2545	-			649					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1945A>G	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687268	0.88639	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.69	5.69	0.88448	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000016	T	0.38983	0.1061	M	0.75085	2.285	0.58432	D	0.999994	D;P;D;P	0.71674	0.997;0.936;0.998;0.929	D;P;D;P	0.87578	0.995;0.695;0.998;0.48	T	0.15607	-1.0431	10	0.54805	T	0.06	.	15.9483	0.79809	0.0:0.0:0.0:1.0	.	628;650;627;649	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	A	649;486;627;650	ENSP00000273854:T649A;ENSP00000389208:T486A;ENSP00000346899:T627A;ENSP00000427638:T650A	ENSP00000273854:T649A	T	-	1	0	EPHA5	65914350	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.293000	0.72731	2.168000	0.68352	0.455000	0.32223	ACT		0.353	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		9	73	0	0	0	1	0	9	73				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	47	0	0	0	1	0	3	47				
PPP2R1B	5519	broad.mit.edu	37	11	111613388	111613388	+	Splice_Site	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:111613388G>A	ENST00000527614.1	-	13	1621	c.1556C>T	c.(1555-1557)gCa>gTa	p.A519V	PPP2R1B_ENST00000341980.6_Splice_Site_p.A474V|PPP2R1B_ENST00000311129.5_Splice_Site_p.A519V|PPP2R1B_ENST00000427203.2_Splice_Site_p.A358V|PPP2R1B_ENST00000426998.2_Splice_Site_p.A455V|PPP2R1B_ENST00000393055.2_Splice_Site_p.A392V	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	519					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTCAGACAGTGCCTAGAAAAA	0.323																																						ENST00000527614.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.e13-1		protein phosphatase 2, regulatory subunit A, beta							62.0	55.0	57.0					11																	111613388		2201	4297	6498	SO:0001630	splice_region_variant	5519						protein binding	g.chr11:111613388G>A	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1555-1C>T	11.37:g.111613388G>A						PPP2R1B_ENST00000311129.5_Splice_Site_p.A519_splice|PPP2R1B_ENST00000427203.2_Splice_Site_p.A358_splice|PPP2R1B_ENST00000426998.2_Splice_Site_p.A455_splice|PPP2R1B_ENST00000341980.6_Splice_Site_p.A474_splice|PPP2R1B_ENST00000393055.2_Splice_Site_p.A392_splice	p.A519_splice	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	13	1621	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	519					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Splice_Site	SNP	ENST00000527614.1	37	c.1554_splice	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	G	2.854	-0.237632	0.05944	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.47	3.61	0.41365	Armadillo-like helical (1);Armadillo-type fold (1);	0.100848	0.64402	N	0.000002	T	0.09949	0.0244	N	0.02111	-0.68	0.47374	D	0.999405	B;B;B;B;B;B	0.11235	0.004;0.0;0.001;0.0;0.0;0.001	B;B;B;B;B;B	0.12837	0.006;0.002;0.008;0.001;0.001;0.002	T	0.11842	-1.0571	10	0.08837	T	0.75	-3.457	7.6562	0.28377	0.2577:0.0:0.7423:0.0	.	392;474;358;455;519;519	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	V	519;392;455;519;358;474;392	ENSP00000311344:A519V;ENSP00000410671:A455V;ENSP00000437193:A519V;ENSP00000415759:A358V;ENSP00000343317:A474V;ENSP00000376775:A392V	ENSP00000311344:A519V	A	-	2	0	PPP2R1B	111118598	1.000000	0.71417	0.941000	0.38009	0.234000	0.25298	2.989000	0.49393	0.693000	0.31634	0.555000	0.69702	GCA		0.323	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716	Missense_Mutation	13	31	0	0	0	1	0	13	31				
OSBPL1A	114876	broad.mit.edu	37	18	21758022	21758022	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr18:21758022C>A	ENST00000319481.3	-	21	2254	c.2048G>T	c.(2047-2049)aGt>aTt	p.S683I	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.S170I|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S301I	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	683					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TGCTTCTACACTCTTCCCCCA	0.438																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2047-2049)aGt>aTt		oxysterol binding protein-like 1A							144.0	126.0	132.0					18																	21758022		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21758022C>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2048G>T	18.37:g.21758022C>A	ENSP00000320291:p.Ser683Ile					OSBPL1A_ENST00000399443.3_Missense_Mutation_p.S170I|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S301I	p.S683I	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			21	2254	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		683					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.2048G>T	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954682	0.92726	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.38722	1.12;1.12;1.12	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.77644	0.4161	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84405	0.0562	10	0.87932	D	0	-23.7509	19.9857	0.97347	0.0:1.0:0.0:0.0	.	683	Q9BXW6	OSBL1_HUMAN	I	683;170;301	ENSP00000320291:S683I;ENSP00000382372:S170I;ENSP00000349545:S301I	ENSP00000320291:S683I	S	-	2	0	OSBPL1A	20012020	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	4.959000	0.63666	2.724000	0.93272	0.655000	0.94253	AGT		0.438	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		7	78	1	0	0.00448238	1	0.00454464	7	78				
KIAA0101	9768	broad.mit.edu	37	15	64673229	64673229	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr15:64673229C>T	ENST00000300035.4	-	2	193	c.55G>A	c.(55-57)Gct>Act	p.A19T	KIAA0101_ENST00000558250.1_5'Flank|KIAA0101_ENST00000558008.1_Missense_Mutation_p.A19T|KIAA0101_ENST00000559519.1_Intron|KIAA0101_ENST00000380258.2_Missense_Mutation_p.A19T	NM_014736.4	NP_055551.1	Q15004	PAF15_HUMAN	KIAA0101	19					cellular response to DNA damage stimulus (GO:0006974)|centrosome organization (GO:0051297)|DNA replication (GO:0006260)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin binding (GO:0003682)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GGGGCTCGAGCAGCCACCACT	0.557																																						ENST00000300035.4																			0				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(55-57)Gct>Act		KIAA0101							42.0	42.0	42.0					15																	64673229		2203	4300	6503	SO:0001583	missense	9768					mitochondrion|nucleus		g.chr15:64673229C>T	D14657	CCDS10193.1, CCDS32269.1	15q22	2006-06-22			ENSG00000166803	ENSG00000166803			28961	protein-coding gene	gene with protein product		610696				11313979, 16288740	Standard	NM_001029989		Approved	NS5ATP9, OEATC-1, p15(PAF)	uc002ank.3	Q15004	OTTHUMG00000133017	ENST00000300035.4:c.55G>A	15.37:g.64673229C>T	ENSP00000300035:p.Ala19Thr					KIAA0101_ENST00000560234.1_Silent_p.L19L|KIAA0101_ENST00000559519.1_Intron|KIAA0101_ENST00000380258.2_Missense_Mutation_p.A19T|KIAA0101_ENST00000558008.1_Missense_Mutation_p.A19T	p.A19T	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN			2	193	-			19					A6NNU5|A8K3Y3|G9G694|G9G696	Missense_Mutation	SNP	ENST00000300035.4	37	c.55G>A	CCDS10193.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142846	0.37825	.	.	ENSG00000166803	ENST00000300035;ENST00000380258	T	0.55588	0.51	5.23	1.15	0.20763	.	0.241522	0.40302	N	0.001130	T	0.45054	0.1323	L	0.47190	1.495	0.80722	D	1	B;B	0.18741	0.03;0.008	B;B	0.21917	0.037;0.034	T	0.47586	-0.9106	10	0.72032	D	0.01	-19.7987	12.2182	0.54418	0.3611:0.6389:0.0:0.0	.	19;19	A6NNU5;Q15004	.;PAF_HUMAN	T	19	ENSP00000300035:A19T	ENSP00000300035:A19T	A	-	1	0	KIAA0101	62460282	0.976000	0.34144	0.993000	0.49108	0.657000	0.38888	0.770000	0.26618	0.386000	0.24997	-0.397000	0.06425	GCT		0.557	KIAA0101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256603.1	NM_014736		3	30	0	0	0	1	0	3	30				
SIGLEC5	8778	broad.mit.edu	37	19	52130861	52130861	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:52130861C>T	ENST00000534261.2	-	7	1535	c.1136G>A	c.(1135-1137)gGc>gAc	p.G379D	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G379D|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.G379D|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G379D|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G379D			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	379					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGAATGAGCCCTGGCTGCT	0.662																																						ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1135-1137)gGc>gAc		sialic acid binding Ig-like lectin 5							37.0	36.0	37.0					19																	52130861		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52130861C>T	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1136G>A	19.37:g.52130861C>T	ENSP00000473238:p.Gly379Asp					SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G379D|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G379D|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G379D|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.G379D	p.G379D			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	6	1274	-		all_neural(266;0.0726)	379						Missense_Mutation	SNP	ENST00000534261.2	37	c.1136G>A	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	C	4.350	0.064343	0.08388	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	D;D	0.85861	-2.04;-2.04	4.05	-1.39	0.08997	.	.	.	.	.	T	0.67562	0.2906	N	0.11313	0.125	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.53521	-0.8427	9	0.30078	T	0.28	.	7.0076	0.24846	0.0:0.1933:0.5152:0.2914	.	379	O15389	SIGL5_HUMAN	D	379	ENSP00000222107:G379D;ENSP00000415200:G379D	ENSP00000222107:G379D	G	-	2	0	SIGLEC5	56822673	0.001000	0.12720	0.016000	0.15963	0.103000	0.19146	-0.083000	0.11286	0.061000	0.16311	-0.275000	0.10095	GGC		0.662	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		14	6	0	0	0	1	0	14	6				
NLGN3	54413	broad.mit.edu	37	X	70386886	70386886	+	Silent	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:70386886A>G	ENST00000358741.3	+	7	1242	c.939A>G	c.(937-939)caA>caG	p.Q313Q	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Silent_p.Q293Q|NLGN3_ENST00000536169.1_Silent_p.Q273Q	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	313					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCATCATCCAAAGTGGCTCTG	0.512																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(877-879)caA>caG		neuroligin 3							49.0	40.0	43.0					X																	70386886		2201	4299	6500	SO:0001819	synonymous_variant	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70386886A>G	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.939A>G	X.37:g.70386886A>G						NLGN3_ENST00000358741.3_Silent_p.Q313Q|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.Q273Q	p.Q293Q	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			6	1201	+	Renal(35;0.156)		313					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	ENST00000358741.3	37	c.879A>G	CCDS55441.1																																																																																				0.512	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		6	11	0	0	0	1	0	6	11				
LIG3	3980	broad.mit.edu	37	17	33319550	33319550	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:33319550G>A	ENST00000378526.4	+	8	1427	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	LIG3_ENST00000262327.5_Missense_Mutation_p.A432T	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	432					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CAGGTTAGACGCCCTTGACCC	0.542								Other BER factors																														ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(1294-1296)Gcc>Acc	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)						134.0	123.0	127.0					17																	33319550		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33319550G>A		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1294G>A	17.37:g.33319550G>A	ENSP00000367787:p.Ala432Thr					LIG3_ENST00000262327.5_Missense_Mutation_p.A432T	p.A432T	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN			8	1427	+		Ovarian(249;0.17)	432					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.1294G>A	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	G	35	5.501187	0.96371	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.50001	0.76;0.76	5.4	5.4	0.78164	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.72260	0.3438	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.99	T	0.75235	-0.3389	10	0.66056	D	0.02	-16.9273	18.3525	0.90343	0.0:0.0:1.0:0.0	.	432;432;432	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	T	432	ENSP00000367787:A432T;ENSP00000262327:A432T	ENSP00000262327:A432T	A	+	1	0	LIG3	30343663	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.419000	0.97397	2.814000	0.96858	0.655000	0.94253	GCC		0.542	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		41	58	0	0	0	1	0	41	58				
RBMS1	5937	broad.mit.edu	37	2	161135075	161135075	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:161135075A>G	ENST00000348849.3	-	11	1476	c.1046T>C	c.(1045-1047)cTa>cCa	p.L349P	RBMS1_ENST00000409972.1_Missense_Mutation_p.L313P|RBMS1_ENST00000409289.2_Missense_Mutation_p.L313P|RBMS1_ENST00000392753.3_Missense_Mutation_p.L362P|RBMS1_ENST00000409075.1_Missense_Mutation_p.L313P|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	349					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								GGTGCTGCCTAGTGACAGATG	0.498											OREG0015036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000348849.3																		PLA2R1/RBMS1(2)	0											c.(1045-1047)cTa>cCa		RNA binding motif, single stranded interacting protein 1							100.0	86.0	91.0					2																	161135075		2203	4300	6503	SO:0001583	missense	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161135075A>G	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.1046T>C	2.37:g.161135075A>G	ENSP00000294904:p.Leu349Pro		OREG0015036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814	RBMS1_ENST00000409289.2_Missense_Mutation_p.L313P|RBMS1_ENST00000409075.1_Missense_Mutation_p.L313P|RBMS1_ENST00000392753.3_Missense_Mutation_p.L362P|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.L313P	p.L349P	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN			11	1476	-			349					Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	c.1046T>C	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676451	0.67928	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.31247	1.56;1.85;1.85;1.5;1.85	5.84	5.84	0.93424	.	0.062950	0.64402	D	0.000004	T	0.58047	0.2095	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.99;0.999;0.998;1.0	D;D;P;D;D;D	0.75484	0.986;0.977;0.885;0.968;0.954;0.982	T	0.62124	-0.6920	10	0.66056	D	0.02	.	16.2159	0.82217	1.0:0.0:0.0:0.0	.	228;349;346;231;313;362	Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	P	349;313;313;362;313	ENSP00000294904:L349P;ENSP00000386347:L313P;ENSP00000386571:L313P;ENSP00000376508:L362P;ENSP00000387280:L313P	ENSP00000294904:L349P	L	-	2	0	RBMS1	160843321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.079000	0.94032	2.243000	0.73865	0.533000	0.62120	CTA		0.498	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		7	22	0	0	0	1	0	7	22				
ARG2	384	broad.mit.edu	37	14	68112389	68112389	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr14:68112389C>T	ENST00000261783.3	+	4	572	c.392C>T	c.(391-393)gCc>gTc	p.A131V	ARG2_ENST00000556491.1_Intron	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	131					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	AGTGGCCATGCCCGACACTGC	0.507																																						ENST00000261783.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11						c.(391-393)gCc>gTc		arginase 2	L-Arginine(DB00125)|L-Ornithine(DB00129)						81.0	64.0	70.0					14																	68112389		2203	4300	6503	SO:0001583	missense	384				arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	g.chr14:68112389C>T	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.392C>T	14.37:g.68112389C>T	ENSP00000261783:p.Ala131Val					ARG2_ENST00000556491.1_Intron	p.A131V	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN		all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	4	572	+			131					B2R690|Q6FHY8	Missense_Mutation	SNP	ENST00000261783.3	37	c.392C>T	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476810	0.63849	.	.	ENSG00000081181	ENST00000261783	D	0.86432	-2.12	5.08	4.12	0.48240	Ureohydrolase domain (1);	0.206695	0.50627	D	0.000113	D	0.89473	0.6725	M	0.89658	3.05	0.58432	D	0.999992	B	0.20459	0.045	B	0.25614	0.062	D	0.89087	0.3480	10	0.66056	D	0.02	.	14.1171	0.65161	0.0:0.9167:0.0:0.0833	.	131	P78540	ARGI2_HUMAN	V	131	ENSP00000261783:A131V	ENSP00000261783:A131V	A	+	2	0	ARG2	67182142	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	4.595000	0.61048	2.646000	0.89796	0.555000	0.69702	GCC		0.507	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172		3	39	0	0	0	1	0	3	39				
GRIK2	2898	broad.mit.edu	37	6	102074501	102074501	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr6:102074501A>T	ENST00000421544.1	+	3	1020	c.530A>T	c.(529-531)gAt>gTt	p.D177V	GRIK2_ENST00000369134.4_Missense_Mutation_p.D128V|GRIK2_ENST00000318991.6_Missense_Mutation_p.D177V|GRIK2_ENST00000413795.1_Missense_Mutation_p.D177V|GRIK2_ENST00000369137.3_Missense_Mutation_p.D177V|GRIK2_ENST00000358361.3_Missense_Mutation_p.D177V|GRIK2_ENST00000369138.1_Missense_Mutation_p.D177V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	177					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTTGTGTATGATGACAGCACT	0.398																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(529-531)gAt>gTt		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						65.0	69.0	67.0					6																	102074501		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102074501A>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.530A>T	6.37:g.102074501A>T	ENSP00000397026:p.Asp177Val					GRIK2_ENST00000421544.1_Missense_Mutation_p.D177V|GRIK2_ENST00000413795.1_Missense_Mutation_p.D177V|GRIK2_ENST00000358361.3_Missense_Mutation_p.D177V|GRIK2_ENST00000369134.4_Missense_Mutation_p.D128V|GRIK2_ENST00000318991.6_Missense_Mutation_p.D177V|GRIK2_ENST00000369137.3_Missense_Mutation_p.D177V	p.D177V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	3	1020	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	177					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.530A>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295410	0.81025	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	5.79	5.79	0.91817	Extracellular ligand-binding receptor (1);	0.053171	0.64402	D	0.000001	D	0.91334	0.7267	M	0.80332	2.49	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.996	D;D;D	0.76071	0.978;0.987;0.969	D	0.92670	0.6149	10	0.87932	D	0	.	16.1199	0.81342	1.0:0.0:0.0:0.0	.	177;177;177	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	177;177;177;177;177;177;177;128;139	ENSP00000397026:D177V;ENSP00000405596:D177V;ENSP00000358134:D177V;ENSP00000351128:D177V;ENSP00000358133:D177V;ENSP00000313276:D177V;ENSP00000358130:D128V	ENSP00000313276:D177V	D	+	2	0	GRIK2	102181194	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.962000	0.93254	2.194000	0.70268	0.533000	0.62120	GAT		0.398	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			25	38	0	0	0	1	0	25	38				
AHRR	57491	broad.mit.edu	37	5	353938	353938	+	Silent	SNP	G	G	A	rs150312721	byFrequency	TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr5:353938G>A	ENST00000505113.1	+	3	212	c.168G>A	c.(166-168)ccG>ccA	p.P56P	AHRR_ENST00000515206.1_Silent_p.P52P|AHRR_ENST00000316418.5_Silent_p.P56P|AHRR_ENST00000512529.1_Intron	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	56	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCTGCTGCCGTTCCCGCCTG	0.627													G|||	5	0.000998403	0.0	0.0014	5008	,	,		19204	0.0		0.004	False		,,,				2504	0.0					ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(166-168)ccG>ccA		aryl-hydrocarbon receptor repressor		G	,	7,4259		0,7,2126	92.0	106.0	101.0		168,168	-10.1	0.0	5	dbSNP_134	101	13,8457		0,13,4222	no	coding-synonymous,coding-synonymous	AHRR	NM_001242412.1,NM_020731.4	,	0,20,6348	AA,AG,GG		0.1535,0.1641,0.157	,	56/702,56/720	353938	20,12716	2133	4235	6368	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:353938G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.168G>A	5.37:g.353938G>A						AHRR_ENST00000505113.1_Silent_p.P56P|AHRR_ENST00000515206.1_Silent_p.P52P|AHRR_ENST00000512529.1_Intron	p.P56P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		3	212	+			56			Helix-loop-helix motif.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.168G>A	CCDS56355.1																																																																																				0.627	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		18	30	0	0	0	1	0	18	30				
GPC4	2239	broad.mit.edu	37	X	132436968	132436968	+	Missense_Mutation	SNP	C	C	G	rs148166792		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:132436968C>G	ENST00000370828.3	-	9	2122	c.1598G>C	c.(1597-1599)cGt>cCt	p.R533P	GPC4_ENST00000535467.1_Missense_Mutation_p.R463P	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	533					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TGCCCCAGGACGGACACCAGC	0.502																																						ENST00000370828.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1597-1599)cGt>cCt		glypican 4							219.0	185.0	196.0					X																	132436968		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132436968C>G	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1598G>C	X.37:g.132436968C>G	ENSP00000359864:p.Arg533Pro					GPC4_ENST00000535467.1_Missense_Mutation_p.R463P	p.R533P	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN			9	2122	-	Acute lymphoblastic leukemia(192;0.000127)		533					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.1598G>C	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	c	1.862	-0.462444	0.04508	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.50001	0.76;0.76	5.63	-2.92	0.05615	.	1.873730	0.02103	N	0.054144	T	0.24890	0.0604	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03403	-1.1040	10	0.23891	T	0.37	-9.2042	1.0624	0.01604	0.2017:0.1947:0.3422:0.2615	.	533	O75487	GPC4_HUMAN	P	533;527;463	ENSP00000359864:R533P;ENSP00000444959:R463P	ENSP00000359864:R533P	R	-	2	0	GPC4	132264634	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.491000	0.06474	-1.395000	0.02074	0.597000	0.82753	CGT		0.502	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		102	121	0	0	0	1	0	102	121				
TMTC2	160335	broad.mit.edu	37	12	83251282	83251282	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:83251282C>T	ENST00000321196.3	+	2	1284	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	TMTC2_ENST00000548305.1_Missense_Mutation_p.L193F|TMTC2_ENST00000549919.1_Missense_Mutation_p.L187F	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	193					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGTGACTGTTCTCGCAGTTTC	0.458																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(559-561)Ctc>Ttc		transmembrane and tetratricopeptide repeat containing 2							123.0	102.0	109.0					12																	83251282		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83251282C>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.577C>T	12.37:g.83251282C>T	ENSP00000322300:p.Leu193Phe					TMTC2_ENST00000321196.3_Missense_Mutation_p.L193F|TMTC2_ENST00000548305.1_Missense_Mutation_p.L193F	p.L187F			Q8N394	TMTC2_HUMAN			3	2364	+			193					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.559C>T	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911395	0.72983	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.65549	0.5;-0.16;0.39	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	T	0.76385	0.3980	M	0.67700	2.07	0.80722	D	1	D;P	0.54964	0.969;0.845	D;P	0.64237	0.923;0.755	T	0.73126	-0.4081	10	0.35671	T	0.21	-11.5064	18.1624	0.89712	0.0:1.0:0.0:0.0	.	193;193	Q8N394;F8VSH2	TMTC2_HUMAN;.	F	193;193;187	ENSP00000322300:L193F;ENSP00000448292:L193F;ENSP00000447609:L187F	ENSP00000322300:L193F	L	+	1	0	TMTC2	81775413	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	2.048000	0.41278	2.788000	0.95919	0.650000	0.86243	CTC		0.458	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		32	43	0	0	0	1	0	32	43				
KCNJ5	3762	broad.mit.edu	37	11	128781260	128781260	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:128781260A>G	ENST00000338350.4	+	3	444	c.92A>G	c.(91-93)gAt>gGt	p.D31G	KCNJ5_ENST00000529694.1_Missense_Mutation_p.D31G|KCNJ5_ENST00000533599.1_Missense_Mutation_p.D31G			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	31					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CAGGCCCGCGATTATGTCCCC	0.577																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(91-93)gAt>gGt		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						82.0	83.0	82.0					11																	128781260		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781260A>G	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.92A>G	11.37:g.128781260A>G	ENSP00000339960:p.Asp31Gly					KCNJ5_ENST00000338350.4_Missense_Mutation_p.D31G|KCNJ5_ENST00000533599.1_Missense_Mutation_p.D31G	p.D31G	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	468	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	31					B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.92A>G	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.284629	0.40394	.	.	ENSG00000120457	ENST00000533356;ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.89939	-2.59;-2.59;-2.59	5.79	5.79	0.91817	.	.	.	.	.	D	0.84633	0.5515	L	0.33485	1.01	0.43471	D	0.995684	B	0.12013	0.005	B	0.15052	0.012	T	0.80569	-0.1324	9	0.56958	D	0.05	.	16.1388	0.81509	1.0:0.0:0.0:0.0	.	31	P48544	IRK5_HUMAN	G	31	ENSP00000433295:D31G;ENSP00000339960:D31G;ENSP00000434266:D31G	ENSP00000339960:D31G	D	+	2	0	KCNJ5	128286470	1.000000	0.71417	0.120000	0.21714	0.462000	0.32619	4.102000	0.57776	2.205000	0.71048	0.528000	0.53228	GAT		0.577	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		12	81	0	0	0	1	0	12	81				
C2orf16	84226	broad.mit.edu	37	2	27799757	27799757	+	Silent	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:27799757G>A	ENST00000408964.2	+	1	369	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	106						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATATGGGGAGCAAACTCCAA	0.413																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(316-318)gaG>gaA		chromosome 2 open reading frame 16							58.0	54.0	55.0					2																	27799757		1861	4104	5965	SO:0001819	synonymous_variant	84226							g.chr2:27799757G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.318G>A	2.37:g.27799757G>A							p.E106E	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	369	+	Acute lymphoblastic leukemia(172;0.155)		106					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.318G>A	CCDS42666.1																																																																																				0.413	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		31	27	0	0	0	1	0	31	27				
NRGN	4900	broad.mit.edu	37	11	124615509	124615509	+	Silent	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:124615509G>A	ENST00000284292.6	+	2	365	c.126G>A	c.(124-126)gcG>gcA	p.A42A	NRGN_ENST00000412681.2_Silent_p.A42A|RP11-677M14.2_ENST00000531241.1_RNA	NM_001126181.1|NM_006176.2	NP_001119653.1|NP_006167.1	Q92686	NEUG_HUMAN	neurogranin (protein kinase C substrate, RC3)	42	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				nervous system development (GO:0007399)|signal transduction (GO:0007165)		calmodulin binding (GO:0005516)					all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GCCACATGGCGCGGAAGAAGA	0.726																																						ENST00000526916.2																			0											c.(124-126)gcG>gcA		neurogranin (protein kinase C substrate, RC3)							14.0	15.0	15.0					11																	124615509		2194	4284	6478	SO:0001819	synonymous_variant	4900				nervous system development|signal transduction		calmodulin binding	g.chr11:124615509G>A	X99075, X99076	CCDS8451.1	11q24	2008-02-01			ENSG00000154146	ENSG00000154146			8000	protein-coding gene	gene with protein product		602350				9143500	Standard	NM_006176		Approved	RC3	uc001qar.2	Q92686	OTTHUMG00000165928	ENST00000284292.6:c.126G>A	11.37:g.124615509G>A						NRGN_ENST00000284292.5_Silent_p.A42A|RP11-677M14.2_ENST00000531241.1_RNA|NRGN_ENST00000412681.1_Silent_p.A42A	p.A42A			Q92686	NEUG_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	2	266	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	42			IQ.			Silent	SNP	ENST00000284292.6	37	c.126G>A	CCDS8451.1																																																																																				0.726	NRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387079.3	NM_006176		10	18	0	0	0	1	0	10	18				
SLCO1B3	28234	broad.mit.edu	37	12	21033840	21033840	+	Silent	SNP	A	A	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:21033840A>C	ENST00000381545.3	+	12	1602	c.1383A>C	c.(1381-1383)tcA>tcC	p.S461S	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.S461S|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.S461S|LST3_ENST00000540229.1_Silent_p.S461S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	461	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ATTGCAACTCAGAGTGCAATT	0.373																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(1381-1383)tcA>tcC		solute carrier organic anion transporter family, member 1B3							168.0	162.0	164.0					12																	21033840		2203	4300	6503	SO:0001819	synonymous_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21033840A>C		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1383A>C	12.37:g.21033840A>C						LST3_ENST00000540229.1_Silent_p.S461S|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.S461S|SLCO1B3_ENST00000261196.2_Silent_p.S461S	p.S461S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			12	1602	+	Esophageal squamous(101;0.149)		461			Kazal-like.		E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	c.1383A>C	CCDS8684.1																																																																																				0.373	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		13	130	0	0	0	1	0	13	130				
TMEM185A	84548	broad.mit.edu	37	X	148690457	148690457	+	Silent	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:148690457A>G	ENST00000316916.8	-	3	584	c.280T>C	c.(280-282)Ttg>Ctg	p.L94L	TMEM185A_ENST00000536359.1_Silent_p.L35L|TMEM185A_ENST00000507237.1_Silent_p.L94L	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	94						dendrite (GO:0030425)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AACATCAACAAGAGCAAGTGG	0.468																																						ENST00000316916.8																			0				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15						c.(280-282)Ttg>Ctg		transmembrane protein 185A							170.0	150.0	157.0					X																	148690457		2202	4299	6501	SO:0001819	synonymous_variant	84548					integral to membrane		g.chrX:148690457A>G	AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"""chromosome X open reading frame 13"", ""family with sequence similarity 11, member A"""	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.280T>C	X.37:g.148690457A>G						TMEM185A_ENST00000507237.1_Silent_p.L94L|TMEM185A_ENST00000536359.1_Silent_p.L35L	p.L94L	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN			3	584	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		94					B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Silent	SNP	ENST00000316916.8	37	c.280T>C	CCDS14689.1																																																																																				0.468	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058710.4	NM_032508		35	107	0	0	0	1	0	35	107				
PTPRM	5797	broad.mit.edu	37	18	8244057	8244057	+	Splice_Site	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr18:8244057A>G	ENST00000332175.8	+	15	3339	c.2302A>G	c.(2302-2304)Aaa>Gaa	p.K768E	PTPRM_ENST00000400053.4_Splice_Site_p.K706E|PTPRM_ENST00000444013.1_Splice_Site_p.K555E|PTPRM_ENST00000400060.4_Splice_Site_p.K768E|PTPRM_ENST00000580170.1_Splice_Site_p.K768E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	768					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TATCCTAAGGAAACTGGCCAA	0.438																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.e15-1		protein tyrosine phosphatase, receptor type, M							90.0	92.0	91.0					18																	8244057		2203	4300	6503	SO:0001630	splice_region_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8244057A>G	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2301-1A>G	18.37:g.8244057A>G						PTPRM_ENST00000400053.4_Splice_Site_p.K706_splice|PTPRM_ENST00000444013.1_Splice_Site_p.K555_splice|PTPRM_ENST00000580170.1_Splice_Site_p.K768_splice|PTPRM_ENST00000400060.4_Splice_Site_p.K768_splice	p.K768_splice	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			15	3339	+		Colorectal(10;0.234)	768					A7MBN1|D3DUH8|J3QL11	Splice_Site	SNP	ENST00000332175.8	37	c.2300_splice	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	34	5.391637	0.95988	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.50548	1.04;1.06;0.9;0.74	5.82	5.82	0.92795	.	0.094831	0.64402	D	0.000001	T	0.66607	0.2806	M	0.66297	2.02	0.80722	D	1	D;D;D	0.63880	0.977;0.993;0.993	D;D;D	0.70935	0.915;0.971;0.971	T	0.66118	-0.6003	10	0.42905	T	0.14	.	16.1986	0.82053	1.0:0.0:0.0:0.0	.	555;768;768	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	E	768;768;706;555	ENSP00000331418:K768E;ENSP00000382933:K768E;ENSP00000382927:K706E;ENSP00000387608:K555E	ENSP00000331418:K768E	K	+	1	0	PTPRM	8234057	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.339000	0.96797	2.227000	0.72691	0.455000	0.32223	AAA		0.438	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		Missense_Mutation	21	34	0	0	0	1	0	21	34				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			22	38	0	0	0	1	0	22	38				
OR4M1	441670	broad.mit.edu	37	14	20248553	20248553	+	Silent	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr14:20248553A>G	ENST00000315957.4	+	1	153	c.72A>G	c.(70-72)caA>caG	p.Q24Q		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGGAGGTCCAACTAGTCCTAT	0.383																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(70-72)caA>caG		olfactory receptor, family 4, subfamily M, member 1							174.0	187.0	182.0					14																	20248553		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248553A>G		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.72A>G	14.37:g.20248553A>G							p.Q24Q	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	153	+	all_cancers(95;0.00108)		24					B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.72A>G	CCDS32021.1																																																																																				0.383	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			25	200	0	0	0	1	0	25	200				
MMP10	4319	broad.mit.edu	37	11	102651240	102651240	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:102651240T>C	ENST00000279441.4	-	1	119	c.83A>G	c.(82-84)gAc>gGc	p.D28G		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	28					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	CTTGTTGGAGTCCTCCTCTTT	0.488																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(82-84)gAc>gGc		matrix metallopeptidase 10 (stromelysin 2)							207.0	170.0	182.0					11																	102651240		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102651240T>C	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.83A>G	11.37:g.102651240T>C	ENSP00000279441:p.Asp28Gly						p.D28G	NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	1	119	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	28					B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.83A>G	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	t	8.321	0.824226	0.16678	.	.	ENSG00000166670	ENST00000279441;ENST00000539681	T;T	0.37058	1.22;1.22	3.33	0.915	0.19366	Metallopeptidase, catalytic domain (1);	1.156580	0.06453	N	0.728100	T	0.18841	0.0452	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.24764	-1.0151	10	0.35671	T	0.21	.	5.4406	0.16507	0.0:0.0949:0.1752:0.7299	.	28	P09238	MMP10_HUMAN	G	28	ENSP00000279441:D28G;ENSP00000441485:D28G	ENSP00000279441:D28G	D	-	2	0	MMP10	102156450	0.002000	0.14202	0.002000	0.10522	0.007000	0.05969	0.361000	0.20267	0.177000	0.19895	-0.684000	0.03749	GAC		0.488	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			7	31	0	0	0	1	0	7	31				
TSPYL6	388951	broad.mit.edu	37	2	54482297	54482297	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:54482297C>T	ENST00000317802.7	-	1	1112	c.992G>A	c.(991-993)cGc>cAc	p.R331H	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	331					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						ATGGCCCCGGCGCCACATGAT	0.493																																						ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(991-993)cGc>cAc		TSPY-like 6							72.0	75.0	74.0					2																	54482297		2101	4250	6351	SO:0001583	missense	388951				nucleosome assembly	nucleus		g.chr2:54482297C>T	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.992G>A	2.37:g.54482297C>T	ENSP00000417919:p.Arg331His					ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron	p.R331H	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	1112	-			331					Q6NUJ3	Missense_Mutation	SNP	ENST00000317802.7	37	c.992G>A	CCDS42682.1	.	.	.	.	.	.	.	.	.	.	C	0.963	-0.702617	0.03255	.	.	ENSG00000178021	ENST00000317802	T	0.25579	1.79	1.67	-1.54	0.08584	.	.	.	.	.	T	0.07098	0.0180	N	0.02736	-0.51	0.09310	N	1	B	0.29862	0.259	B	0.26517	0.07	T	0.32561	-0.9902	9	0.11182	T	0.66	.	2.5092	0.04652	0.2519:0.4308:0.0:0.3172	.	331	Q8N831	TSYL6_HUMAN	H	331	ENSP00000417919:R331H	ENSP00000417919:R331H	R	-	2	0	TSPYL6	54335801	0.024000	0.19004	0.004000	0.12327	0.033000	0.12548	0.068000	0.14531	-0.381000	0.07882	0.467000	0.42956	CGC		0.493	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		24	34	0	0	0	1	0	24	34				
RGS3	5998	broad.mit.edu	37	9	116357880	116357880	+	Splice_Site	SNP	C	C	T	rs199654322		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr9:116357880C>T	ENST00000374140.2	+	25	3455	c.3246C>T	c.(3244-3246)taC>taT	p.Y1082Y	RGS3_ENST00000462143.1_Splice_Site_p.Y403Y|RGS3_ENST00000462403.1_Splice_Site_p.Y195Y|RGS3_ENST00000374134.3_Splice_Site_p.Y403Y|RGS3_ENST00000394646.3_Splice_Site_p.Y475Y|RGS3_ENST00000350696.5_Splice_Site_p.Y1082Y|RGS3_ENST00000342620.5_Splice_Site_p.Y52Y|RGS3_ENST00000343817.5_Splice_Site_p.Y801Y	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1082	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCTCACAGACGGGTTAGCAG	0.522																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e25-1		regulator of G-protein signaling 3							151.0	125.0	133.0					9																	116357880		2203	4300	6503	SO:0001630	splice_region_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116357880C>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3245-1C>T	9.37:g.116357880C>T						RGS3_ENST00000374134.3_Splice_Site_p.Y403_splice|RGS3_ENST00000462403.1_Splice_Site_p.Y195_splice|RGS3_ENST00000350696.5_Splice_Site_p.Y1082_splice|RGS3_ENST00000394646.3_Splice_Site_p.Y475_splice|RGS3_ENST00000343817.5_Splice_Site_p.Y801_splice|RGS3_ENST00000342620.5_Splice_Site_p.Y52_splice|RGS3_ENST00000462143.1_Splice_Site_p.Y403_splice	p.Y1082_splice	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			25	3455	+			1082			RGS.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Splice_Site	SNP	ENST00000374140.2	37	c.3244_splice	CCDS43869.1																																																																																				0.522	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	Silent	3	69	0	0	0	1	0	3	69				
KIAA0907	22889	broad.mit.edu	37	1	155899562	155899562	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr1:155899562T>C	ENST00000368321.3	-	3	348	c.325A>G	c.(325-327)Att>Gtt	p.I109V	KIAA0907_ENST00000368320.3_Missense_Mutation_p.I109V|KIAA0907_ENST00000368319.3_Missense_Mutation_p.I109V|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	109							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACATCATTAATTTCTACTTCA	0.458																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(325-327)Att>Gtt		KIAA0907							158.0	142.0	148.0					1																	155899562		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155899562T>C	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.325A>G	1.37:g.155899562T>C	ENSP00000357304:p.Ile109Val					KIAA0907_ENST00000368319.3_Missense_Mutation_p.I109V|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.I109V	p.I109V			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		3	350	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		109					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.325A>G	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192014	0.78902	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	L	0.54863	1.705	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	0.99;1.0;0.99;0.999;0.978;0.978	D;D;D;D;D;D	0.85130	0.991;0.997;0.978;0.994;0.968;0.968	T	0.71213	-0.4659	9	0.51188	T	0.08	-8.7655	15.1035	0.72303	0.0:0.0:0.0:1.0	.	109;109;109;109;109;109	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	V	109	.	ENSP00000357302:I109V	I	-	1	0	KIAA0907	154166186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	2.234000	0.73211	0.460000	0.39030	ATT		0.458	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		3	55	0	0	0	1	0	3	55				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				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)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			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			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				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.chr22:29091840T>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.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			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.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	65	0	0	0	1	0	3	65				
TP53	7157	broad.mit.edu	37	17	7577118	7577118	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:7577118C>A	ENST00000269305.4	-	8	1009	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	TP53_ENST00000359597.4_Missense_Mutation_p.V274F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V274F|TP53_ENST00000445888.2_Missense_Mutation_p.V274F|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.V274F	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	274	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGCACAAACACGCACCTCA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		54	Substitution - Missense(36)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Unknown(2)	p.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(1)	large_intestine(9)|breast(7)|upper_aerodigestive_tract(6)|ovary(4)|prostate(4)|bone(4)|central_nervous_system(3)|urinary_tract(3)|lung(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|adrenal_gland(1)|stomach(1)|soft_tissue(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(820-822)Gtt>Ttt	Other conserved DNA damage response genes	tumor protein p53							69.0	60.0	63.0					17																	7577118		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.chr17:7577118C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.820G>T	17.37:g.7577118C>A	ENSP00000269305:p.Val274Phe	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_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.V274F|TP53_ENST00000445888.2_Missense_Mutation_p.V274F|TP53_ENST00000455263.2_Missense_Mutation_p.V274F|TP53_ENST00000359597.4_Missense_Mutation_p.V274F	p.V274F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	952	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	274		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.820G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201113	0.38905	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99832	-7.02;-7.02;-7.02;-7.02;-7.02;-7.02	4.92	-0.763	0.11030	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.312804	0.33382	N	0.004980	D	0.99670	0.9877	M	0.87456	2.885	0.38916	D	0.957632	B;D;B;B	0.56746	0.434;0.977;0.209;0.125	B;P;P;B	0.61477	0.373;0.889;0.561;0.389	D	0.99218	1.0878	10	0.87932	D	0	-10.2267	9.2232	0.37390	0.0:0.5803:0.0:0.4197	.	274;274;274;274	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	274;274;274;274;274;263;142	ENSP00000352610:V274F;ENSP00000269305:V274F;ENSP00000398846:V274F;ENSP00000391127:V274F;ENSP00000391478:V274F;ENSP00000425104:V142F	ENSP00000269305:V274F	V	-	1	0	TP53	7517843	0.002000	0.14202	0.148000	0.22405	0.724000	0.41520	-0.002000	0.12924	-0.004000	0.14419	0.462000	0.41574	GTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	1	1	0	6.44725e-10	1	6.62886e-10	24	1				
MYH2	4620	broad.mit.edu	37	17	10426662	10426662	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:10426662C>T	ENST00000245503.5	-	38	5924	c.5540G>A	c.(5539-5541)cGc>cAc	p.R1847H	MYH2_ENST00000397183.2_Missense_Mutation_p.R1847H|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1847					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCATGTTTGCGCAGACCTTT	0.463																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(5539-5541)cGc>cAc		myosin, heavy chain 2, skeletal muscle, adult							174.0	155.0	161.0					17																	10426662		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426662C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5540G>A	17.37:g.10426662C>T	ENSP00000245503:p.Arg1847His					MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1847H|CTC-297N7.7_ENST00000399342.2_RNA	p.R1847H	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			38	5924	-			1847					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5540G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787376	0.90367	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83163	-1.69;-1.69	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.39475	U	0.001357	D	0.86928	0.6051	M	0.87971	2.92	0.80722	D	1	B	0.21688	0.059	B	0.24701	0.055	D	0.84394	0.0556	10	0.56958	D	0.05	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	1847	Q9UKX2	MYH2_HUMAN	H	1847	ENSP00000245503:R1847H;ENSP00000380367:R1847H	ENSP00000245503:R1847H	R	-	2	0	MYH2	10367387	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.651000	0.83577	2.861000	0.98227	0.655000	0.94253	CGC		0.463	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		4	109	0	0	0	1	0	4	109				
SOST	50964	broad.mit.edu	37	17	41835920	41835920	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:41835920G>A	ENST00000301691.2	-	1	236	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	64					cellular response to parathyroid hormone stimulus (GO:0071374)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|response to mechanical stimulus (GO:0009612)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		TGGGGAGGCCGCCCTCCGTTC	0.562																																						ENST00000301691.2																			0				large_intestine(2)|lung(3)|prostate(1)	6						c.(190-192)Cgg>Tgg		sclerostin							41.0	39.0	40.0					17																	41835920		2203	4300	6503	SO:0001583	missense	50964				negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding	g.chr17:41835920G>A	AF326736	CCDS11468.1	17q12-q21	2014-06-28	2010-04-28			ENSG00000167941			13771	protein-coding gene	gene with protein product		605740	"""sclerosteosis"""			11179006, 11181578	Standard	NM_025237		Approved	VBCH	uc002iec.1	Q9BQB4		ENST00000301691.2:c.190C>T	17.37:g.41835920G>A	ENSP00000301691:p.Arg64Trp						p.R64W	NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)	1	236	-		Breast(137;0.00725)	64					Q495N9	Missense_Mutation	SNP	ENST00000301691.2	37	c.190C>T	CCDS11468.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614903	0.66672	.	.	ENSG00000167941	ENST00000301691	D	0.84070	-1.8	4.08	-1.22	0.09494	.	0.000000	0.85682	D	0.000000	D	0.88115	0.6350	M	0.67397	2.05	0.50039	D	0.999842	D	0.89917	1.0	D	0.80764	0.994	D	0.86605	0.1869	10	0.87932	D	0	-19.4532	13.5744	0.61866	0.0:0.0:0.671:0.329	.	64	Q9BQB4	SOST_HUMAN	W	64	ENSP00000301691:R64W	ENSP00000301691:R64W	R	-	1	2	SOST	39191446	0.758000	0.28405	0.993000	0.49108	0.998000	0.95712	0.259000	0.18405	-0.485000	0.06754	0.555000	0.69702	CGG		0.562	SOST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453502.1	NM_025237		3	18	0	0	0	1	0	3	18				
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G	rs200751463		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T460A(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1378-1380)Aca>Gca		proteoglycan 4							86.0	95.0	92.0					1																	186276229		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276229A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1378A>G	1.37:g.186276229A>G	ENSP00000399679:p.Thr460Ala					PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A	p.T460A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1423	+			460			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1378A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.758	0.324291	0.10900	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.03689	3.86;3.95;3.84;3.94	3.89	-1.26	0.09376	.	1.548120	0.04848	N	0.441778	T	0.01254	0.0041	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.45760	-0.9239	9	.	.	.	.	1.0401	0.01557	0.3011:0.1615:0.3744:0.163	.	326;367;460;419	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	417;326;419;367;460	ENSP00000356456:T417A;ENSP00000356453:T419A;ENSP00000356455:T367A;ENSP00000399679:T460A	.	T	+	1	0	PRG4	184542852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.973000	0.00666	-0.043000	0.13513	-1.818000	0.00600	ACA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	97	0	0	0	1	0	5	97				
OLFM2	93145	broad.mit.edu	37	19	9968435	9968435	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:9968435G>A	ENST00000264833.4	-	3	501	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	OLFM2_ENST00000590841.1_Missense_Mutation_p.R28W	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	106			R -> Q (in dbSNP:rs2303100). {ECO:0000269|Ref.1}.		protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCCCGGAGCCGCGCATCCAGG	0.602																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(316-318)Cgg>Tgg		olfactomedin 2							46.0	48.0	47.0					19																	9968435		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9968435G>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.316C>T	19.37:g.9968435G>A	ENSP00000264833:p.Arg106Trp					OLFM2_ENST00000590841.1_Missense_Mutation_p.R28W	p.R106W	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			3	501	-			106		R -> Q (in dbSNP:rs2303100).			Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.316C>T	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321234	0.60634	.	.	ENSG00000105088	ENST00000264833	T	0.49139	0.79	3.92	-0.425	0.12317	.	0.063680	0.64402	D	0.000012	T	0.50854	0.1640	L	0.36672	1.1	0.26009	N	0.982012	D	0.76494	0.999	D	0.67548	0.952	T	0.47873	-0.9083	9	.	.	.	.	11.135	0.48368	0.0:0.0:0.2619:0.738	.	106	O95897	NOE2_HUMAN	W	106	ENSP00000264833:R106W	.	R	-	1	2	OLFM2	9829435	0.003000	0.15002	0.527000	0.27925	0.800000	0.45204	0.000000	0.12993	0.163000	0.19507	0.313000	0.20887	CGG		0.602	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			13	28	0	0	0	1	0	13	28				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	52	0	0	0	1	0	3	52				
KIF5A	3798	broad.mit.edu	37	12	57976954	57976954	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:57976954G>T	ENST00000455537.2	+	28	3365	c.3091G>T	c.(3091-3093)Gcc>Tcc	p.A1031S	KIF5A_ENST00000286452.5_Missense_Mutation_p.A942S	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	1031	Globular.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGAGACAGCAGCCAGCTAATC	0.582											OREG0021947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(3091-3093)Gcc>Tcc		kinesin family member 5A							77.0	56.0	63.0					12																	57976954		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57976954G>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.3091G>T	12.37:g.57976954G>T	ENSP00000408979:p.Ala1031Ser		OREG0021947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1027	KIF5A_ENST00000286452.5_Missense_Mutation_p.A942S	p.A1031S	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			28	3365	+			1031			Globular.		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.3091G>T	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153270	0.94645	.	.	ENSG00000155980	ENST00000455537;ENST00000286452;ENST00000547989	T;T	0.76316	-0.97;-1.01	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.82024	0.4947	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	D	0.83886	0.0282	10	0.87932	D	0	.	17.5964	0.88013	0.0:0.0:1.0:0.0	.	942;1031	B7Z2M7;Q12840	.;KIF5A_HUMAN	S	1031;942;125	ENSP00000408979:A1031S;ENSP00000286452:A942S	ENSP00000286452:A942S	A	+	1	0	KIF5A	56263221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.355000	0.79434	2.894000	0.99253	0.655000	0.94253	GCC		0.582	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		5	17	1	0	1	1	1	5	17				
PCYOX1L	78991	broad.mit.edu	37	5	148747904	148747904	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr5:148747904C>G	ENST00000274569.4	+	6	1234	c.1172C>G	c.(1171-1173)gCa>gGa	p.A391G	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.A301G	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	391					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCAGGAGGCAGCTGTTTGG	0.567											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(901-903)gCa>gGa		prenylcysteine oxidase 1 like							92.0	98.0	96.0					5																	148747904		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148747904C>G		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1172C>G	5.37:g.148747904C>G	ENSP00000274569:p.Ala391Gly		OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.A391G	p.A301G			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1481	+			391					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.902C>G	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397409	0.83120	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.14893	2.47;2.47	5.51	5.51	0.81932	Prenylcysteine lyase (1);	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.96;0.96	D;P;P	0.87578	0.998;0.747;0.647	T	0.04900	-1.0919	10	0.23891	T	0.37	-13.0911	19.427	0.94746	0.0:1.0:0.0:0.0	.	273;301;391	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	G	391;301	ENSP00000274569:A391G;ENSP00000428512:A301G	ENSP00000274569:A391G	A	+	2	0	PCYOX1L	148728097	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.780000	0.85658	2.577000	0.86979	0.561000	0.74099	GCA		0.567	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		49	79	0	0	0	1	0	49	79				
SARM1	23098	broad.mit.edu	37	17	26712246	26712246	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:26712246G>A	ENST00000457710.3	+	5	1951	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	528	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGAAGACTGCGGCATCCACCT	0.741																																						ENST00000457710.3																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1480-1482)Ggc>Agc		sterile alpha and TIR motif containing 1																																				SO:0001583	missense	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26712246G>A	AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1480G>A	17.37:g.26712246G>A	ENSP00000406738:p.Gly494Ser					SARM1_ENST00000379061.4_3'UTR	p.G494S	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	5	1951	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		528			SAM 2.		O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	ENST00000457710.3	37	c.1480G>A		.	.	.	.	.	.	.	.	.	.	G	14.42	2.530776	0.45073	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.49	5.49	0.81192	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.266779	0.36519	N	0.002559	T	0.44159	0.1280	.	.	.	0.43360	D	0.995438	P	0.43412	0.806	B	0.34931	0.192	T	0.51733	-0.8668	8	0.66056	D	0.02	-31.9767	13.9373	0.64032	0.0:0.275:0.725:0.0	.	528	Q6SZW1	SARM1_HUMAN	S	526;494	.	ENSP00000003834:G494S	G	+	1	0	SARM1	23736373	1.000000	0.71417	0.995000	0.50966	0.490000	0.33462	3.654000	0.54453	2.558000	0.86282	0.655000	0.94253	GGC		0.741	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000255679.3	NM_015077		6	4	0	0	0	1	0	6	4				
SYNE2	23224	broad.mit.edu	37	14	64548243	64548243	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr14:64548243A>G	ENST00000344113.4	+	57	11641	c.11429A>G	c.(11428-11430)aAt>aGt	p.N3810S	SYNE2_ENST00000555002.1_Missense_Mutation_p.N444S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N3843S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N3810S|SYNE2_ENST00000357395.3_Missense_Mutation_p.N172S|SYNE2_ENST00000394768.2_Missense_Mutation_p.N172S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3810					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGCTGGCCAATCCTGCTGAC	0.463																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(514-516)aAt>aGt		spectrin repeat containing, nuclear envelope 2							123.0	107.0	113.0					14																	64548243		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64548243A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.11429A>G	14.37:g.64548243A>G	ENSP00000341781:p.Asn3810Ser					SYNE2_ENST00000344113.4_Missense_Mutation_p.N3810S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N3810S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N444S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N3843S|SYNE2_ENST00000394768.2_Missense_Mutation_p.N172S	p.N172S			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	57	11659	+			3810			Actin-binding.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.515A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	9.175	1.022081	0.19433	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.6	0.592	0.17471	.	0.683000	0.14037	N	0.345684	T	0.23532	0.0569	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.12013	0.005;0.003;0.002;0.004	B;B;B;B	0.12156	0.007;0.003;0.004;0.005	T	0.21449	-1.0245	10	0.28530	T	0.3	.	6.483	0.22073	0.5793:0.1309:0.2898:0.0	.	172;3844;3810;3810	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	S	3810;172;3810;3843;3843;444;172	ENSP00000350719:N3810S;ENSP00000349969:N172S;ENSP00000341781:N3810S;ENSP00000452570:N3843S;ENSP00000450831:N444S;ENSP00000378249:N172S	ENSP00000261678:N3843S	N	+	2	0	SYNE2	63617996	0.000000	0.05858	0.893000	0.35052	0.984000	0.73092	-0.518000	0.06267	0.151000	0.19162	-0.256000	0.11100	AAT		0.463	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		28	35	0	0	0	1	0	28	35				
CYP4A22	284541	broad.mit.edu	37	1	47603305	47603305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr1:47603305C>T	ENST00000371891.3	+	1	179	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	CYP4A22_ENST00000371890.3_Nonsense_Mutation_p.Q50*|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Nonsense_Mutation_p.Q50*|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	50						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCCCTCCAGCAGTTCCCGTG	0.617																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(148-150)Cag>Tag		cytochrome P450, family 4, subfamily A, polypeptide 22							69.0	58.0	62.0					1																	47603305		2203	4300	6503	SO:0001587	stop_gained	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47603305C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.148C>T	1.37:g.47603305C>T	ENSP00000360958:p.Gln50*					CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Nonsense_Mutation_p.Q50*|CYP4A22_ENST00000294337.3_Nonsense_Mutation_p.Q50*	p.Q50*	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			1	179	+			50					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Nonsense_Mutation	SNP	ENST00000371891.3	37	c.148C>T	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	15.90	2.968940	0.53614	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	.	.	.	2.47	0.0105	0.14083	.	0.785979	0.11865	N	0.521996	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	8.1075	0.30894	0.1329:0.4927:0.3744:0.0	.	.	.	.	X	50	.	ENSP00000294337:Q50X	Q	+	1	0	CYP4A22	47375892	0.000000	0.05858	0.502000	0.27614	0.644000	0.38419	-0.658000	0.05329	0.135000	0.18707	0.205000	0.17691	CAG		0.617	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		9	48	0	0	0	1	0	9	48				
PGK1	5230	broad.mit.edu	37	X	77369613	77369613	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:77369613C>A	ENST00000373316.4	+	4	540	c.373C>A	c.(373-375)Cat>Aat	p.H125N	PGK1_ENST00000537456.1_Missense_Mutation_p.H97N|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	125					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	CCTCCGCTTTCATGTGGAGGA	0.517																																						ENST00000373316.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(373-375)Cat>Aat		phosphoglycerate kinase 1							138.0	145.0	143.0					X																	77369613		2203	4296	6499	SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77369613C>A	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.373C>A	X.37:g.77369613C>A	ENSP00000362413:p.His125Asn					PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Missense_Mutation_p.H97N	p.H125N	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN			4	540	+			125					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	c.373C>A	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.022631	0.75275	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	D;D	0.91740	-2.9;-2.9	4.98	4.12	0.48240	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95140	0.8425	M	0.76727	2.345	0.48762	D	0.999705	D	0.71674	0.998	D	0.74023	0.982	D	0.95010	0.8151	10	0.87932	D	0	-34.1146	12.0766	0.53647	0.0:0.9142:0.0:0.0858	.	125	P00558	PGK1_HUMAN	N	125;97	ENSP00000362413:H125N;ENSP00000444708:H97N	ENSP00000362413:H125N	H	+	1	0	PGK1	77256269	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.724000	0.68500	1.009000	0.39289	-0.201000	0.12746	CAT		0.517	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			38	180	1	0	1.04594e-18	1	1.10657e-18	38	180				
TLL1	7092	broad.mit.edu	37	4	166935596	166935596	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr4:166935596T>C	ENST00000061240.2	+	8	1573	c.926T>C	c.(925-927)tTt>tCt	p.F309S	TLL1_ENST00000513213.1_Missense_Mutation_p.F309S|TLL1_ENST00000507499.1_Missense_Mutation_p.F309S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	309	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGGGGATGTTTCTGGATACC	0.418																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(925-927)tTt>tCt		tolloid-like 1							245.0	243.0	244.0					4																	166935596		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166935596T>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.926T>C	4.37:g.166935596T>C	ENSP00000061240:p.Phe309Ser					TLL1_ENST00000513213.1_Missense_Mutation_p.F309S|TLL1_ENST00000507499.1_Missense_Mutation_p.F309S	p.F309S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	8	1573	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	309			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.926T>C	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427387	0.62733	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.61040	0.14;0.14;0.14	4.96	4.96	0.65561	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.43634	0.1256	N	0.16567	0.415	0.80722	D	1	B;B	0.22414	0.069;0.055	B;B	0.24155	0.051;0.023	T	0.36986	-0.9725	10	0.46703	T	0.11	.	14.6116	0.68519	0.0:0.0:0.0:1.0	.	309;309	E9PD25;O43897	.;TLL1_HUMAN	S	309	ENSP00000061240:F309S;ENSP00000426082:F309S;ENSP00000422937:F309S	ENSP00000061240:F309S	F	+	2	0	TLL1	167155046	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.951000	0.87819	1.848000	0.53677	0.455000	0.32223	TTT		0.418	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			41	214	0	0	0	1	0	41	214				
DYNC2LI1	51626	broad.mit.edu	37	2	44031782	44031782	+	Splice_Site	SNP	A	A	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:44031782A>T	ENST00000260605.8	+	11	904	c.804A>T	c.(802-804)ggA>ggT	p.G268G	DYNC2LI1_ENST00000605786.1_Splice_Site_p.G269G|DYNC2LI1_ENST00000443170.3_Splice_Site_p.G142G	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	268					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTATTTTAGGATCTCCTCCTG	0.368																																						ENST00000260605.8																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26						c.e11-1		dynein, cytoplasmic 2, light intermediate chain 1							107.0	99.0	102.0					2																	44031782		2203	4300	6503	SO:0001630	splice_region_variant	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44031782A>T		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.803-1A>T	2.37:g.44031782A>T						DYNC2LI1_ENST00000443170.3_Splice_Site_p.G142_splice|DYNC2LI1_ENST00000605786.1_Splice_Site_p.G269_splice	p.G268_splice	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN			11	904	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	268					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Splice_Site	SNP	ENST00000260605.8	37	c.802_splice	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	A	6.910	0.537526	0.13188	.	.	ENSG00000138036	ENST00000378587	.	.	.	4.72	-3.96	0.04106	.	.	.	.	.	T	0.54775	0.1879	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55075	-0.8197	4	.	.	.	.	10.8599	0.46821	0.2396:0.0:0.6467:0.1137	.	.	.	.	V	252	.	.	D	+	2	0	DYNC2LI1	43885286	0.412000	0.25392	0.254000	0.24359	0.908000	0.53690	-0.381000	0.07417	-0.579000	0.05952	-0.256000	0.11100	GAT		0.368	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008	Silent	6	48	0	0	0	1	0	6	48				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				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)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			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			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	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.chr22:29091841G>A	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.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	65	0	0	0	1	0	3	65				
SFTPB	6439	broad.mit.edu	37	2	85892817	85892817	+	Missense_Mutation	SNP	C	C	T	rs370750455		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:85892817C>T	ENST00000519937.2	-	5	513	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	SFTPB_ENST00000409383.1_Missense_Mutation_p.R177Q|SFTPB_ENST00000342375.3_Missense_Mutation_p.R165Q|SFTPB_ENST00000393822.3_Missense_Mutation_p.R177Q			P07988	PSPB_HUMAN	surfactant protein B	165					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)		p.R165Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGAGGGTCCCGCAGAGGTTT	0.667													c|||	1	0.000199681	0.0	0.0	5008	,	,		17274	0.0		0.001	False		,,,				2504	0.0					ENST00000342375.3																			1	Substitution - Missense(1)	p.R165Q(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						c.(493-495)cGg>cAg		surfactant protein B			GLN/ARG,GLN/ARG	0,4406		0,0,2203	53.0	55.0	54.0		530,530	0.2	0.0	2		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SFTPB	NM_000542.3,NM_198843.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	177/394,177/394	85892817	1,13005	2203	4300	6503	SO:0001583	missense	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85892817C>T	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.494G>A	2.37:g.85892817C>T	ENSP00000428719:p.Arg165Gln					SFTPB_ENST00000519937.2_Missense_Mutation_p.R165Q|SFTPB_ENST00000409383.1_Missense_Mutation_p.R177Q|SFTPB_ENST00000393822.3_Missense_Mutation_p.R177Q	p.R165Q	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN			6	629	-			165					Q96R04	Missense_Mutation	SNP	ENST00000519937.2	37	c.494G>A		.	.	.	.	.	.	.	.	.	.	c	1.599	-0.526996	0.04141	0.0	1.16E-4	ENSG00000168878	ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838	T;T;T;T	0.68903	0.68;-0.18;-0.36;-0.18	1.21	0.164	0.14990	.	1.074710	0.07470	N	0.902121	T	0.37865	0.1019	N	0.08118	0	0.09310	N	1	B;B	0.19817	0.0;0.039	B;B	0.06405	0.0;0.002	T	0.22347	-1.0219	10	0.13108	T	0.6	.	2.8028	0.05419	0.0:0.6223:0.0:0.3777	.	177;165	D6W5L6;P07988	.;PSPB_HUMAN	Q	167;177;165;177;133	ENSP00000428719:R167Q;ENSP00000377409:R177Q;ENSP00000345161:R165Q;ENSP00000386346:R177Q	ENSP00000345161:R165Q	R	-	2	0	SFTPB	85746328	0.000000	0.05858	0.022000	0.16811	0.044000	0.14063	-1.761000	0.01805	0.503000	0.28060	0.506000	0.49869	CGG		0.667	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		8	39	0	0	0	1	0	8	39				
ZAN	7455	broad.mit.edu	37	7	100364680	100364680	+	RNA	SNP	G	G	A	rs376242330		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr7:100364680G>A	ENST00000348028.3	+	0	4825				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_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)				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)			CCTGACCTTCGATGGCGCCTT	0.597																																						ENST00000542585.1																			0				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)							86.0	90.0	89.0					7																	100364680		2179	4276	6455			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100364680G>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.100364680G>A						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4808	+	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			.	.	.	.	.	.	.	.	.	.	G	25.0	4.595126	0.86953	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.44	4.44	0.53790	von Willebrand factor, type D domain (3);	0.000000	0.41001	D	0.000964	D	0.90573	0.7045	H	0.94658	3.565	0.35293	D	0.782378	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94944	0.8094	10	0.87932	D	0	.	13.3488	0.60589	0.0:0.0:1.0:0.0	.	1554;1554	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	1554;1554;1554;131	ENSP00000445943:D1554N;ENSP00000445091:D1554N;ENSP00000444427:D1554N;ENSP00000441117:D131N	ENSP00000423579:D1554N	D	+	1	0	ZAN	100202616	1.000000	0.71417	0.911000	0.35937	0.182000	0.23217	8.879000	0.92398	2.432000	0.82394	0.556000	0.70494	GAT		0.597	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	81	0	0	0	1	0	4	81				
GDE1	51573	broad.mit.edu	37	16	19516377	19516377	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr16:19516377G>C	ENST00000353258.3	-	5	854	c.674C>G	c.(673-675)aCt>aGt	p.T225S	CTA-363E6.7_ENST00000569345.1_RNA	NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	225	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						AGGTCTGTGAGTTAATGCTGT	0.353																																						ENST00000353258.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						c.(673-675)aCt>aGt		glycerophosphodiester phosphodiesterase 1							211.0	204.0	206.0					16																	19516377		2197	4300	6497	SO:0001583	missense	51573				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding	g.chr16:19516377G>C		CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"""membrane interacting protein of RGS16"""	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.674C>G	16.37:g.19516377G>C	ENSP00000261386:p.Thr225Ser						p.T225S	NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN			5	854	-			225			GDPD.		O43334|Q6PKF7|Q7KYR4	Missense_Mutation	SNP	ENST00000353258.3	37	c.674C>G	CCDS10578.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931077	0.52866	.	.	ENSG00000006007	ENST00000353258	T	0.22336	1.96	5.66	1.49	0.22878	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.137089	0.64402	D	0.000003	T	0.34919	0.0914	M	0.69523	2.12	0.53688	D	0.999979	P	0.48503	0.911	P	0.55345	0.774	T	0.06826	-1.0805	10	0.66056	D	0.02	-2.2551	9.9494	0.41630	0.2784:0.0:0.7216:0.0	.	225	Q9NZC3	GDE1_HUMAN	S	225	ENSP00000261386:T225S	ENSP00000261386:T225S	T	-	2	0	GDE1	19423878	1.000000	0.71417	0.771000	0.31576	0.475000	0.33008	6.683000	0.74533	0.056000	0.16144	-0.150000	0.13652	ACT		0.353	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641		29	158	0	0	0	1	0	29	158				
APOBEC1	339	broad.mit.edu	37	12	7803711	7803711	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:7803711C>G	ENST00000229304.4	-	4	489	c.469G>C	c.(469-471)Gtc>Ctc	p.V157L		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	157					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GGGTAGTTGACAAAATTCCTC	0.438																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(469-471)Gtc>Ctc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							118.0	107.0	111.0					12																	7803711		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7803711C>G	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.469G>C	12.37:g.7803711C>G	ENSP00000229304:p.Val157Leu						p.V157L	NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN			4	489	-			157					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.469G>C	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228090	0.58777	.	.	ENSG00000111701	ENST00000229304	T	0.66815	-0.23	4.9	4.9	0.64082	APOBEC-like, C-terminal (1);	0.000000	0.44285	D	0.000467	D	0.84642	0.5517	M	0.91920	3.255	0.32991	D	0.525017	D	0.89917	1.0	D	0.87578	0.998	D	0.90385	0.4391	10	0.87932	D	0	-24.3245	13.9396	0.64046	0.0:1.0:0.0:0.0	.	157	P41238	ABEC1_HUMAN	L	157	ENSP00000229304:V157L	ENSP00000229304:V157L	V	-	1	0	APOBEC1	7694978	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	3.283000	0.51701	2.422000	0.82143	0.655000	0.94253	GTC		0.438	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		3	76	0	0	0	1	0	3	76				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	64	0	0	0	1	0	5	64				
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		5	8						5	8	---	---	---	---
MIS18BP1	55320	broad.mit.edu	37	14	45693722	45693722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr14:45693722delT	ENST00000310806.4	-	11	2526	c.2068delA	c.(2068-2070)agtfs	p.S690fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	690					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						CTGATGGGACTTTTTTTTTGA	0.373																																						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.(2068-2070)gtfs		MIS18 binding protein 1				10,4254		2,6,2124	97.0	100.0	99.0			-1.0	0.0	14		100	20,8234		2,16,4109	no	frameshift	MIS18BP1	NM_018353.4		4,22,6233	A1A1,A1R,RR		0.2423,0.2345,0.2397			45693722	30,12488	2203	4300	6503	SO:0001589	frameshift_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693722delT	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.2068delA	14.37:g.45693722delT	ENSP00000309790:p.Ser690fs						p.S690fs	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			11	2526	-			690					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	ENST00000310806.4	37	c.2068delA	CCDS9684.1																																																																																				0.373	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			8	173						8	173	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21494681	21494682	+	Frame_Shift_Ins	INS	-	-	TTAA			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr18:21494681_21494682insTTAA	ENST00000313654.9	+	58	7742_7743	c.7501_7502insTTAA	c.(7501-7503)cttfs	p.-2502fs	LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.-2446fs|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Frame_Shift_Ins_p.-837fs|LAMA3_ENST00000269217.6_Frame_Shift_Ins_p.-893fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GTTTGCAAGGCTTAATTACACC	0.347																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(7501-7503)taafs		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21494681_21494682insTTAA	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7502_7505dupTTAA	18.37:g.21494682_21494685dupTTAA	ENSP00000324532:p.Asn2502fs					LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.*2445fs|LAMA3_ENST00000269217.6_Frame_Shift_Ins_p.*892fs|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Frame_Shift_Ins_p.*836fs	p.*2501fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			58	7742_7743	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2501			Laminin G-like 1.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Ins	INS	ENST00000313654.9	37	c.7501_7502insTTAA	CCDS42419.1																																																																																				0.347	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		15	36						15	36	---	---	---	---
