#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
HIST1H2AL	8332	broad.mit.edu	37	6	27833185	27833185	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:27833185G>C	ENST00000357320.2	+	1	152	c.53G>C	c.(52-54)cGc>cCc	p.R18P		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	18						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						GCCAAGACCCGCTCTTCTCGT	0.632																																						ENST00000357320.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						c.(52-54)cGc>cCc		histone cluster 1, H2al							77.0	87.0	84.0					6																	27833185		2203	4300	6503	SO:0001583	missense	8332				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27833185G>C	X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.53G>C	6.37:g.27833185G>C	ENSP00000349873:p.Arg18Pro						p.R18P	NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN			1	152	+			18					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000357320.2	37	c.53G>C	CCDS4634.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.794438	0.31777	.	.	ENSG00000198374	ENST00000357320	T	0.70749	-0.51	4.69	4.69	0.59074	.	0.000000	0.30869	U	0.008714	T	0.78355	0.4270	.	.	.	0.44323	D	0.9972	.	.	.	.	.	.	T	0.81883	-0.0728	7	0.87932	D	0	.	16.9879	0.86345	0.0:0.0:1.0:0.0	.	.	.	.	P	18	ENSP00000349873:R18P	ENSP00000349873:R18P	R	+	2	0	HIST1H2AL	27941164	1.000000	0.71417	0.199000	0.23439	0.134000	0.20937	7.358000	0.79466	2.332000	0.79248	0.655000	0.94253	CGC		0.632	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1	NM_003511		54	57	0	0	0	1	0	54	57				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		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.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	p.R175H	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)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	35	0	0	0	1	0	31	35				
THUMPD3	25917	broad.mit.edu	37	3	9412772	9412772	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr3:9412772T>C	ENST00000345094.3	+	4	693	c.359T>C	c.(358-360)tTg>tCg	p.L120S	THUMPD3_ENST00000452837.2_Missense_Mutation_p.L120S|THUMPD3_ENST00000515662.2_Missense_Mutation_p.L120S|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	120						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TTTGAAGACTTGGCTGGAAAA	0.333																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(358-360)tTg>tCg		THUMP domain containing 3							83.0	99.0	94.0					3																	9412772		2192	4295	6487	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9412772T>C	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.359T>C	3.37:g.9412772T>C	ENSP00000339532:p.Leu120Ser					THUMPD3_ENST00000452837.2_Missense_Mutation_p.L120S|THUMPD3_ENST00000515662.2_Missense_Mutation_p.L120S|SETD5-AS1_ENST00000468186.1_RNA	p.L120S	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	4	693	+	Medulloblastoma(99;0.227)		120					Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.359T>C	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518636	0.85495	.	.	ENSG00000134077	ENST00000452837;ENST00000419437;ENST00000345094;ENST00000515662	T;T;T	0.56776	0.44;0.44;0.44	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.69823	2.125	0.58432	D	0.999998	P	0.49358	0.923	P	0.50754	0.649	T	0.68845	-0.5301	10	0.87932	D	0	-12.3195	16.0594	0.80830	0.0:0.0:0.0:1.0	.	120	Q9BV44	THUM3_HUMAN	S	120	ENSP00000395893:L120S;ENSP00000339532:L120S;ENSP00000424064:L120S	ENSP00000339532:L120S	L	+	2	0	THUMPD3	9387772	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.255000	0.78338	2.279000	0.76181	0.459000	0.35465	TTG		0.333	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		28	89	0	0	0	1	0	28	89				
PRKDC	5591	broad.mit.edu	37	8	48697720	48697720	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr8:48697720C>G	ENST00000314191.2	-	78	11114	c.11058G>C	c.(11056-11058)atG>atC	p.M3686I	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M3686I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3687					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGAAGTCGCTCATCCAGGGTG	0.458								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(11056-11058)atG>atC	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							104.0	98.0	100.0					8																	48697720		1835	4087	5922	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48697720C>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11058G>C	8.37:g.48697720C>G	ENSP00000313420:p.Met3686Ile					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M3686I	p.M3686I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			78	11114	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3687					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.11058G>C		.	.	.	.	.	.	.	.	.	.	C	12.03	1.815252	0.32053	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.80393	-1.37;-1.37	5.8	5.8	0.92144	Protein kinase-like domain (1);	0.330037	0.37053	N	0.002275	T	0.81133	0.4759	M	0.64997	1.995	0.52501	D	0.999957	B;B	0.14012	0.007;0.009	B;B	0.17098	0.005;0.017	T	0.76222	-0.3038	10	0.62326	D	0.03	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	3686;3687	E7EUY0;P78527	.;PRKDC_HUMAN	I	3686	ENSP00000313420:M3686I;ENSP00000345182:M3686I	ENSP00000313420:M3686I	M	-	3	0	PRKDC	48860273	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	2.918000	0.48829	2.735000	0.93741	0.655000	0.94253	ATG		0.458	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	49	0	0	0	1	0	3	49				
LILRP2	79166	broad.mit.edu	37	19	55220476	55220476	+	RNA	SNP	A	A	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr19:55220476A>G	ENST00000413439.1	+	0	614				AC098784.2_ENST00000583865.1_RNA					leukocyte immunoglobulin-like receptor pseudogene 2																		GGGACCCTGGATACCCAGGGT	0.582																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55220476A>G	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55220476A>G														0	614	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.582	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		5	8	0	0	0	1	0	5	8				
GPR21	2844	broad.mit.edu	37	9	125797418	125797418	+	Silent	SNP	C	C	T	rs202132540	byFrequency	TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:125797418C>T	ENST00000373642.1	+	1	613	c.573C>T	c.(571-573)ttC>ttT	p.F191F	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	191					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						ACTCCTACTTCACCCTGTTCA	0.502													C|||	14	0.00279553	0.0	0.0	5008	,	,		22268	0.0		0.0	False		,,,				2504	0.0143					ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(571-573)ttC>ttT		G protein-coupled receptor 21							150.0	133.0	139.0					9																	125797418		2203	4300	6503	SO:0001819	synonymous_variant	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797418C>T	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.573C>T	9.37:g.125797418C>T						RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron	p.F191F	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	613	+			191					B2R8W9|Q6NXU2	Silent	SNP	ENST00000373642.1	37	c.573C>T	CCDS6849.1																																																																																				0.502	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		43	67	0	0	0	1	0	43	67				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		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.chr17:7578190T>C	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	p.Y220C	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)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	13	0	0	0	1	0	18	13				
LRP2	4036	broad.mit.edu	37	2	170101387	170101387	+	Silent	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:170101387T>C	ENST00000263816.3	-	22	3531	c.3246A>G	c.(3244-3246)gcA>gcG	p.A1082A	LRP2_ENST00000443831.1_Silent_p.A945A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1082	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGCGCCAGTGTGCAGGAATGC	0.507																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(3244-3246)gcA>gcG		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						198.0	159.0	172.0					2																	170101387		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170101387T>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3246A>G	2.37:g.170101387T>C						LRP2_ENST00000443831.1_Silent_p.A945A	p.A1082A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	22	3531	-			1082			LDL-receptor class A 9.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.3246A>G	CCDS2232.1																																																																																				0.507	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	73	0	0	0	1	0	5	73				
SH3TC2	79628	broad.mit.edu	37	5	148407349	148407349	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr5:148407349T>C	ENST00000515425.1	-	11	2047	c.1946A>G	c.(1945-1947)cAc>cGc	p.H649R	SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.H196R|SH3TC2_ENST00000512049.1_Missense_Mutation_p.H642R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.H534R	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	649					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTCCTCGTGCCGGCCTAG	0.642																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(586-588)cAc>cGc		SH3 domain and tetratricopeptide repeats 2							35.0	41.0	39.0					5																	148407349		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148407349T>C	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1946A>G	5.37:g.148407349T>C	ENSP00000423660:p.His649Arg					SH3TC2_ENST00000512049.1_Missense_Mutation_p.H642R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.H534R|SH3TC2_ENST00000515425.1_Missense_Mutation_p.H649R	p.H196R			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1475	-			649					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.587A>G	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	T	0.774	-0.764561	0.02996	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	6.03	2.28	0.28536	Tetratricopeptide-like helical (1);	0.490913	0.22937	N	0.053825	T	0.49795	0.1578	L	0.54323	1.7	0.09310	N	1	P;B;B;B	0.44006	0.824;0.138;0.222;0.138	B;B;B;B	0.34180	0.177;0.065;0.087;0.065	T	0.40572	-0.9556	10	0.29301	T	0.29	-7.9603	4.2716	0.10789	0.1153:0.0634:0.2405:0.5807	.	534;642;649;649	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	R	196;649;642;534	ENSP00000441427:H196R;ENSP00000423660:H649R;ENSP00000421860:H642R;ENSP00000377886:H534R	ENSP00000377886:H534R	H	-	2	0	SH3TC2	148387542	0.011000	0.17503	0.709000	0.30452	0.236000	0.25371	0.597000	0.24059	0.479000	0.27511	0.455000	0.32223	CAC		0.642	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		19	10	0	0	0	1	0	19	10				
PRKCH	5583	broad.mit.edu	37	14	62014587	62014587	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr14:62014587C>T	ENST00000332981.5	+	13	2273	c.1888C>T	c.(1888-1890)Cct>Tct	p.P630S	RP11-47I22.1_ENST00000556543.1_RNA|RP11-47I22.4_ENST00000556347.1_Silent_p.R134R|PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Missense_Mutation_p.P469S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	630	AGC-kinase C-terminal.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AATAGAACCGCCTTTCAGACC	0.517																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1888-1890)Cct>Tct		protein kinase C, eta							153.0	149.0	150.0					14																	62014587		2203	4300	6503	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:62014587C>T	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1888C>T	14.37:g.62014587C>T	ENSP00000329127:p.Pro630Ser					RP11-47I22.4_ENST00000556347.1_Silent_p.R134R|PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Missense_Mutation_p.P469S	p.P630S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	13	2273	+			630			AGC-kinase C-terminal.		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.1888C>T	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198964	0.94997	.	.	ENSG00000027075	ENST00000332981;ENST00000555082	T;T	0.58060	0.36;0.36	5.99	5.99	0.97316	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.283897	0.30602	N	0.009279	T	0.81442	0.4823	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85013	0.0907	10	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	630	P24723	KPCL_HUMAN	S	630;469	ENSP00000329127:P630S;ENSP00000450981:P469S	ENSP00000329127:P630S	P	+	1	0	PRKCH	61084340	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	7.719000	0.84751	2.840000	0.97914	0.655000	0.94253	CCT		0.517	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		5	125	0	0	0	1	0	5	125				
SEC14L4	284904	broad.mit.edu	37	22	30890140	30890140	+	Nonsense_Mutation	SNP	G	G	A	rs141785416		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr22:30890140G>A	ENST00000255858.7	-	7	660	c.577C>T	c.(577-579)Cga>Tga	p.R193*	SEC14L4_ENST00000381982.3_Nonsense_Mutation_p.R193*|SEC14L4_ENST00000392772.2_Nonsense_Mutation_p.R139*|SEC14L4_ENST00000540456.1_Nonsense_Mutation_p.R178*|RP4-539M6.14_ENST00000442126.1_RNA|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	193	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.R193*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGCTTACCTCGAATAACAATT	0.483																																						ENST00000392772.2																			1	Substitution - Nonsense(1)	p.R193*(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.(415-417)Cga>Tga		SEC14-like 4 (S. cerevisiae)	Vitamin E(DB00163)	G	stop/ARG,stop/ARG	0,4406		0,0,2203	92.0	93.0	93.0		577,577	2.8	0.9	22	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	SEC14L4	NM_001161368.1,NM_174977.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	193/361,193/407	30890140	1,13005	2203	4300	6503	SO:0001587	stop_gained	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30890140G>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.577C>T	22.37:g.30890140G>A	ENSP00000255858:p.Arg193*					SEC14L4_ENST00000540456.1_Nonsense_Mutation_p.R178*|SEC14L4_ENST00000381982.3_Nonsense_Mutation_p.R193*|SEC14L4_ENST00000255858.7_Nonsense_Mutation_p.R193*	p.R139*			Q9UDX3	S14L4_HUMAN			7	692	-			193			CRAL-TRIO.		A5D6W7|A6NCV4	Nonsense_Mutation	SNP	ENST00000255858.7	37	c.415C>T	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	g	18.59	3.657062	0.67586	0.0	1.16E-4	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	.	.	.	5.22	2.83	0.33086	.	0.064020	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.717	0.46019	0.0:0.0:0.493:0.507	.	.	.	.	X	193;178;139;193	.	ENSP00000255858:R193X	R	-	1	2	SEC14L4	29220140	0.999000	0.42202	0.877000	0.34402	0.391000	0.30476	3.269000	0.51592	1.320000	0.45209	0.591000	0.81541	CGA		0.483	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		3	48	0	0	0	1	0	3	48				
OR2A5	393046	broad.mit.edu	37	7	143748010	143748010	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:143748010T>A	ENST00000408906.2	+	1	550	c.516T>A	c.(514-516)caT>caA	p.H172Q		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GTGGGCCCCATGAAATCAACC	0.542																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(514-516)caT>caA		olfactory receptor, family 2, subfamily A, member 5							186.0	190.0	188.0					7																	143748010		2050	4215	6265	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748010T>A	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.516T>A	7.37:g.143748010T>A	ENSP00000386208:p.His172Gln						p.H172Q	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	550	+	Melanoma(164;0.0783)		172					B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.516T>A	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	T	6.856	0.527259	0.13066	.	.	ENSG00000221836	ENST00000408906	T	0.00036	8.86	5.25	-3.54	0.04653	GPCR, rhodopsin-like superfamily (1);	0.669254	0.11655	N	0.542396	T	0.00039	0.0001	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.05321	-1.0892	10	0.19147	T	0.46	.	1.3933	0.02255	0.1206:0.2381:0.2461:0.3952	.	172	Q96R48	OR2A5_HUMAN	Q	172	ENSP00000386208:H172Q	ENSP00000386208:H172Q	H	+	3	2	OR2A5	143378943	0.000000	0.05858	0.977000	0.42913	0.930000	0.56654	-1.512000	0.02258	-0.386000	0.07821	0.455000	0.32223	CAT		0.542	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			43	182	0	0	0	1	0	43	182				
OTOP1	133060	broad.mit.edu	37	4	4199680	4199680	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr4:4199680C>T	ENST00000296358.4	-	5	905	c.881G>A	c.(880-882)cGc>cAc	p.R294H		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	294					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTCAACTTTGCGCCCGATGTT	0.562																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(880-882)cGc>cAc		otopetrin 1							75.0	67.0	70.0					4																	4199680		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199680C>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.881G>A	4.37:g.4199680C>T	ENSP00000296358:p.Arg294His						p.R294H	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	905	-			294					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.881G>A	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471642	0.63737	.	.	ENSG00000163982	ENST00000296358	T	0.26067	1.76	4.56	4.56	0.56223	.	0.106321	0.64402	D	0.000005	T	0.47930	0.1472	M	0.83384	2.64	0.80722	D	1	D	0.63046	0.992	P	0.53518	0.728	T	0.59752	-0.7395	10	0.87932	D	0	.	17.7176	0.88342	0.0:1.0:0.0:0.0	.	294	Q7RTM1	OTOP1_HUMAN	H	294	ENSP00000296358:R294H	ENSP00000296358:R294H	R	-	2	0	OTOP1	4250581	1.000000	0.71417	0.952000	0.39060	0.268000	0.26511	7.308000	0.78929	2.270000	0.75569	0.404000	0.27445	CGC		0.562	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		6	49	0	0	0	1	0	6	49				
AQP7	364	broad.mit.edu	37	9	33385821	33385821	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:33385821G>A	ENST00000537089.1	-	6	611	c.293C>T	c.(292-294)aCg>aTg	p.T98M	AQP7_ENST00000539936.1_Missense_Mutation_p.T190M|AQP7_ENST00000541274.1_Silent_p.H58H|AQP7_ENST00000377425.4_Missense_Mutation_p.T133M			O14520	AQP7_HUMAN	aquaporin 7	190					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CTCCTGGTCCGTGATGGCGAA	0.612																																						ENST00000537089.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(292-294)aCg>aTg		aquaporin 7							120.0	105.0	110.0					9																	33385821		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385821G>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.293C>T	9.37:g.33385821G>A	ENSP00000441619:p.Thr98Met					AQP7_ENST00000541274.1_Silent_p.H58H|AQP7_ENST00000539936.1_Missense_Mutation_p.T190M|AQP7_ENST00000377425.4_Missense_Mutation_p.T133M	p.T98M			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	6	611	-			190					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37	c.293C>T		.	.	.	.	.	.	.	.	.	.	g	5.339	0.247849	0.10130	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	D;D;D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.02	2.07	0.26955	Aquaporin-like (2);	0.651343	0.16794	N	0.199262	D	0.83751	0.5322	M	0.65320	2	0.09310	N	1	P;P;P;P	0.43542	0.705;0.783;0.81;0.484	B;B;B;B	0.42214	0.21;0.38;0.225;0.137	T	0.72027	-0.4414	10	0.33141	T	0.24	-1.1949	8.4263	0.32731	0.0852:0.4539:0.4609:0.0	.	189;190;133;190	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	M	98;189;58;190;133;98;189;190;126	ENSP00000441619:T98M;ENSP00000368821:T189M;ENSP00000412868:T58M;ENSP00000297988:T190M;ENSP00000396111:T133M;ENSP00000410138:T98M;ENSP00000368820:T189M;ENSP00000439534:T190M;ENSP00000368817:T126M	ENSP00000297988:T190M	T	-	2	0	AQP7	33375821	0.000000	0.05858	0.776000	0.31678	0.290000	0.27261	-0.276000	0.08514	0.257000	0.21650	-0.188000	0.12872	ACG		0.612	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		31	50	0	0	0	1	0	31	50				
LRP1	4035	broad.mit.edu	37	12	57552342	57552342	+	Missense_Mutation	SNP	C	C	G	rs568919727		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:57552342C>G	ENST00000243077.3	+	11	2185	c.1719C>G	c.(1717-1719)atC>atG	p.I573M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	573					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCGGCTTCATCTACTTTGCCG	0.577																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(1717-1719)atC>atG		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						95.0	78.0	84.0					12																	57552342		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57552342C>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1719C>G	12.37:g.57552342C>G	ENSP00000243077:p.Ile573Met						p.I573M	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	11	2185	+			573					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.1719C>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247936	0.39697	.	.	ENSG00000123384	ENST00000243077	T	0.55413	0.52	4.3	4.3	0.51218	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	T	0.49915	0.1585	M	0.76838	2.35	0.80722	D	1	P	0.41041	0.736	B	0.36289	0.221	T	0.57254	-0.7843	10	0.52906	T	0.07	.	9.8813	0.41236	0.2034:0.7966:0.0:0.0	.	573	Q07954	LRP1_HUMAN	M	573	ENSP00000243077:I573M	ENSP00000243077:I573M	I	+	3	3	LRP1	55838609	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.404000	0.34623	2.687000	0.91594	0.561000	0.74099	ATC		0.577	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		17	16	0	0	0	1	0	17	16				
ASIC3	9311	broad.mit.edu	37	7	150747946	150747946	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:150747946C>A	ENST00000349064.5	+	4	1113	c.915C>A	c.(913-915)agC>agA	p.S305R	ASIC3_ENST00000297512.8_Missense_Mutation_p.S305R|ASIC3_ENST00000357922.4_Missense_Mutation_p.S305R	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	305					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										ccagccccagccccagcccTC	0.637																																						ENST00000357922.4																			0											c.(913-915)agC>agA		acid-sensing (proton-gated) ion channel 3							16.0	19.0	18.0					7																	150747946		2199	4298	6497	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150747946C>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.915C>A	7.37:g.150747946C>A	ENSP00000344838:p.Ser305Arg					ASIC3_ENST00000349064.5_Missense_Mutation_p.S305R|ASIC3_ENST00000297512.8_Missense_Mutation_p.S305R	p.S305R	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			4	1509	+			305					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.915C>A	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	C	6.151	0.396061	0.11638	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.65364	-0.15;-0.13;-0.14	5.06	2.2	0.27929	.	4.118970	0.01217	N	0.007988	T	0.40719	0.1128	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.12156	0.007;0.002;0.007	T	0.30119	-0.9989	10	0.15499	T	0.54	-2.0792	4.4092	0.11425	0.1787:0.6331:0.0:0.1882	.	305;305;305	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	R	305	ENSP00000350600:S305R;ENSP00000344838:S305R;ENSP00000297512:S305R	ENSP00000297512:S305R	S	+	3	2	ACCN3	150378879	0.078000	0.21339	0.070000	0.20053	0.141000	0.21300	0.082000	0.14847	0.615000	0.30124	0.650000	0.86243	AGC		0.637	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		5	11	1	0	0.014758	1	0.0156261	5	11				
PPP2R5B	5526	broad.mit.edu	37	11	64699330	64699330	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr11:64699330C>T	ENST00000164133.2	+	11	1728	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	369					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GTTTCCAGCCCCCATTTCCAG	0.557																																						ENST00000164133.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						c.(1105-1107)cCc>cTc		protein phosphatase 2, regulatory subunit B', beta							60.0	59.0	59.0					11																	64699330		2201	4297	6498	SO:0001583	missense	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64699330C>T	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.1106C>T	11.37:g.64699330C>T	ENSP00000164133:p.Pro369Leu						p.P369L	NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN			11	1728	+			369					Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	c.1106C>T	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573613	0.86542	.	.	ENSG00000068971	ENST00000164133;ENST00000527441	.	.	.	3.98	3.98	0.46160	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76528	0.4000	M	0.79805	2.47	0.80722	D	1	D	0.58620	0.983	P	0.60682	0.878	T	0.79933	-0.1594	9	0.59425	D	0.04	-22.7017	14.3869	0.66949	0.0:1.0:0.0:0.0	.	369	Q15173	2A5B_HUMAN	L	369	.	ENSP00000164133:P369L	P	+	2	0	PPP2R5B	64455906	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.239000	0.78182	2.511000	0.84671	0.455000	0.32223	CCC		0.557	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		7	31	0	0	0	1	0	7	31				
ZDHHC11	79844	broad.mit.edu	37	5	843744	843744	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr5:843744C>A	ENST00000283441.8	-	4	982	c.599G>T	c.(598-600)gGg>gTg	p.G200V	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G200V|ZDHHC11_ENST00000503758.2_5'Flank|ZDHHC11_ENST00000511539.1_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	200						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCGGAGCACCCCGGGGTTCAC	0.637																																						ENST00000283441.8																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(598-600)gGg>gTg		zinc finger, DHHC-type containing 11							85.0	66.0	72.0					5																	843744		2200	4290	6490	SO:0001583	missense	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:843744C>A	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.599G>T	5.37:g.843744C>A	ENSP00000283441:p.Gly200Val					ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G200V|ZDHHC11_ENST00000511539.1_5'UTR	p.G200V	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		4	982	-			200					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.599G>T	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	c	6.810	0.518445	0.13005	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.20881	2.04;2.04	3.98	-7.96	0.01144	.	456.195000	0.00567	U	0.000282	T	0.10294	0.0252	N	0.12443	0.215	0.09310	N	1	B	0.09022	0.002	B	0.26864	0.074	T	0.21075	-1.0256	10	0.52906	T	0.07	-2.4999	1.0124	0.01500	0.192:0.3298:0.2891:0.1891	.	200	Q9H8X9	ZDH11_HUMAN	V	200	ENSP00000397719:G200V;ENSP00000283441:G200V	ENSP00000283441:G200V	G	-	2	0	ZDHHC11	896744	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.895000	0.00172	-2.683000	0.00407	-0.511000	0.04467	GGG		0.637	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		3	16	1	0	0.150653	1	0.150653	3	16				
ANKRD54	129138	broad.mit.edu	37	22	38227984	38227984	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr22:38227984A>G	ENST00000215941.4	-	8	1061	c.869T>C	c.(868-870)cTc>cCc	p.L290P	ANKRD54_ENST00000406423.1_Missense_Mutation_p.L170P|ANKRD54_ENST00000411961.2_Missense_Mutation_p.L274P|ANKRD54_ENST00000609454.1_Missense_Mutation_p.L97P|ANKRD54_ENST00000498417.1_5'UTR	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	290	Nuclear export signal (NES). {ECO:0000250}.				nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					CTGCAGACTGAGGGAGGTGAA	0.602																																						ENST00000215941.4																			0				lung(1)	1						c.(868-870)cTc>cCc		ankyrin repeat domain 54							80.0	60.0	67.0					22																	38227984		2203	4300	6503	SO:0001583	missense	129138							g.chr22:38227984A>G	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.869T>C	22.37:g.38227984A>G	ENSP00000215941:p.Leu290Pro					ANKRD54_ENST00000406423.1_Missense_Mutation_p.L170P|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000411961.2_Missense_Mutation_p.L274P	p.L290P	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN			8	1061	-	Melanoma(58;0.045)		290					Q6ZSB1|Q9UGV1	Missense_Mutation	SNP	ENST00000215941.4	37	c.869T>C	CCDS13959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.8|25.8	4.679176|4.679176	0.88542|0.88542	.|.	.|.	ENSG00000100124|ENSG00000100124	ENST00000215941;ENST00000406423;ENST00000411961|ENST00000458278	T;T;T|.	0.80033|.	-1.33;-0.85;-1.33|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56731|0.56731	0.2005|0.2005	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.81914|.	0.921;0.995|.	T|T	0.52704|0.52704	-0.8540|-0.8540	10|5	0.87932|.	D|.	0|.	-8.9943|-8.9943	16.4504|16.4504	0.83984|0.83984	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	170;290|.	B5MCX7;Q6NXT1|.	.;ANR54_HUMAN|.	P|P	290;170;274|206	ENSP00000215941:L290P;ENSP00000384392:L170P;ENSP00000405782:L274P|.	ENSP00000215941:L290P|.	L|S	-|-	2|1	0|0	ANKRD54|ANKRD54	36557930|36557930	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.797000|7.797000	0.85911|0.85911	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.602	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319490.1	NM_138797		3	11	0	0	0	1	0	3	11				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	50	0	0	0	1	0	5	50				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			33	34	0	0	0	1	0	33	34				
RIMBP2	23504	broad.mit.edu	37	12	130919378	130919378	+	Silent	SNP	G	G	A	rs574899300		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:130919378G>A	ENST00000261655.4	-	11	2266	c.2103C>T	c.(2101-2103)taC>taT	p.Y701Y	RIMBP2_ENST00000535703.1_Silent_p.Y609Y|RIMBP2_ENST00000536002.1_Silent_p.Y609Y	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	701					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTGAGGCGGCGTACTGCCCCG	0.587													g|||	1	0.000199681	0.0	0.0014	5008	,	,		15164	0.0		0.0	False		,,,				2504	0.0					ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2101-2103)taC>taT		RIMS binding protein 2							62.0	68.0	66.0					12																	130919378		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130919378G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2103C>T	12.37:g.130919378G>A						RIMBP2_ENST00000535703.1_Silent_p.Y609Y|RIMBP2_ENST00000536002.1_Silent_p.Y609Y	p.Y701Y	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	11	2266	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	701					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.2103C>T	CCDS31925.1																																																																																				0.587	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		19	20	0	0	0	1	0	19	20				
NXF3	56000	broad.mit.edu	37	X	102339304	102339304	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:102339304G>A	ENST00000395065.3	-	3	418	c.317C>T	c.(316-318)cCg>cTg	p.P106L	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.P17L	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	106					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGTCCCATCCGGCATGTTCCC	0.473																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(316-318)cCg>cTg		nuclear RNA export factor 3							215.0	170.0	185.0					X																	102339304		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102339304G>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.317C>T	X.37:g.102339304G>A	ENSP00000378504:p.Pro106Leu					NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.P17L	p.P106L	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			3	418	-			106					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.317C>T	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	9.528	1.110122	0.20714	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.37915	1.17;1.17	3.69	-1.36	0.09085	Nuclear RNA export factor Tap, RNA-binding domain (1);	0.516866	0.19798	N	0.105806	T	0.15825	0.0381	N	0.22421	0.69	0.09310	N	1	P;B	0.50819	0.939;0.005	B;B	0.36922	0.236;0.005	T	0.22243	-1.0222	10	0.44086	T	0.13	-5.8615	4.0272	0.09693	0.0:0.3727:0.2139:0.4134	.	106;106	B4DYI1;Q9H4D5	.;NXF3_HUMAN	L	106;17	ENSP00000378504:P106L;ENSP00000404347:P17L	ENSP00000378504:P106L	P	-	2	0	NXF3	102225960	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.388000	0.07352	-0.394000	0.07727	-1.147000	0.01851	CCG		0.473	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		23	38	0	0	0	1	0	23	38				
SGCE	8910	broad.mit.edu	37	7	94259039	94259039	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:94259039G>C	ENST00000265735.7	-	2	334	c.224C>G	c.(223-225)cCa>cGa	p.P75R	SGCE_ENST00000415788.2_Missense_Mutation_p.P111R|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000428696.2_Missense_Mutation_p.P75R|SGCE_ENST00000445866.2_Missense_Mutation_p.P75R|SGCE_ENST00000447873.1_Missense_Mutation_p.P75R	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	75					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACCAGGTTTTGGGTAAGGTGG	0.333																																						ENST00000415788.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14						c.(331-333)cCa>cGa		sarcoglycan, epsilon							106.0	118.0	114.0					7																	94259039		2203	4299	6502	SO:0001583	missense	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94259039G>C	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.224C>G	7.37:g.94259039G>C	ENSP00000265735:p.Pro75Arg					SGCE_ENST00000265735.7_Missense_Mutation_p.P75R|SGCE_ENST00000447873.1_Missense_Mutation_p.P75R|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000445866.2_Missense_Mutation_p.P75R|SGCE_ENST00000428696.2_Missense_Mutation_p.P75R	p.P111R			O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		3	419	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		75					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.332C>G	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319176	0.81469	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39	5.66	5.66	0.87406	Dystroglycan-type cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.97926	0.9318	L	0.61218	1.895	0.80722	D	1	D;P;P;D	0.89917	0.993;0.927;0.887;1.0	D;P;P;D	0.91635	0.938;0.575;0.595;0.999	D	0.96310	0.9228	10	0.15952	T	0.53	-25.6879	20.1124	0.97915	0.0:0.0:1.0:0.0	.	111;75;75;75	B7Z2R4;E9PF60;G5E9K6;O43556	.;.;.;SGCE_HUMAN	R	75;75;75;75;111	ENSP00000265735:P75R;ENSP00000398930:P75R;ENSP00000388734:P75R;ENSP00000397536:P75R;ENSP00000405313:P111R	ENSP00000265735:P75R	P	-	2	0	SGCE	94096975	1.000000	0.71417	0.970000	0.41538	0.960000	0.62799	9.476000	0.97823	2.834000	0.97654	0.655000	0.94253	CCA		0.333	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			4	152	0	0	0	1	0	4	152				
LRP2	4036	broad.mit.edu	37	2	170127551	170127551	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:170127551G>T	ENST00000263816.3	-	16	2468	c.2183C>A	c.(2182-2184)aCc>aAc	p.T728N	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	728					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATCTTCCTGGGTAGACAAGGT	0.438																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(2182-2184)aCc>aAc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						112.0	94.0	100.0					2																	170127551		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170127551G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2183C>A	2.37:g.170127551G>T	ENSP00000263816:p.Thr728Asn					LRP2_ENST00000443831.1_Intron	p.T728N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	16	2468	-			728					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2183C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369173	0.42003	.	.	ENSG00000081479	ENST00000263816	D	0.91792	-2.91	5.77	1.93	0.25924	Six-bladed beta-propeller, TolB-like (1);	0.164709	0.53938	D	0.000043	D	0.83959	0.5367	L	0.35793	1.09	0.20703	N	0.999867	P	0.40144	0.704	B	0.38378	0.272	T	0.72786	-0.4188	10	0.21540	T	0.41	.	5.1578	0.15044	0.1287:0.1115:0.6326:0.1272	.	728	P98164	LRP2_HUMAN	N	728	ENSP00000263816:T728N	ENSP00000263816:T728N	T	-	2	0	LRP2	169835797	0.995000	0.38212	0.000000	0.03702	0.969000	0.65631	5.478000	0.66806	0.141000	0.18875	0.655000	0.94253	ACC		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		7	27	1	0	5.18039e-06	1	5.709e-06	7	27				
CD72	971	broad.mit.edu	37	9	35616134	35616134	+	Missense_Mutation	SNP	G	G	A	rs535216398		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:35616134G>A	ENST00000396757.1	-	6	658	c.494C>T	c.(493-495)gCg>gTg	p.A165V	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.A165V			P21854	CD72_HUMAN	CD72 molecule	165					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGACTCTGCGCCAGCTCTCT	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		20154	0.0		0.0	False		,,,				2504	0.001					ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.(493-495)gCg>gTg		CD72 molecule							116.0	111.0	112.0					9																	35616134		2203	4300	6503	SO:0001583	missense	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35616134G>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.494C>T	9.37:g.35616134G>A	ENSP00000379980:p.Ala165Val					CD72_ENST00000259633.4_Missense_Mutation_p.A165V|CD72_ENST00000490239.1_5'UTR	p.A165V			P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	658	-			165						Missense_Mutation	SNP	ENST00000396757.1	37	c.494C>T	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751937	0.49362	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	T;T	0.54675	0.56;0.56	5.14	-0.371	0.12525	.	0.857289	0.10174	N	0.706693	T	0.36386	0.0965	L	0.40543	1.245	0.22446	N	0.999098	B;B	0.24258	0.1;0.1	B;B	0.16289	0.015;0.015	T	0.19289	-1.0310	10	0.28530	T	0.3	-0.3594	4.825	0.13412	0.1621:0.0:0.4135:0.4243	.	165;165	Q5TLG3;P21854	.;CD72_HUMAN	V	165	ENSP00000379980:A165V;ENSP00000259633:A165V	ENSP00000259633:A165V	A	-	2	0	CD72	35606134	0.804000	0.28969	0.103000	0.21229	0.534000	0.34807	0.372000	0.20467	-0.054000	0.13266	-1.478000	0.00992	GCG		0.607	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		19	58	0	0	0	1	0	19	58				
ACOXL	55289	broad.mit.edu	37	2	111559245	111559245	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:111559245C>A	ENST00000389811.4	+	8	788	c.564C>A	c.(562-564)gaC>gaA	p.D188E	ACOXL_ENST00000340561.4_Missense_Mutation_p.D188E|ACOXL_ENST00000439055.1_Missense_Mutation_p.D188E			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	188					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGGTGTGGACAATGGGATAT	0.453																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(562-564)gaC>gaA		acyl-CoA oxidase-like							148.0	137.0	141.0					2																	111559245		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111559245C>A		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.564C>A	2.37:g.111559245C>A	ENSP00000374461:p.Asp188Glu					ACOXL_ENST00000439055.1_Missense_Mutation_p.D188E|ACOXL_ENST00000340561.4_Missense_Mutation_p.D188E	p.D188E			Q9NUZ1	ACOXL_HUMAN			8	788	+			188					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.564C>A		.	.	.	.	.	.	.	.	.	.	C	17.03	3.285536	0.59867	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000340561;ENST00000417074	D;D;D;D	0.99098	-5.42;-5.42;-5.42;-5.42	5.52	-2.98	0.05513	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.181621	0.45361	D	0.000379	D	0.98570	0.9522	M	0.73372	2.23	0.30675	N	0.752926	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.991;0.999;0.998	D	0.96738	0.9544	10	0.87932	D	0	-38.69	6.0569	0.19816	0.1266:0.4084:0.0:0.465	.	188;188;188	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	E	188;188;39;188;26	ENSP00000374461:D188E;ENSP00000407761:D188E;ENSP00000343717:D188E;ENSP00000387832:D26E	ENSP00000343717:D188E	D	+	3	2	ACOXL	111275716	1.000000	0.71417	0.627000	0.29227	0.684000	0.39900	0.564000	0.23563	-0.820000	0.04318	-0.377000	0.06932	GAC		0.453	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		15	53	1	0	1.3612e-06	1	1.53135e-06	15	53				
SATL1	340562	broad.mit.edu	37	X	84362924	84362924	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:84362924G>C	ENST00000395409.3	-	1	1050	c.490C>G	c.(490-492)Cca>Gca	p.P164A	SATL1_ENST00000509231.1_Missense_Mutation_p.P351A|SATL1_ENST00000332921.5_Missense_Mutation_p.P164A			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	164	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CGTTGCGGTGGACCTGGTTGG	0.542													G|||	1	0.000264901	0.0	0.0	3775	,	,		13438	0.0		0.0	False		,,,				2504	0.001					ENST00000509231.1																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(1051-1053)Cca>Gca		spermidine/spermine N1-acetyl transferase-like 1							215.0	137.0	163.0					X																	84362924		2203	4300	6503	SO:0001583	missense	340562						N-acetyltransferase activity	g.chrX:84362924G>C	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.490C>G	X.37:g.84362924G>C	ENSP00000378804:p.Pro164Ala					SATL1_ENST00000395409.3_Missense_Mutation_p.P164A|SATL1_ENST00000332921.5_Missense_Mutation_p.P164A	p.P351A			Q86VE3	SATL1_HUMAN			1	1130	-			164			N-acetyltransferase.		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37	c.1051C>G		.	.	.	.	.	.	.	.	.	.	G	0.006	-2.111656	0.00353	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.40225	1.04;1.04;1.04	2.0	-4.0	0.04057	.	.	.	.	.	T	0.19208	0.0461	N	0.20986	0.625	0.09310	N	1	B;P	0.35481	0.053;0.504	B;B	0.36335	0.019;0.222	T	0.24154	-1.0168	9	0.08381	T	0.77	-0.4123	2.2381	0.04013	0.1643:0.1425:0.489:0.2042	.	164;351	Q86VE3;E9PB72	SATL1_HUMAN;.	A	164;164;351	ENSP00000378804:P164A;ENSP00000329115:P164A;ENSP00000425421:P351A	ENSP00000329115:P164A	P	-	1	0	SATL1	84249580	0.020000	0.18652	0.000000	0.03702	0.009000	0.06853	-0.229000	0.09098	-1.219000	0.02597	0.190000	0.17370	CCA		0.542	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		21	0	0	0	0	1	0	21	0				
DPP4	1803	broad.mit.edu	37	2	162903987	162903987	+	Missense_Mutation	SNP	C	C	T	rs201004732	byFrequency	TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:162903987C>T	ENST00000360534.3	-	3	679	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	40					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GTAAGTTTTGCGACTGTCAGC	0.343													C|||	2	0.000399361	0.0	0.0	5008	,	,		17441	0.0		0.002	False		,,,				2504	0.0					ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(118-120)cGc>cAc		dipeptidyl-peptidase 4	Sitagliptin(DB01261)	C	HIS/ARG	0,4404		0,0,2202	75.0	76.0	75.0		119	4.8	0.9	2		75	3,8597	2.2+/-6.3	0,3,4297	yes	missense	DPP4	NM_001935.3	29	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	40/767	162903987	3,13001	2202	4300	6502	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162903987C>T	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.119G>A	2.37:g.162903987C>T	ENSP00000353731:p.Arg40His						p.R40H	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			3	679	-			40					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.119G>A	CCDS2216.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.88	3.243492	0.58995	0.0	3.49E-4	ENSG00000197635	ENST00000360534	D	0.96011	-3.88	5.72	4.85	0.62838	.	0.280581	0.39020	N	0.001495	D	0.94301	0.8169	M	0.79475	2.455	0.44862	D	0.997879	B	0.17667	0.023	B	0.12156	0.007	D	0.92262	0.5818	10	0.66056	D	0.02	-2.6232	10.7872	0.46411	0.0:0.913:0.0:0.087	.	40	P27487	DPP4_HUMAN	H	40	ENSP00000353731:R40H	ENSP00000353731:R40H	R	-	2	0	DPP4	162612233	0.898000	0.30612	0.926000	0.36857	0.911000	0.54048	1.763000	0.38461	1.566000	0.49654	0.655000	0.94253	CGC		0.343	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			3	36	0	0	0	1	0	3	36				
CD163L1	283316	broad.mit.edu	37	12	7522118	7522118	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:7522118C>A	ENST00000313599.3	-	15	3931	c.3874G>T	c.(3874-3876)Gct>Tct	p.A1292S	CD163L1_ENST00000416109.2_Missense_Mutation_p.A1302S|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1292S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1292	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCAGCCAGAGCAGAGCCACAG	0.592																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3874-3876)Gct>Tct		CD163 molecule-like 1							105.0	100.0	101.0					12																	7522118		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7522118C>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3874G>T	12.37:g.7522118C>A	ENSP00000315945:p.Ala1292Ser					CD163L1_ENST00000396630.1_Missense_Mutation_p.A1292S|CD163L1_ENST00000416109.2_Missense_Mutation_p.A1302S	p.A1292S			Q9NR16	C163B_HUMAN			15	3931	-			1292			SRCR 12.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3874G>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513687	0.64522	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.34275	1.37;1.37;1.37	2.67	1.72	0.24424	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.298961	0.23626	U	0.046182	T	0.63710	0.2534	M	0.92367	3.3	0.30294	N	0.790114	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64428	-0.6410	10	0.59425	D	0.04	.	9.302	0.37851	0.0:0.776:0.224:0.0	.	1302;1292	E7EVK4;Q9NR16	.;C163B_HUMAN	S	1292;1302;1292	ENSP00000315945:A1292S;ENSP00000393474:A1302S;ENSP00000379871:A1292S	ENSP00000315945:A1292S	A	-	1	0	CD163L1	7413385	0.997000	0.39634	0.004000	0.12327	0.118000	0.20060	3.729000	0.54999	0.615000	0.30124	0.563000	0.77884	GCT		0.592	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		6	128	1	0	0.0215528	1	0.0223817	6	128				
TEK	7010	broad.mit.edu	37	9	27157891	27157891	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:27157891G>A	ENST00000380036.4	+	2	557	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	TEK_ENST00000406359.4_Missense_Mutation_p.E39K|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	39					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ATCTGATGCTGAAACATCTCT	0.478																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(115-117)Gaa>Aaa		TEK tyrosine kinase, endothelial							201.0	170.0	180.0					9																	27157891		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27157891G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.115G>A	9.37:g.27157891G>A	ENSP00000369375:p.Glu39Lys					TEK_ENST00000406359.4_Missense_Mutation_p.E39K|TEK_ENST00000519097.1_Intron	p.E39K	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	2	557	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	39					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.115G>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906727	0.92107	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	T;T	0.73258	-0.69;-0.73	5.93	5.93	0.95920	Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000073	T	0.77301	0.4110	N	0.24115	0.695	0.50171	D	0.999853	P;D;D;D	0.69078	0.624;0.997;0.997;0.997	B;D;D;D	0.80764	0.398;0.991;0.994;0.991	T	0.78365	-0.2232	10	0.56958	D	0.05	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	72;39;39;39	Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	K	39	ENSP00000369375:E39K;ENSP00000383977:E39K	ENSP00000343716:E39K	E	+	1	0	TEK	27147891	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	6.664000	0.74437	2.798000	0.96311	0.655000	0.94253	GAA		0.478	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			19	83	0	0	0	1	0	19	83				
LRP1	4035	broad.mit.edu	37	12	57552234	57552234	+	Silent	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:57552234C>T	ENST00000243077.3	+	11	2077	c.1611C>T	c.(1609-1611)atC>atT	p.I537I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	537					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCAGGCATCATCCGGGGCA	0.592																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(1609-1611)atC>atT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						93.0	75.0	81.0					12																	57552234		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57552234C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1611C>T	12.37:g.57552234C>T							p.I537I	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	11	2077	+			537					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.1611C>T	CCDS8932.1																																																																																				0.592	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		16	22	0	0	0	1	0	16	22				
MKL2	57496	broad.mit.edu	37	16	14340397	14340397	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr16:14340397T>C	ENST00000341243.5	+	10	1247	c.1247T>C	c.(1246-1248)aTt>aCt	p.I416T	MKL2_ENST00000574045.1_Missense_Mutation_p.I427T|MKL2_ENST00000571589.1_Missense_Mutation_p.I427T|MKL2_ENST00000318282.5_Missense_Mutation_p.I427T			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	416	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGGACCTCATTGAGCGCCTA	0.507																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1279-1281)aTt>aCt		MKL/myocardin-like 2							76.0	68.0	71.0					16																	14340397		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14340397T>C	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1247T>C	16.37:g.14340397T>C	ENSP00000345841:p.Ile416Thr					MKL2_ENST00000574045.1_Missense_Mutation_p.I427T|MKL2_ENST00000318282.5_Missense_Mutation_p.I427T|MKL2_ENST00000341243.5_Missense_Mutation_p.I416T	p.I427T	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			12	1452	+			416					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.1280T>C		.	.	.	.	.	.	.	.	.	.	T	23.9	4.471621	0.84533	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	H	0.95402	3.665	0.58432	D	0.999995	D;D	0.89917	1.0;0.996	D;D	0.77557	0.99;0.99	D	0.89354	0.3663	9	0.45353	T	0.12	-27.2627	15.4961	0.75653	0.0:0.0:0.0:1.0	.	427;427	B4DGT8;Q9ULH7-4	.;.	T	427;416	.	ENSP00000339086:I427T	I	+	2	0	MKL2	14247898	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.991000	0.88244	2.250000	0.74265	0.533000	0.62120	ATT		0.507	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		8	42	0	0	0	1	0	8	42				
ALOX15	246	broad.mit.edu	37	17	4540428	4540428	+	Silent	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:4540428G>A	ENST00000570836.1	-	8	1029	c.933C>T	c.(931-933)ctC>ctT	p.L311L	ALOX15_ENST00000574640.1_Silent_p.L272L|ALOX15_ENST00000545513.1_Silent_p.L333L|ALOX15_ENST00000293761.3_Silent_p.L311L			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	311	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CCATGGGCAAGAGTTTCCCAT	0.522																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(931-933)ctC>ctT		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						84.0	83.0	83.0					17																	4540428		2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4540428G>A	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.933C>T	17.37:g.4540428G>A						ALOX15_ENST00000574640.1_Silent_p.L272L|ALOX15_ENST00000293761.3_Silent_p.L311L|ALOX15_ENST00000545513.1_Silent_p.L333L	p.L311L			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	8	1029	-			311			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.933C>T	CCDS11049.1																																																																																				0.522	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			8	55	0	0	0	1	0	8	55				
RASSF6	166824	broad.mit.edu	37	4	74442136	74442136	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr4:74442136A>G	ENST00000342081.3	-	10	1155	c.1025T>C	c.(1024-1026)aTa>aCa	p.I342T	RASSF6_ENST00000395777.2_Missense_Mutation_p.I276T|RASSF6_ENST00000335049.5_Missense_Mutation_p.I298T|RASSF6_ENST00000307439.5_Missense_Mutation_p.I310T	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	342	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CTTTGTTACTATTCTTTGAAT	0.328																																						ENST00000307439.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17						c.(928-930)aTa>aCa		Ras association (RalGDS/AF-6) domain family member 6							109.0	112.0	111.0					4																	74442136		2203	4300	6503	SO:0001583	missense	166824				apoptosis|signal transduction		protein binding	g.chr4:74442136A>G	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.1025T>C	4.37:g.74442136A>G	ENSP00000340578:p.Ile342Thr					RASSF6_ENST00000342081.3_Missense_Mutation_p.I342T|RASSF6_ENST00000335049.5_Missense_Mutation_p.I298T|RASSF6_ENST00000395777.2_Missense_Mutation_p.I276T	p.I310T	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		10	1223	-	Breast(15;0.00102)		342					Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Missense_Mutation	SNP	ENST00000342081.3	37	c.929T>C	CCDS3558.1	.	.	.	.	.	.	.	.	.	.	A	2.081	-0.410727	0.04799	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.36157	1.72;1.69;1.27;1.73	6.07	0.294	0.15747	SARAH (1);	0.359748	0.34932	N	0.003577	T	0.15825	0.0381	N	0.05259	-0.085	0.23533	N	0.997477	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.14578	0.011;0.004;0.002	T	0.22800	-1.0206	10	0.23891	T	0.37	-3.4998	10.4321	0.44413	0.46:0.0:0.54:0.0	.	298;276;342	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	T	310;342;276;298	ENSP00000303877:I310T;ENSP00000340578:I342T;ENSP00000379123:I276T;ENSP00000335582:I298T	ENSP00000303877:I310T	I	-	2	0	RASSF6	74661000	0.900000	0.30661	0.106000	0.21319	0.675000	0.39556	1.419000	0.34793	0.063000	0.16370	-0.408000	0.06270	ATA		0.328	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		3	56	0	0	0	1	0	3	56				
POM121L9P	29774	broad.mit.edu	37	22	24659536	24659536	+	RNA	SNP	C	C	T	rs564427351	byFrequency	TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr22:24659536C>T	ENST00000414583.2	+	0	3061					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		GATCTCATCGCGGACACCACT	0.512													C|||	2	0.000399361	0.0008	0.0	5008	,	,		24328	0.0		0.001	False		,,,				2504	0.0					ENST00000414583.2																			0																																																			0							g.chr22:24659536C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659536C>T								NR_003714.1						0	3061	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.512	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	18	0	0	0	1	0	3	18				
SCNN1A	6337	broad.mit.edu	37	12	6457372	6457372	+	Silent	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:6457372G>A	ENST00000228916.2	-	13	1775	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	SCNN1A_ENST00000360168.3_Silent_p.F618F|SCNN1A_ENST00000358945.3_Silent_p.F581F|SCNN1A_ENST00000540037.1_Silent_p.F259F|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000543768.1_Silent_p.F582F	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	559					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCGAGGAGCCGAACCACAGGC	0.567																																						ENST00000358945.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1741-1743)ttC>ttT		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						66.0	64.0	65.0					12																	6457372		2203	4300	6503	SO:0001819	synonymous_variant	0				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6457372G>A	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1677C>T	12.37:g.6457372G>A						SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Silent_p.F618F|SCNN1A_ENST00000228916.2_Silent_p.F559F|SCNN1A_ENST00000540037.1_Silent_p.F259F|SCNN1A_ENST00000543768.1_Silent_p.F582F	p.F581F			P37088	SCNNA_HUMAN			13	2183	-			559					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	ENST00000228916.2	37	c.1743C>T	CCDS8543.1																																																																																				0.567	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			30	63	0	0	0	1	0	30	63				
DPT	1805	broad.mit.edu	37	1	168698267	168698267	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:168698267T>C	ENST00000367817.3	-	1	235	c.146A>G	c.(145-147)cAg>cGg	p.Q49R		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	49	2 X 53-55 AA tandem repeats.				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CTGGGGACACTGGTAGCTGAA	0.552																																						ENST00000367817.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12						c.(145-147)cAg>cGg		dermatopontin							117.0	94.0	102.0					1																	168698267		2203	4300	6503	SO:0001583	missense	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168698267T>C	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.146A>G	1.37:g.168698267T>C	ENSP00000356791:p.Gln49Arg						p.Q49R	NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN			1	235	-	all_hematologic(923;0.208)		49			2 X 53-55 AA tandem repeats.		A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	c.146A>G	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741256	0.69304	.	.	ENSG00000143196	ENST00000367817	T	0.47528	0.84	5.19	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.28400	0.0702	M	0.63843	1.955	0.46437	D	0.999044	P	0.46912	0.886	B	0.41813	0.367	T	0.10730	-1.0617	9	0.34782	T	0.22	-8.6251	10.2554	0.43394	0.0:0.0788:0.0:0.9212	.	49	Q07507	DERM_HUMAN	R	49	ENSP00000356791:Q49R	ENSP00000356791:Q49R	Q	-	2	0	DPT	166964891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.587000	0.82613	0.819000	0.34492	0.533000	0.62120	CAG		0.552	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		5	71	0	0	0	1	0	5	71				
KRT83	3889	broad.mit.edu	37	12	52715004	52715004	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:52715004C>T	ENST00000293670.3	-	1	178	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	39	Head.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGGAGATGCCGCGGTAGGG	0.706																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(115-117)gGc>gAc		keratin 83							21.0	29.0	26.0					12																	52715004		2193	4281	6474	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52715004C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.116G>A	12.37:g.52715004C>T	ENSP00000293670:p.Gly39Asp						p.G39D	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	178	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		39			Head.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.116G>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357523	0.82243	.	.	ENSG00000170523	ENST00000293670	D	0.88664	-2.41	4.55	4.55	0.56014	.	0.000000	0.35466	U	0.003200	D	0.94909	0.8354	M	0.92604	3.325	0.41859	D	0.990215	D	0.67145	0.996	D	0.68039	0.955	D	0.95535	0.8607	10	0.87932	D	0	.	11.8286	0.52282	0.0:0.9066:0.0:0.0934	.	39	P78385	KRT83_HUMAN	D	39	ENSP00000293670:G39D	ENSP00000293670:G39D	G	-	2	0	KRT83	51001271	0.404000	0.25328	0.998000	0.56505	0.975000	0.68041	1.853000	0.39358	2.516000	0.84829	0.655000	0.94253	GGC		0.706	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		8	1005	0	0	0	1	0	8	1005				
CYP2A13	1553	broad.mit.edu	37	19	41601812	41601812	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr19:41601812C>A	ENST00000330436.3	+	9	1451	c.1451C>A	c.(1450-1452)cCa>cAa	p.P484Q		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	484					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GCCACGATCCCACGAAACTAC	0.632																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(1450-1452)cCa>cAa		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						141.0	126.0	131.0					19																	41601812		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41601812C>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1451C>A	19.37:g.41601812C>A	ENSP00000332679:p.Pro484Gln						p.P484Q	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			9	1451	+			484					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.1451C>A	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185815	0.57909	.	.	ENSG00000197838	ENST00000330436	T	0.70631	-0.5	3.97	2.89	0.33648	.	0.064020	0.64402	U	0.000006	D	0.86990	0.6066	H	0.95679	3.705	0.26944	N	0.96619	D	0.71674	0.998	D	0.76071	0.987	T	0.80274	-0.1451	10	0.87932	D	0	.	11.0371	0.47808	0.0:0.903:0.0:0.097	.	484	Q16696	CP2AD_HUMAN	Q	484	ENSP00000332679:P484Q	ENSP00000332679:P484Q	P	+	2	0	CYP2A13	46293652	0.385000	0.25172	0.051000	0.19133	0.513000	0.34164	3.737000	0.55060	0.866000	0.35629	0.473000	0.43528	CCA		0.632	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		18	74	1	0	4.35082e-09	1	5.10748e-09	18	74				
VPS13B	157680	broad.mit.edu	37	8	100533211	100533211	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr8:100533211G>A	ENST00000358544.2	+	30	4904	c.4793G>A	c.(4792-4794)aGa>aAa	p.R1598K	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1573K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1598					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCCTTGGCAGATCTGTCCTT	0.403																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(4792-4794)aGa>aAa		vacuolar protein sorting 13 homolog B (yeast)							137.0	126.0	130.0					8																	100533211		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100533211G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4793G>A	8.37:g.100533211G>A	ENSP00000351346:p.Arg1598Lys					VPS13B_ENST00000357162.2_Missense_Mutation_p.R1573K|VPS13B_ENST00000395996.1_3'UTR	p.R1598K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		30	4904	+	Breast(36;3.73e-07)		1598					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4793G>A	CCDS6280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.966760|4.966760	0.92855|0.92855	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000521559|ENST00000357162;ENST00000358544	.|D;D	.|0.91945	.|-2.94;-2.93	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96340|0.96340	0.8806|0.8806	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.996;0.994	.|D;D	.|0.76071	.|0.987;0.97	D|D	0.96468|0.96468	0.9346|0.9346	5|10	.|0.87932	.|D	.|0	.|.	19.7232|19.7232	0.96151|0.96151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1573;1598	.|Q7Z7G8-2;Q7Z7G8	.|.;VP13B_HUMAN	N|K	29|1573;1598	.|ENSP00000349685:R1573K;ENSP00000351346:R1598K	.|ENSP00000349685:R1573K	D|R	+|+	1|2	0|0	VPS13B|VPS13B	100602387|100602387	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.913000|8.913000	0.92730|0.92730	2.634000|2.634000	0.89283|0.89283	0.557000|0.557000	0.71058|0.71058	GAT|AGA		0.403	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		9	56	0	0	0	1	0	9	56				
GALNT1	2589	broad.mit.edu	37	18	33243711	33243711	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr18:33243711A>G	ENST00000269195.5	+	2	362	c.259A>G	c.(259-261)Atg>Gtg	p.M87V	GALNT1_ENST00000537549.1_Missense_Mutation_p.M27V|GALNT1_ENST00000591081.1_Missense_Mutation_p.M87V	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	87					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GTTCAATTTAATGGCAAGTGA	0.378																																						ENST00000269195.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(259-261)Atg>Gtg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)							137.0	130.0	132.0					18																	33243711		2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33243711A>G		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.259A>G	18.37:g.33243711A>G	ENSP00000269195:p.Met87Val					GALNT1_ENST00000537549.1_Missense_Mutation_p.M27V|GALNT1_ENST00000591081.1_Missense_Mutation_p.M87V	p.M87V	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN			2	362	+			87					Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.259A>G	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.302358	0.23736	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.51325	0.76;0.71	5.42	5.42	0.78866	.	0.037727	0.85682	N	0.000000	T	0.28995	0.0720	N	0.13371	0.34	0.58432	D	0.999999	B	0.17268	0.021	B	0.14578	0.011	T	0.12243	-1.0555	10	0.10111	T	0.7	.	13.397	0.60858	1.0:0.0:0.0:0.0	.	87	Q10472	GALT1_HUMAN	V	87;87;27	ENSP00000269195:M87V;ENSP00000440910:M27V	ENSP00000269195:M87V	M	+	1	0	GALNT1	31497709	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.306000	0.78905	2.059000	0.61396	0.533000	0.62120	ATG		0.378	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		13	47	0	0	0	1	0	13	47				
WFDC8	90199	broad.mit.edu	37	20	44184381	44184381	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr20:44184381A>T	ENST00000357199.4	-	4	482	c.404T>A	c.(403-405)tTc>tAc	p.F135Y	WFDC8_ENST00000289953.2_Missense_Mutation_p.F135Y	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	135	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CTCATTTAAGAAGTTGTTGGC	0.443																																						ENST00000357199.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(403-405)tTc>tAc		WAP four-disulfide core domain 8							136.0	120.0	126.0					20																	44184381		2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44184381A>T	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.404T>A	20.37:g.44184381A>T	ENSP00000361735:p.Phe135Tyr					WFDC8_ENST00000289953.2_Missense_Mutation_p.F135Y	p.F135Y	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN			4	482	-		Myeloproliferative disorder(115;0.0122)	135			BPTI/Kunitz inhibitor.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.404T>A	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.203520	0.38905	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.77229	-1.08;-1.08	4.26	4.26	0.50523	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.000000	0.56097	D	0.000021	D	0.85779	0.5776	M	0.76727	2.345	0.43814	D	0.996371	D	0.89917	1.0	D	0.91635	0.999	D	0.86575	0.1850	10	0.66056	D	0.02	.	10.0544	0.42237	1.0:0.0:0.0:0.0	.	135	Q8IUA0	WFDC8_HUMAN	Y	135	ENSP00000361735:F135Y;ENSP00000289953:F135Y	ENSP00000289953:F135Y	F	-	2	0	WFDC8	43617795	1.000000	0.71417	0.988000	0.46212	0.011000	0.07611	3.782000	0.55401	2.141000	0.66446	0.533000	0.62120	TTC		0.443	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			4	70	0	0	0	1	0	4	70				
NUP153	9972	broad.mit.edu	37	6	17675524	17675524	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:17675524T>C	ENST00000262077.2	-	4	658	c.659A>G	c.(658-660)cAg>cGg	p.Q220R	NUP153_ENST00000537253.1_Missense_Mutation_p.Q220R	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	220					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGCAGTGTGCTGTGAGAGTGA	0.418																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(658-660)cAg>cGg		nucleoporin 153kDa							160.0	163.0	162.0					6																	17675524		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17675524T>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.659A>G	6.37:g.17675524T>C	ENSP00000262077:p.Gln220Arg					NUP153_ENST00000537253.1_Missense_Mutation_p.Q220R	p.Q220R	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		4	658	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	220					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.659A>G	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.497233	0.85069	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.32272	1.46;1.46	5.74	5.74	0.90152	Nucleoporin, Nup153-like (1);	0.000000	0.49916	D	0.000131	T	0.45196	0.1330	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.67145	0.99;0.996;0.984	P;D;P	0.67900	0.871;0.954;0.828	T	0.47368	-0.9123	10	0.66056	D	0.02	-5.3137	16.0502	0.80755	0.0:0.0:0.0:1.0	.	220;242;220	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	R	220;242;220	ENSP00000262077:Q220R;ENSP00000444029:Q220R	ENSP00000262077:Q220R	Q	-	2	0	NUP153	17783503	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.627000	0.67784	2.197000	0.70478	0.528000	0.53228	CAG		0.418	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			30	32	0	0	0	1	0	30	32				
TNXB	7148	broad.mit.edu	37	6	32036883	32036883	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:32036883G>A	ENST00000375244.3	-	16	5819	c.5618C>T	c.(5617-5619)aCg>aTg	p.T1873M	TNXB_ENST00000375247.2_Missense_Mutation_p.T1873M			P22105	TENX_HUMAN	tenascin XB	1955	Fibronectin type-III 11. {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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGTCGGGGCCGTGGTCTCAGT	0.622																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5617-5619)aCg>aTg		tenascin XB							29.0	33.0	31.0					6																	32036883		1315	2555	3870	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.chr6:32036883G>A	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.5618C>T	6.37:g.32036883G>A	ENSP00000364393:p.Thr1873Met					TNXB_ENST00000375247.2_Missense_Mutation_p.T1873M	p.T1873M			P22105	TENX_HUMAN			16	5819	-			1955			Fibronectin type-III 11.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5618C>T		.	.	.	.	.	.	.	.	.	.	G	10.89	1.479222	0.26511	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.55930	0.65;0.49	4.78	-5.51	0.02568	.	3.421720	0.00864	N	0.001950	T	0.12944	0.0314	L	0.27053	0.805	0.09310	N	1	B	0.31599	0.33	B	0.23716	0.048	T	0.04400	-1.0954	10	0.44086	T	0.13	.	3.3021	0.06987	0.1081:0.0896:0.3539:0.4484	.	1873	P22105-3	.	M	1873	ENSP00000364393:T1873M;ENSP00000364396:T1873M	ENSP00000364393:T1873M	T	-	2	0	TNXB	32144861	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.950000	0.03889	-1.442000	0.01955	0.655000	0.94253	ACG		0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	43	0	0	0	1	0	10	43				
SAMD11	148398	broad.mit.edu	37	1	879504	879505	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:879504_879505insC	ENST00000342066.3	+	14	2100_2101	c.2017_2018insC	c.(2017-2019)gccfs	p.A673fs		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	673					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACTTCCAGGGGCCCCCGACCCT	0.653																																						ENST00000342066.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(2017-2019)cccfs		sterile alpha motif domain containing 11																																				SO:0001589	frameshift_variant	148398					nucleus		g.chr1:879504_879505insC	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.2022dupC	1.37:g.879509_879509dupC	ENSP00000342313:p.Ala673fs						p.P673fs	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	14	2100_2101	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	673					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Frame_Shift_Ins	INS	ENST00000342066.3	37	c.2017_2018insC	CCDS2.2																																																																																				0.653	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		11	113						11	113	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109293	145109294	+	RNA	INS	-	-	A	rs7364468|rs7367456		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:145109293_145109294insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											caaaaaaaaagaaaaaaaaaaa	0.431																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109293_145109294insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109304_145109304dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.431	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		2	4						2	4	---	---	---	---
S100A7A	338324	broad.mit.edu	37	1	153391722	153391726	+	Frame_Shift_Del	DEL	CATAG	CATAG	-	rs112079848|rs146240434	byFrequency	TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:153391722_153391726delCATAG	ENST00000368729.4	+	3	300_304	c.243_247delCATAG	c.(241-249)gacatagccfs	p.IA82fs	S100A7A_ENST00000329256.2_Frame_Shift_Del_p.IA82fs|S100A7A_ENST00000368728.2_Frame_Shift_Del_p.IA82fs	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	82	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGGGAGACATAGCCGCAGACTA	0.517																																						ENST00000368729.4																			0				cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12						c.(241-249)gaccfs		S100 calcium binding protein A7A																																				SO:0001589	frameshift_variant	338324					cytoplasm	calcium ion binding	g.chr1:153391722_153391726delCATAG	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.243_247delCATAG	1.37:g.153391722_153391726delCATAG	ENSP00000357718:p.Ile82fs					S100A7A_ENST00000368728.2_Frame_Shift_Del_p.DIA81fs|S100A7A_ENST00000329256.2_Frame_Shift_Del_p.DIA81fs	p.DIA81fs	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	300_304	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		81			EF-hand 2.		D3DV38|Q5SY69	Frame_Shift_Del	DEL	ENST00000368729.4	37	c.243_247delCATAG	CCDS30872.1																																																																																				0.517	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		20	40						20	40	---	---	---	---
IGKV1D-16	28901	broad.mit.edu	37	2	90139264	90139264	+	RNA	DEL	T	T	-			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:90139264delT	ENST00000492446.1	+	0	82									immunoglobulin kappa variable 1D-16																		TGGACATTTGTTTTTATGTTT	0.443																																						ENST00000492446.1																			0																				52.0	54.0	53.0					2																	90139264		1803	4043	5846			0							g.chr2:90139264delT	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139264delT														0	82	+									RNA	DEL	ENST00000492446.1	37																																																																																						0.443	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		59	87						59	87	---	---	---	---
FAM177A1P1	728710	broad.mit.edu	37	4	99877753	99877754	+	RNA	DEL	AA	AA	-	rs33952764|rs373692463|rs59266273	byFrequency	TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr4:99877753_99877754delAA	ENST00000583654.1	+	0	237																											actctgtctcaaaaaaaaaaaa	0.45																																						ENST00000583654.1																			0																																																			0							g.chr4:99877753_99877754delAA																													4.37:g.99877763_99877764delAA														0	237	+									RNA	DEL	ENST00000583654.1	37																																																																																						0.450	RP11-571L19.7-001	KNOWN	non_canonical_other|not_organism_supported|basic	antisense	antisense	OTTHUMT00000441787.1			2	4						2	4	---	---	---	---
GARS	2617	broad.mit.edu	37	7	30634583	30634585	+	In_Frame_Del	DEL	CTG	CTG	-	rs150213018		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:30634583_30634585delCTG	ENST00000389266.3	+	1	287_289	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000583664.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	20					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCGCGCCGCTCTGCTGCTGCTGC	0.749																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(46-48)del		glycyl-tRNA synthetase	Glycine(DB00145)			181,3387		9,163,1612						-3.2	0.0		dbSNP_134	8	497,6929		13,471,3229	no	coding	GARS	NM_002047.2		22,634,4841	A1A1,A1R,RR		6.6927,5.0729,6.167				678,10316				SO:0001651	inframe_deletion	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30634583_30634585delCTG	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.46_48delCTG	7.37:g.30634592_30634594delCTG	ENSP00000373918:p.Leu20del						p.L20del	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			1	287_289	+			20					B3KQA2|B4DIA0|Q969Y1	In_Frame_Del	DEL	ENST00000389266.3	37	c.46_48delCTG	CCDS43564.1																																																																																				0.749	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		3	5						3	5	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		8	79						8	79	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100463503	100463504	+	Frame_Shift_Ins	INS	-	-	C	rs149306595		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:100463503_100463504insC	ENST00000354161.3	+	14	2146_2147	c.2021_2022insC	c.(2020-2025)agccccfs	p.SP674fs	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	674					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCTCCTGGGAGCCCCCGGGCCC	0.678																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(2020-2022)accfs		solute carrier family 12, member 9																																				SO:0001589	frameshift_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463503_100463504insC	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.2026dupC	7.37:g.100463508_100463508dupC	ENSP00000275730:p.Ser674fs						p.T674fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			14	2146_2147	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		674					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Frame_Shift_Ins	INS	ENST00000354161.3	37	c.2021_2022insC	CCDS5707.1																																																																																				0.678	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		8	44						8	44	---	---	---	---
CELP	1057	broad.mit.edu	37	9	135962465	135962465	+	RNA	DEL	T	T	-	rs10901234|rs386739105|rs74753118|rs386739104	byFrequency	TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:135962465delT	ENST00000411440.2	+	0	972					NR_001275.2				carboxyl ester lipase pseudogene																		AGGATGCCCCTGTGCCCCTCA	0.677													T|T|-|deletion	2605	0.520168	0.3169	0.6527	5008	,	,		13192	0.6647		0.5915	False		,,,				2504	0.4785					ENST00000411440.2																			0																																																			0							g.chr9:135962465delT	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962465delT								NR_001275.2						0	972	+									RNA	DEL	ENST00000411440.2	37																																																																																						0.677	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808		4	5						4	5	---	---	---	---
ABCA17P	650655	broad.mit.edu	37	16	2475097	2475098	+	RNA	DEL	TC	TC	-	rs372790950|rs372517981		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr16:2475097_2475098delTC	ENST00000469908.1	+	0	3047					NR_003574.1				ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene																		GGTAActctgtctctctctctc	0.559																																						ENST00000469908.1																			0																																																			0							g.chr16:2475097_2475098delTC	DQ266102		16p13.3	2012-03-14	2010-03-12		ENSG00000238098	ENSG00000238098		"""ATP binding cassette transporters / subfamily A"""	32972	pseudogene	pseudogene						16968533	Standard	NR_003574		Approved		uc002cqc.1		OTTHUMG00000154348		16.37:g.2475107_2475108delTC								NR_003574.1						0	3047	+									RNA	DEL	ENST00000469908.1	37																																																																																						0.559	ABCA17P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334904.1	NR_003574		7	51						7	51	---	---	---	---
AP1M2	10053	broad.mit.edu	37	19	10685148	10685148	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr19:10685148delA	ENST00000250244.6	-	11	1276	c.1194delT	c.(1192-1194)attfs	p.I398fs	AP1M2_ENST00000590923.1_Frame_Shift_Del_p.I400fs	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	398	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CACTTTTCTCAATGATCTTCA	0.582																																						ENST00000590923.1																			0				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(1198-1200)atfs		adaptor-related protein complex 1, mu 2 subunit							44.0	43.0	43.0					19																	10685148		2055	4228	6283	SO:0001589	frameshift_variant	10053				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:10685148delA	AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.1194delT	19.37:g.10685148delA	ENSP00000250244:p.Ile398fs					AP1M2_ENST00000250244.6_Frame_Shift_Del_p.I398fs	p.I400fs			Q9Y6Q5	AP1M2_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		11	1283	-			398			MHD.		B2RDV5|Q9BSI8	Frame_Shift_Del	DEL	ENST00000250244.6	37	c.1200delT	CCDS45964.1																																																																																				0.582	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76920170	76920173	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:76920170_76920173delTTCT	ENST00000373344.5	-	11	4118_4121	c.3904_3907delAGAA	c.(3904-3909)agaactfs	p.RT1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.RT1264fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGTTTTCCAGTTCTTTTTTTCCCT	0.377			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)	central_nervous_system(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3904-3909)ctfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920170_76920173delTTCT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3904_3907delAGAA	X.37:g.76920170_76920173delTTCT	ENSP00000362441:p.Arg1302fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.RT1264fs	p.RT1302fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4118_4121	-			1302					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3904_3907delAGAA	CCDS14434.1																																																																																				0.377	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		69	3						69	3	---	---	---	---
ZFP92	139735	broad.mit.edu	37	X	152686423	152686423	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:152686423delG	ENST00000338647.5	+	4	589	c.588delG	c.(586-588)ctgfs	p.L196fs	U82695.10_ENST00000569962.1_lincRNA	NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	196					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(4)	6						TCGCGCTCCTGGAGCACCAGC	0.637																																						ENST00000338647.5																			0				breast(2)|endometrium(4)	6						c.(586-588)ctfs		ZFP92 zinc finger protein							45.0	40.0	42.0					X																	152686423		692	1591	2283	SO:0001589	frameshift_variant	139735				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:152686423delG	U82695	CCDS59177.1	Xq28	2013-01-08	2012-11-27		ENSG00000189420	ENSG00000189420		"""Zinc fingers, C2H2-type"", ""-"""	12865	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp92 in mouse"", ""zinc finger protein 92 homolog (mouse)"""				Standard	NM_001136273		Approved	ZNF897	uc011myo.2	A6NM28	OTTHUMG00000024198	ENST00000338647.5:c.588delG	X.37:g.152686423delG	ENSP00000462054:p.Leu196fs						p.L196fs	NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN			4	589	+			196						Frame_Shift_Del	DEL	ENST00000338647.5	37	c.588delG	CCDS59177.1																																																																																				0.637	ZFP92-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332220.2			2	4						2	4	---	---	---	---
