#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			6	118	0	0	0	1	0	6	118				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	218	0	0	0	1	0	4	218				
LRRC43	254050	broad.mit.edu	37	12	122685179	122685179	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr12:122685179C>T	ENST00000339777.4	+	9	1620	c.1592C>T	c.(1591-1593)aCg>aTg	p.T531M	LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.T346M|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	531	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		aaagacaggacggggaaagga	0.582																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1591-1593)aCg>aTg		leucine rich repeat containing 43							83.0	100.0	94.0					12																	122685179		1977	4130	6107	SO:0001583	missense	254050							g.chr12:122685179C>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1592C>T	12.37:g.122685179C>T	ENSP00000344233:p.Thr531Met					LRRC43_ENST00000425921.1_Missense_Mutation_p.T346M|LRRC43_ENST00000537733.1_3'UTR	p.T531M	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	9	1620	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		531			Lys-rich.		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1592C>T	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	7.161	0.585681	0.13749	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.56444	0.46;0.88	3.47	-6.95	0.01628	.	1.779500	0.04190	N	0.328128	T	0.27900	0.0687	N	0.14661	0.345	0.09310	N	1	P	0.36712	0.566	B	0.27887	0.084	T	0.33059	-0.9883	10	0.51188	T	0.08	1.9008	8.315	0.32095	0.244:0.5677:0.1883:0.0	.	531	Q8N309	LRC43_HUMAN	M	531;402;346	ENSP00000344233:T531M;ENSP00000416628:T346M	ENSP00000289014:T402M	T	+	2	0	LRRC43	121251132	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.110000	0.15437	-0.984000	0.03507	-2.272000	0.00274	ACG		0.582	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		11	39	0	0	0	1	0	11	39				
HNF4A	3172	broad.mit.edu	37	20	43042409	43042409	+	Missense_Mutation	SNP	C	C	T	rs147342965		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:43042409C>T	ENST00000316099.4	+	4	550	c.461C>T	c.(460-462)gCg>gTg	p.A154V	HNF4A_ENST00000415691.2_Missense_Mutation_p.A154V|HNF4A_ENST00000457232.1_Missense_Mutation_p.A132V|HNF4A_ENST00000609795.1_Missense_Mutation_p.A132V|HNF4A_ENST00000316673.4_Missense_Mutation_p.A132V|HNF4A_ENST00000443598.2_Missense_Mutation_p.A154V	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	154					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCATCAATGCGCTCCTGCAG	0.632																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(460-462)gCg>gTg		hepatocyte nuclear factor 4, alpha							75.0	57.0	63.0					20																	43042409		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43042409C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.461C>T	20.37:g.43042409C>T	ENSP00000312987:p.Ala154Val					HNF4A_ENST00000415691.1_Missense_Mutation_p.A154V|HNF4A_ENST00000443598.2_Missense_Mutation_p.A154V|HNF4A_ENST00000457232.1_Missense_Mutation_p.A132V	p.A154V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	550	+		Myeloproliferative disorder(115;0.0122)	154					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.461C>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327703	0.24080	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	5.16	4.22	0.49857	Nuclear hormone receptor, ligand-binding (2);	0.156081	0.56097	N	0.000025	D	0.83027	0.5165	N	0.08118	0	0.45097	D	0.998112	B;B;B;B;B;B;B	0.11235	0.003;0.0;0.0;0.003;0.003;0.001;0.004	B;B;B;B;B;B;B	0.06405	0.0;0.0;0.0;0.002;0.0;0.001;0.002	T	0.75317	-0.3360	10	0.23891	T	0.37	.	8.4171	0.32678	0.0:0.7075:0.0:0.2925	.	147;154;154;154;132;132;132	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	V	132;132;154;154;184;154	ENSP00000315180:A132V;ENSP00000396216:A132V;ENSP00000312987:A154V;ENSP00000410911:A154V;ENSP00000412111:A154V	ENSP00000312987:A154V	A	+	2	0	HNF4A	42475823	0.990000	0.36364	0.952000	0.39060	0.866000	0.49608	2.642000	0.46596	1.167000	0.42706	-0.262000	0.10625	GCG		0.632	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			3	9	0	0	0	1	0	3	9				
CACNA1G	8913	broad.mit.edu	37	17	48703526	48703526	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:48703526G>A	ENST00000359106.5	+	38	6548	c.6548G>A	c.(6547-6549)aGc>aAc	p.S2183N	CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2056N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2090N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2138N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2072N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2104N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2127N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2067N|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S2056N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2149N|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2079N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S2038N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S2033N|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2065N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2097N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2120N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2045N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2083N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2112N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2049N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2093N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2172N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2183					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CACTCCCGCAGCCACAGCAAG	0.657											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(6166-6168)aGc>aAc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						30.0	40.0	37.0					17																	48703526		2111	4226	6337	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48703526G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6548G>A	17.37:g.48703526G>A	ENSP00000352011:p.Ser2183Asn		OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2172N|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2065N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2049N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S2038N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2072N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S2183N|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2149N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2112N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2045N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2056N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2120N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2104N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2067N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2090N|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S2033N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2138N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2083N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2097N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2093N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2079N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2127N	p.S2056N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	6539	+	Breast(11;6.7e-17)		2183					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.6167G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	0.463	-0.888153	0.02511	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000359106;ENST00000429973;ENST00000515411	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96619	-3.98;-3.98;-3.9;-3.98;-3.95;-4.0;-4.07;-4.04;-4.05;-4.06;-3.9;-3.92;-3.98;-3.97;-3.88;-4.01;-3.96;-3.9;-4.01;-3.92;-4.0;-3.9	5.1	1.44	0.22558	.	1.814990	0.02512	N	0.091625	D	0.91246	0.7241	N	0.22421	0.69	0.21897	N	0.99948	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.08055	0.0;0.0;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.003;0.001;0.0;0.001;0.0;0.001;0.001;0.0;0.001;0.0;0.0;0.0;0.001	T	0.81820	-0.0757	10	0.19590	T	0.45	.	3.6948	0.08360	0.2909:0.0:0.517:0.1921	.	2033;2045;2038;2120;2093;2065;2097;2056;2083;2112;2079;2172;2072;2127;2090;2160;2138;2056;2049;2104;2067;2183	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN	N	2067;2056;2149;2049;2112;2079;2045;2033;2038;2056;2138;2172;2093;2083;2104;2090;2065;2127;2097;2183;2072;2120	ENSP00000353990:S2067N;ENSP00000339302:S2056N;ENSP00000347078:S2149N;ENSP00000409759:S2049N;ENSP00000425522:S2112N;ENSP00000426261:S2079N;ENSP00000425451:S2045N;ENSP00000422407:S2033N;ENSP00000426814:S2038N;ENSP00000427238:S2056N;ENSP00000423112:S2138N;ENSP00000420918:S2172N;ENSP00000426172:S2093N;ENSP00000423045:S2083N;ENSP00000427173:S2104N;ENSP00000426098:S2090N;ENSP00000425698:S2065N;ENSP00000426232:S2127N;ENSP00000423317:S2097N;ENSP00000352011:S2183N;ENSP00000414388:S2072N;ENSP00000423155:S2120N	ENSP00000339302:S2056N	S	+	2	0	CACNA1G	46058525	0.973000	0.33851	0.402000	0.26371	0.031000	0.12232	1.506000	0.35747	0.527000	0.28560	0.462000	0.41574	AGC		0.657	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		3	25	0	0	0	1	0	3	25				
PDLIM3	27295	broad.mit.edu	37	4	186444599	186444599	+	Splice_Site	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr4:186444599C>T	ENST00000284770.5	-	3	320	c.247G>A	c.(247-249)Gga>Aga	p.G83R	PDLIM3_ENST00000284771.6_Splice_Site_p.G83R|PDLIM3_ENST00000284767.5_Splice_Site_p.G83R	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	83	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TGAGTTTCTCCCCTGGAAATA	0.343																																						ENST00000284767.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.e3-1		PDZ and LIM domain 3							69.0	68.0	68.0					4																	186444599		2203	4300	6503	SO:0001630	splice_region_variant	27295					sarcomere	zinc ion binding	g.chr4:186444599C>T	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.246-1G>A	4.37:g.186444599C>T						PDLIM3_ENST00000284770.5_Splice_Site_p.G83_splice|PDLIM3_ENST00000284771.6_Splice_Site_p.G83_splice	p.G83_splice			Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	3	314	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	83			PDZ.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Splice_Site	SNP	ENST00000284770.5	37	c.245_splice	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	c	12.69	2.013949	0.35511	.	.	ENSG00000154553	ENST00000284770;ENST00000284771;ENST00000284767	T;T;T	0.47177	0.85;0.85;0.85	5.22	5.22	0.72569	PDZ/DHR/GLGF (3);	0.272836	0.41194	D	0.000938	T	0.47820	0.1466	N	0.25380	0.74	0.28541	N	0.912121	P;B;B	0.41313	0.745;0.023;0.002	P;B;B	0.47827	0.558;0.056;0.006	T	0.46803	-0.9165	10	0.45353	T	0.12	-6.1638	18.7876	0.91961	0.0:1.0:0.0:0.0	.	83;83;83	Q53GG5-3;Q53GG5-2;Q53GG5	.;.;PDLI3_HUMAN	R	83	ENSP00000284770:G83R;ENSP00000284771:G83R;ENSP00000284767:G83R	ENSP00000284767:G83R	G	-	1	0	PDLIM3	186681593	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	1.713000	0.37951	2.437000	0.82529	0.651000	0.88453	GGA		0.343	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476	Missense_Mutation	6	17	0	0	0	1	0	6	17				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	27	0	0	0	1	0	5	27				
COA6	388753	broad.mit.edu	37	1	234509498	234509498	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:234509498C>T	ENST00000366613.1	+	1	70	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	COA6_ENST00000366615.4_Intron|RP5-827C21.4_ENST00000451795.1_RNA|RP5-827C21.6_ENST00000610233.1_RNA|COA6_ENST00000366612.1_5'UTR	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)	12						mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)										GTCCCCGAGCCGCGGGTTCCT	0.642																																						ENST00000366613.1																			0											c.(34-36)Cgc>Tgc		cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)							55.0	60.0	58.0					1																	234509498		2203	4300	6503	SO:0001583	missense	388753							g.chr1:234509498C>T		CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"""Mitochondrial respiratory chain complex assembly factors"""	18025	protein-coding gene	gene with protein product		614772	"""chromosome 1 open reading frame 31"""	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945	ENST00000366613.1:c.34C>T	1.37:g.234509498C>T	ENSP00000355572:p.Arg12Cys					COA6_ENST00000366615.4_Intron|COA6_ENST00000366612.1_5'UTR	p.R12C	NM_001012985.2	NP_001013003.1					1	70	+								Q5JTJ2|Q5JTJ4|Q8TA88	Missense_Mutation	SNP	ENST00000366613.1	37	c.34C>T	CCDS31059.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.422758	0.25639	.	.	ENSG00000168275	ENST00000366613	.	.	.	2.79	1.86	0.25419	.	.	.	.	.	T	0.09905	0.0243	N	0.08118	0	0.26421	N	0.976103	D	0.56968	0.978	B	0.34346	0.18	T	0.11916	-1.0568	8	0.49607	T	0.09	.	7.7592	0.28942	0.0:0.7403:0.2597:0.0	.	12	Q5JTJ3	CA031_HUMAN	C	12	.	ENSP00000355572:R12C	R	+	1	0	C1orf31	232576121	0.002000	0.14202	0.039000	0.18376	0.011000	0.07611	0.271000	0.18626	0.737000	0.32582	-0.150000	0.13652	CGC		0.642	COA6-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092613.1	NM_001012985		24	35	0	0	0	1	0	24	35				
TRIM56	81844	broad.mit.edu	37	7	100732118	100732118	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr7:100732118C>T	ENST00000306085.6	+	3	1822	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	509					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCGGTCCCCCCGGATCACCGG	0.652																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1525-1527)Cgg>Tgg		tripartite motif containing 56							59.0	68.0	65.0					7																	100732118		2000	4160	6160	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732118C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1525C>T	7.37:g.100732118C>T	ENSP00000305161:p.Arg509Trp						p.R509W	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	1822	+	Lung NSC(181;0.136)|all_lung(186;0.182)		509					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1525C>T	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236774	0.39498	.	.	ENSG00000169871	ENST00000306085	T	0.51071	0.72	3.88	3.88	0.44766	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.40522	0.1120	N	0.19112	0.55	0.28043	N	0.933677	D	0.76494	0.999	P	0.50082	0.63	T	0.15578	-1.0432	9	0.37606	T	0.19	.	11.6346	0.51196	0.0:1.0:0.0:0.0	.	509	Q9BRZ2	TRI56_HUMAN	W	509	ENSP00000305161:R509W	ENSP00000305161:R509W	R	+	1	2	TRIM56	100518838	0.862000	0.29867	0.533000	0.28001	0.276000	0.26787	1.780000	0.38634	2.449000	0.82847	0.591000	0.81541	CGG		0.652	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		48	95	0	0	0	1	0	48	95				
USP48	84196	broad.mit.edu	37	1	22016507	22016507	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:22016507C>T	ENST00000308271.9	-	24	3617	c.2969G>A	c.(2968-2970)gGc>gAc	p.G990D	USP48_ENST00000374732.3_Missense_Mutation_p.G476D|USP48_ENST00000400301.1_Missense_Mutation_p.G938D|USP48_ENST00000529637.1_Missense_Mutation_p.G1002D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	990	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GCCAAGGGTGCCTAGGGTGGC	0.383																																						ENST00000308271.9																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2968-2970)gGc>gAc		ubiquitin specific peptidase 48							98.0	94.0	95.0					1																	22016507		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22016507C>T	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2969G>A	1.37:g.22016507C>T	ENSP00000309262:p.Gly990Asp					USP48_ENST00000529637.1_Missense_Mutation_p.G1002D|USP48_ENST00000400301.1_Missense_Mutation_p.G938D|USP48_ENST00000374732.3_Missense_Mutation_p.G476D	p.G990D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	24	3617	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	990			Ubiquitin-like.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.2969G>A	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270328	0.80469	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T;T	0.45276	0.9;0.91;0.9;0.91	5.61	5.61	0.85477	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.73598	2.24	0.80722	D	1	D;P;D;P;D;D	0.89917	1.0;0.73;1.0;0.952;0.958;1.0	D;B;D;P;P;D	0.97110	0.999;0.282;1.0;0.657;0.681;1.0	T	0.68205	-0.5470	10	0.62326	D	0.03	.	18.2065	0.89857	0.0:1.0:0.0:0.0	.	1002;990;115;938;990;476	B7ZKS7;B7ZKS3;Q86UV5-6;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;.;UBP48_HUMAN;.	D	938;990;476;1002	ENSP00000383157:G938D;ENSP00000309262:G990D;ENSP00000363864:G476D;ENSP00000431949:G1002D	ENSP00000309262:G990D	G	-	2	0	USP48	21889094	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.990000	0.76225	2.650000	0.89964	0.655000	0.94253	GGC		0.383	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		36	38	0	0	0	1	0	36	38				
GPR61	83873	broad.mit.edu	37	1	110085791	110085791	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:110085791G>A	ENST00000527748.1	+	2	830	c.147G>A	c.(145-147)atG>atA	p.M49I	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTTCTTCATGCTCCTGCTGG	0.602																																						ENST00000527748.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(145-147)atG>atA		G protein-coupled receptor 61							167.0	167.0	167.0					1																	110085791		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110085791G>A	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.147G>A	1.37:g.110085791G>A	ENSP00000432456:p.Met49Ile					RP5-1160K1.8_ENST00000526411.1_RNA	p.M49I	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	830	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	49					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.147G>A	CCDS801.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.371101	0.61624	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.36520	1.25	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	N	0.19112	0.55	0.50813	D	0.999894	D	0.69078	0.997	P	0.62740	0.906	T	0.26985	-1.0087	10	0.52906	T	0.07	-28.3678	17.1686	0.86822	0.0:0.0:1.0:0.0	.	49	Q9BZJ8	GPR61_HUMAN	I	49;177	ENSP00000432456:M49I	ENSP00000286603:M177I	M	+	3	0	GPR61	109887314	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.649000	0.98487	2.363000	0.80096	0.555000	0.69702	ATG		0.602	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			4	72	0	0	0	1	0	4	72				
ZNF720	124411	broad.mit.edu	37	16	31766535	31766535	+	Intron	SNP	A	A	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr16:31766535A>T	ENST00000316491.9	+	4	560				ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000399681.3_Missense_Mutation_p.Y308F	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						GAAAAACTTTACAAATGTAAA	0.358																																						ENST00000399681.3																			0				endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						c.(922-924)tAc>tTc		zinc finger protein 720																																				SO:0001627	intron_variant	124411				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:31766535A>T	AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.361+1314A>T	16.37:g.31766535A>T						ZNF720_ENST00000316491.9_Intron|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron	p.Y308F			Q7Z2F6	ZN720_HUMAN			6	1402	+			0					Q6ZQX1	Missense_Mutation	SNP	ENST00000316491.9	37	c.923A>T	CCDS45473.1	.	.	.	.	.	.	.	.	.	.	a	11.42	1.634016	0.29068	.	.	ENSG00000197302	ENST00000399681	T	0.18338	2.22	0.965	0.965	0.19661	.	.	.	.	.	T	0.29355	0.0731	.	.	.	0.09310	N	1	D;D	0.61697	0.99;0.982	D;P	0.65323	0.934;0.882	T	0.10245	-1.0638	8	0.59425	D	0.04	.	3.0636	0.06207	0.6068:0.0:0.0:0.3932	.	308;308	F5GYB6;B7Z5S2	.;.	F	308	ENSP00000440701:Y308F	ENSP00000440701:Y308F	Y	+	2	0	ZNF720	31674036	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	0.485000	0.22324	0.706000	0.31912	0.459000	0.35465	TAC		0.358	ZNF720-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394883.3	NM_001004300		3	6	0	0	0	1	0	3	6				
PLXNA4	91584	broad.mit.edu	37	7	131866888	131866888	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr7:131866888G>A	ENST00000359827.3	-	17	4182	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1074C			Q9HCM2	PLXA4_HUMAN	plexin A4	1074	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCTTGGCACGGATCTGGGGG	0.542																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3220-3222)Cgt>Tgt		plexin A4							135.0	140.0	139.0					7																	131866888		1981	4164	6145	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131866888G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3220C>T	7.37:g.131866888G>A	ENSP00000352882:p.Arg1074Cys					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1074C	p.R1074C			Q9HCM2	PLXA4_HUMAN			17	4182	-			1074			IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3220C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037389	0.75617	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.78364	-1.17;-1.17	5.43	4.55	0.56014	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.051192	0.64402	D	0.000001	D	0.88855	0.6550	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89049	0.3454	10	0.39692	T	0.17	.	13.459	0.61217	0.0:0.0:0.7161:0.2839	.	1074	Q9HCM2	PLXA4_HUMAN	C	1074	ENSP00000323194:R1074C;ENSP00000352882:R1074C	ENSP00000323194:R1074C	R	-	1	0	PLXNA4	131517428	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.231000	0.58639	1.287000	0.44583	0.561000	0.74099	CGT		0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		6	96	0	0	0	1	0	6	96				
MAP4	4134	broad.mit.edu	37	3	47957593	47957593	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:47957593T>C	ENST00000360240.6	-	7	2242	c.1724A>G	c.(1723-1725)gAt>gGt	p.D575G	MAP4_ENST00000395734.3_Missense_Mutation_p.D575G|MAP4_ENST00000426837.2_Missense_Mutation_p.D592G|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	575					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGTGGAACATCTTTGGCTGG	0.483																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(1774-1776)gAt>gGt		microtubule-associated protein 4							213.0	205.0	207.0					3																	47957593		2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47957593T>C		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1724A>G	3.37:g.47957593T>C	ENSP00000353375:p.Asp575Gly					MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Missense_Mutation_p.D575G|MAP4_ENST00000360240.6_Missense_Mutation_p.D575G	p.D592G			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	1862	-			575					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.1775A>G	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.706276	0.30232	.	.	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.15952	2.4;2.38;2.4	3.57	2.41	0.29592	.	.	.	.	.	T	0.29652	0.0740	M	0.75777	2.31	0.09310	N	1	D;P;P	0.65815	0.995;0.946;0.835	P;P;B	0.59703	0.862;0.453;0.363	T	0.12502	-1.0545	9	0.26408	T	0.33	-0.42	3.8109	0.08796	0.0:0.1163:0.221:0.6626	.	552;575;575	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	G	575;592;575	ENSP00000379083:D575G;ENSP00000407602:D592G;ENSP00000353375:D575G	ENSP00000353375:D575G	D	-	2	0	MAP4	47932597	0.001000	0.12720	0.011000	0.14972	0.893000	0.52053	0.763000	0.26517	0.741000	0.32674	0.460000	0.39030	GAT		0.483	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		72	116	0	0	0	1	0	72	116				
ST3GAL4	6484	broad.mit.edu	37	11	126283484	126283484	+	Missense_Mutation	SNP	G	G	A	rs550860098		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:126283484G>A	ENST00000526727.1	+	9	1230	c.856G>A	c.(856-858)Gcc>Acc	p.A286T	ST3GAL4_ENST00000532243.1_Missense_Mutation_p.A285T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.A282T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.A292T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.A282T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.A275T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.A286T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.A281T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.A286T|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.A286T			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	286					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CTACCCAGACGCCTACAACAA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		17251	0.0		0.0	False		,,,				2504	0.001					ENST00000526727.1																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(856-858)Gcc>Acc		ST3 beta-galactoside alpha-2,3-sialyltransferase 4							114.0	97.0	103.0					11																	126283484		2201	4297	6498	SO:0001583	missense	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126283484G>A	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.856G>A	11.37:g.126283484G>A	ENSP00000436047:p.Ala286Thr					ST3GAL4_ENST00000444328.2_Missense_Mutation_p.A286T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.A281T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.A286T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.A282T|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.A285T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.A282T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.A292T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.A275T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.A286T	p.A286T			Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	9	1230	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	286					A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	c.856G>A	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833146	0.32421	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457;ENST00000524860	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.33	2.18	0.27775	.	.	.	.	.	T	0.16041	0.0386	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.26360	-1.0105	9	0.19147	T	0.46	.	1.3262	0.02126	0.1911:0.1151:0.4217:0.2721	.	282;286	Q6IBE6;Q11206	.;SIA4C_HUMAN	T	282;286;292;282;286;286;286;275;285;281;122	ENSP00000227495:A282T;ENSP00000394354:A286T;ENSP00000348451:A292T;ENSP00000433989:A282T;ENSP00000433318:A286T;ENSP00000376437:A286T;ENSP00000436047:A286T;ENSP00000399444:A275T;ENSP00000434349:A285T;ENSP00000434668:A281T;ENSP00000431170:A122T	ENSP00000227495:A282T	A	+	1	0	ST3GAL4	125788694	0.977000	0.34250	0.579000	0.28588	0.910000	0.53928	1.865000	0.39479	0.641000	0.30601	0.455000	0.32223	GCC		0.592	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		20	23	0	0	0	1	0	20	23				
CTNNB1	1499	broad.mit.edu	37	3	41274830	41274830	+	Splice_Site	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:41274830A>G	ENST00000349496.5	+	8	1361		c.e8-1		CTNNB1_ENST00000396185.3_Splice_Site|CTNNB1_ENST00000405570.1_Splice_Site|CTNNB1_ENST00000396183.3_Splice_Site|CTNNB1_ENST00000453024.1_Splice_Site	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa						adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TTAATTTTCTAGGTGGAATGC	0.408		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.e8-1		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						79.0	70.0	73.0					3																	41274830		2203	4300	6503	SO:0001630	splice_region_variant	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41274830A>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1082-1A>G	3.37:g.41274830A>G						CTNNB1_ENST00000396183.3_Splice_Site|CTNNB1_ENST00000453024.1_Splice_Site|CTNNB1_ENST00000405570.1_Splice_Site|CTNNB1_ENST00000396185.3_Splice_Site		NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	8	1361	+								A8K1L7|Q8NEW9|Q8NI94|Q9H391	Splice_Site	SNP	ENST00000349496.5	37		CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.423374	0.62733	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9983	0.80268	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNNB1	41249834	1.000000	0.71417	0.920000	0.36463	0.796000	0.44982	9.339000	0.96797	2.171000	0.68590	0.533000	0.62120	.		0.408	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	Intron	8	54	0	0	0	1	0	8	54				
ACO2	50	broad.mit.edu	37	22	41919937	41919937	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr22:41919937T>C	ENST00000216254.4	+	12	1496	c.1474T>C	c.(1474-1476)Tcc>Ccc	p.S492P	ACO2_ENST00000396512.3_Missense_Mutation_p.S517P	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	492					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CTTTGTCACGTCCCCAGAGGT	0.617																																						ENST00000396512.3																			0				breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						c.(1549-1551)Tcc>Ccc		aconitase 2, mitochondrial							100.0	76.0	85.0					22																	41919937		2203	4300	6503	SO:0001583	missense	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41919937T>C	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.1474T>C	22.37:g.41919937T>C	ENSP00000216254:p.Ser492Pro					ACO2_ENST00000216254.4_Missense_Mutation_p.S492P	p.S517P			Q99798	ACON_HUMAN			12	1566	+			492	T -> K (in Ref. 1; AAB38416).				O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.1549T>C	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	T	33	5.278890	0.95489	.	.	ENSG00000100412	ENST00000541439;ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.64991	-0.13;-0.13	5.27	5.27	0.74061	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	D	0.89629	0.6770	H	0.99952	5.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.94620	0.7812	10	0.87932	D	0	.	15.4783	0.75504	0.0:0.0:0.0:1.0	.	517;492	A2A274;Q99798	.;ACON_HUMAN	P	213;473;492;517	ENSP00000216254:S492P;ENSP00000379769:S517P	ENSP00000216254:S492P	S	+	1	0	ACO2	40249883	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.658000	0.83755	2.124000	0.65301	0.482000	0.46254	TCC		0.617	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		13	12	0	0	0	1	0	13	12				
UHRF2	115426	broad.mit.edu	37	9	6499916	6499916	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr9:6499916A>G	ENST00000276893.5	+	13	2158	c.1990A>G	c.(1990-1992)Agg>Ggg	p.R664G	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	664					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AACCACAAAAAGGCCAATTTC	0.433																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(1990-1992)Agg>Ggg		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase							61.0	61.0	61.0					9																	6499916		2203	4300	6503	SO:0001583	missense	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6499916A>G	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.1990A>G	9.37:g.6499916A>G	ENSP00000276893:p.Arg664Gly					UHRF2_ENST00000485617.2_3'UTR	p.R664G	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	13	2158	+		Acute lymphoblastic leukemia(23;0.158)	664					Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	c.1990A>G	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	A	7.169	0.587209	0.13812	.	.	ENSG00000147854	ENST00000276893	D	0.86562	-2.14	5.67	-0.0222	0.13948	.	0.272209	0.42420	D	0.000713	D	0.84115	0.5401	M	0.69358	2.11	0.80722	D	1	P	0.35383	0.498	B	0.37239	0.244	T	0.78465	-0.2193	10	0.30078	T	0.28	-11.9807	13.1151	0.59295	0.4466:0.5534:0.0:0.0	.	664	Q96PU4	UHRF2_HUMAN	G	664	ENSP00000276893:R664G	ENSP00000276893:R664G	R	+	1	2	UHRF2	6489916	1.000000	0.71417	0.975000	0.42487	0.012000	0.07955	1.361000	0.34136	0.111000	0.17947	-0.321000	0.08615	AGG		0.433	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		7	10	0	0	0	1	0	7	10				
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCTTCGTAAAGTGGATGATT	0.423																																						ENST00000436258.1																			0																																																			0							g.chr7:35131480A>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131480A>T														0	1889	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.423	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			4	60	0	0	0	1	0	4	60				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	25	0	0	0	1	0	27	25				
DHCR7	1717	broad.mit.edu	37	11	71152482	71152482	+	Silent	SNP	A	A	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:71152482A>C	ENST00000355527.3	-	6	693	c.417T>G	c.(415-417)gtT>gtG	p.V139V	DHCR7_ENST00000407721.2_Silent_p.V139V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	139					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						ACTTGTTCACAACCCCTGCAG	0.572									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(415-417)gtT>gtG		7-dehydrocholesterol reductase	NADH(DB00157)						114.0	93.0	100.0					11																	71152482		2200	4294	6494	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71152482A>C	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.417T>G	11.37:g.71152482A>C						DHCR7_ENST00000407721.2_Silent_p.V139V	p.V139V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			6	693	-			139					B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.417T>G	CCDS8200.1																																																																																				0.572	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		3	7	0	0	0	1	0	3	7				
NOP58	51602	broad.mit.edu	37	2	203165048	203165048	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr2:203165048A>G	ENST00000264279.5	+	13	1586	c.1360A>G	c.(1360-1362)Att>Gtt	p.I454V		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	454	Lys-rich.				cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AGAGGATGAAATTACTGAAAA	0.333																																						ENST00000264279.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						c.(1360-1362)Att>Gtt		NOP58 ribonucleoprotein							83.0	87.0	85.0					2																	203165048		2203	4299	6502	SO:0001583	missense	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203165048A>G		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.1360A>G	2.37:g.203165048A>G	ENSP00000264279:p.Ile454Val						p.I454V	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN			13	1586	+			454			Lys-rich.		Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	c.1360A>G	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	A	4.499	0.092487	0.08632	.	.	ENSG00000055044	ENST00000264279	T	0.59638	0.25	6.04	-8.85	0.00799	.	1.192850	0.05784	N	0.609236	T	0.32315	0.0825	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25916	-1.0118	10	0.30078	T	0.28	-23.3421	12.8112	0.57641	0.1159:0.2364:0.6477:0.0	.	454	Q9Y2X3	NOP58_HUMAN	V	454	ENSP00000264279:I454V	ENSP00000264279:I454V	I	+	1	0	NOP58	202873293	0.003000	0.15002	0.000000	0.03702	0.099000	0.18886	0.175000	0.16762	-1.034000	0.03295	-0.468000	0.05107	ATT		0.333	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		9	89	0	0	0	1	0	9	89				
ANKRD46	157567	broad.mit.edu	37	8	101542045	101542045	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr8:101542045A>G	ENST00000520552.1	-	3	178	c.17T>C	c.(16-18)gTa>gCa	p.V6A	ANKRD46_ENST00000335659.3_Missense_Mutation_p.V6A|ANKRD46_ENST00000519316.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000520311.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000519597.1_Missense_Mutation_p.V6A	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	6						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AGAATCATTTACAAAAACATA	0.408																																						ENST00000520311.1																			0				kidney(1)|large_intestine(2)|lung(4)	7						c.(16-18)gTa>gCa		ankyrin repeat domain 46							49.0	47.0	48.0					8																	101542045		2203	4300	6503	SO:0001583	missense	157567					integral to membrane		g.chr8:101542045A>G	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"""Ankyrin repeat domain containing"""	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.17T>C	8.37:g.101542045A>G	ENSP00000429015:p.Val6Ala					ANKRD46_ENST00000519597.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000519316.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000335659.3_Missense_Mutation_p.V6A|ANKRD46_ENST00000520552.1_Missense_Mutation_p.V6A	p.V6A	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		3	820	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		6					Q6P9B7	Missense_Mutation	SNP	ENST00000520552.1	37	c.17T>C	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158274	0.78114	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072;ENST00000523000;ENST00000521345	T;T;T;T;T;T;T;T;T	0.58797	0.8;0.86;0.86;0.86;1.05;0.85;0.46;0.31;1.32	5.78	5.78	0.91487	.	0.057287	0.64402	D	0.000001	T	0.50309	0.1608	L	0.41492	1.28	0.52099	D	0.999943	B;B	0.29766	0.02;0.256	B;B	0.26310	0.008;0.068	T	0.49173	-0.8967	10	0.46703	T	0.11	-8.0083	16.1138	0.81283	1.0:0.0:0.0:0.0	.	6;6	Q86W74-2;Q86W74	.;ANR46_HUMAN	A	6	ENSP00000429015:V6A;ENSP00000335287:V6A;ENSP00000430056:V6A;ENSP00000428388:V6A;ENSP00000430827:V6A;ENSP00000351881:V6A;ENSP00000430357:V6A;ENSP00000430800:V6A;ENSP00000429647:V6A	ENSP00000335287:V6A	V	-	2	0	ANKRD46	101611221	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.744000	0.91596	2.220000	0.72140	0.533000	0.62120	GTA		0.408	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401		4	64	0	0	0	1	0	4	64				
ATRX	546	broad.mit.edu	37	X	76938029	76938029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chrX:76938029G>A	ENST00000373344.5	-	9	2933	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)|p.R907*(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						TTAGGAAGTCGATCTCTTAAT	0.418			"""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"""		2	Substitution - Nonsense(1)|Unknown(1)	p.?(1)|p.R907*(1)	lung(1)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2719-2721)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						189.0	173.0	179.0					X																	76938029		2203	4296	6499	SO:0001587	stop_gained	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:76938029G>A	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.2719C>T	X.37:g.76938029G>A	ENSP00000362441:p.Arg907*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869*	p.R907*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2933	-			907					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2719C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.819821	0.98507	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.79	0.503	0.16940	.	2.134250	0.02681	N	0.109696	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	10.841	4.5137	0.11924	0.0688:0.1999:0.2703:0.461	.	.	.	.	X	907;869;834	.	ENSP00000362441:R907X	R	-	1	2	ATRX	76824685	0.000000	0.05858	0.000000	0.03702	0.502000	0.33828	-0.689000	0.05144	-0.111000	0.12001	0.513000	0.50165	CGA		0.418	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		139	28	0	0	0	1	0	139	28				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	220	0	0	0	1	0	4	220				
NEK5	341676	broad.mit.edu	37	13	52676316	52676316	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr13:52676316T>G	ENST00000355568.4	-	10	861	c.722A>C	c.(721-723)cAa>cCa	p.Q241P		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AGGAGATACTTGAAAGAGCTG	0.413																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(721-723)cAa>cCa		NIMA-related kinase 5							154.0	172.0	166.0					13																	52676316		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52676316T>G	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.722A>C	13.37:g.52676316T>G	ENSP00000347767:p.Gln241Pro						p.Q241P	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	10	861	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	241			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.722A>C	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	T	6.573	0.474082	0.12521	.	.	ENSG00000197168	ENST00000355568	T	0.66638	-0.22	5.64	0.48	0.16804	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.390052	0.26213	N	0.025676	T	0.65688	0.2715	M	0.90425	3.115	0.19945	N	0.999948	B	0.19935	0.04	B	0.14023	0.01	T	0.60388	-0.7273	10	0.52906	T	0.07	.	5.0421	0.14463	0.1241:0.2099:0.0:0.666	.	241	Q6P3R8	NEK5_HUMAN	P	241	ENSP00000347767:Q241P	ENSP00000347767:Q241P	Q	-	2	0	NEK5	51574317	0.970000	0.33590	0.003000	0.11579	0.004000	0.04260	1.091000	0.30915	-0.114000	0.11936	-0.433000	0.05886	CAA		0.413	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		20	252	0	0	0	1	0	20	252				
ARFGEF2	10564	broad.mit.edu	37	20	47648590	47648590	+	Missense_Mutation	SNP	T	T	C	rs148821408	byFrequency	TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:47648590T>C	ENST00000371917.4	+	38	5068	c.5068T>C	c.(5068-5070)Tgc>Cgc	p.C1690R		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1690					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTCTAGTGTTTGCAGTGAAGC	0.383																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(5068-5070)Tgc>Cgc		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							186.0	205.0	199.0					20																	47648590		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47648590T>C	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.5068T>C	20.37:g.47648590T>C	ENSP00000360985:p.Cys1690Arg						p.C1690R	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		38	5068	+			1690					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.5068T>C	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878854	0.91740	.	.	ENSG00000124198	ENST00000371917	T	0.63744	-0.06	5.93	5.93	0.95920	Armadillo-type fold (1);	0.043215	0.85682	D	0.000000	T	0.74390	0.3710	M	0.84082	2.675	0.80722	D	1	P	0.52692	0.955	P	0.50231	0.635	T	0.79274	-0.1871	10	0.72032	D	0.01	.	16.3766	0.83401	0.0:0.0:0.0:1.0	.	1690	Q9Y6D5	BIG2_HUMAN	R	1690	ENSP00000360985:C1690R	ENSP00000360985:C1690R	C	+	1	0	ARFGEF2	47081997	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.708000	0.84633	2.263000	0.75096	0.533000	0.62120	TGC		0.383	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		28	258	0	0	0	1	0	28	258				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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"""		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(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	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578212G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	p.R213*	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	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	7	0	0	0	1	0	21	7				
ZDBF2	57683	broad.mit.edu	37	2	207173877	207173877	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr2:207173877A>G	ENST00000374423.3	+	5	5011	c.4625A>G	c.(4624-4626)gAt>gGt	p.D1542G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1542							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTAATTTCAGATGATATTCCC	0.398																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4624-4626)gAt>gGt		zinc finger, DBF-type containing 2							56.0	58.0	58.0					2																	207173877		1866	4095	5961	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173877A>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4625A>G	2.37:g.207173877A>G	ENSP00000363545:p.Asp1542Gly						p.D1542G	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	5011	+			1542					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.4625A>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298188	0.23650	.	.	ENSG00000204186	ENST00000374423	T	0.66460	-0.21	4.01	1.57	0.23409	.	.	.	.	.	T	0.63283	0.2498	L	0.48642	1.525	0.09310	N	1	D	0.56968	0.978	P	0.53224	0.721	T	0.51276	-0.8726	9	0.38643	T	0.18	.	3.3068	0.07002	0.6875:0.0:0.1104:0.2021	.	1542	Q9HCK1	ZDBF2_HUMAN	G	1542	ENSP00000363545:D1542G	ENSP00000363545:D1542G	D	+	2	0	ZDBF2	206882122	0.876000	0.30132	0.246000	0.24233	0.031000	0.12232	0.854000	0.27791	0.338000	0.23692	-0.353000	0.07706	GAT		0.398	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		6	13	0	0	0	1	0	6	13				
AGAP7P	653268	broad.mit.edu	37	10	51465603	51465603	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr10:51465603A>C	ENST00000374095.5	-	7	978	c.853T>G	c.(853-855)Tgt>Ggt	p.C285G		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		285	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CCATTGGAACACAGGGTGACG	0.433																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(853-855)Tgt>Ggt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7							39.0	42.0	41.0					10																	51465603		2170	4262	6432	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465603A>C																												ENST00000374095.5:c.853T>G	10.37:g.51465603A>C	ENSP00000363208:p.Cys285Gly						p.C285G	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	978	-			285			PH.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.853T>G	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	4.731	0.136019	0.09032	.	.	ENSG00000204169	ENST00000374095	T	0.17213	2.29	.	.	.	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.051306	0.85682	D	0.000000	T	0.17874	0.0429	M	0.75447	2.3	0.32967	D	0.521761	B	0.02656	0.0	B	0.04013	0.001	T	0.07578	-1.0765	8	0.46703	T	0.11	.	.	.	.	.	285	Q5VUJ5	AGAP7_HUMAN	G	285	ENSP00000363208:C285G	ENSP00000363208:C285G	C	-	1	0	AGAP7	51135609	0.877000	0.30153	0.013000	0.15412	0.013000	0.08279	3.310000	0.51911	0.149000	0.19098	0.147000	0.16070	TGT		0.433	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			28	325	0	0	0	1	0	28	325				
SETD5	55209	broad.mit.edu	37	3	9476055	9476055	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:9476055C>T	ENST00000406341.1	+	4	405	c.215C>T	c.(214-216)tCg>tTg	p.S72L	SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.S91L|SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.S72L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	72										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGCCTGCCGTCGCCTGTAGAG	0.552																																						ENST00000402198.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(214-216)tCg>tTg		SET domain containing 5							89.0	95.0	93.0					3																	9476055		1988	4156	6144	SO:0001583	missense	55209							g.chr3:9476055C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.215C>T	3.37:g.9476055C>T	ENSP00000383939:p.Ser72Leu					SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000406341.1_Missense_Mutation_p.S72L|SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.S91L	p.S72L	NM_001080517.1	NP_001073986.1	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	5	650	+	Medulloblastoma(99;0.227)		72					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.215C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413386	0.42817	.	.	ENSG00000168137	ENST00000450326;ENST00000402198;ENST00000406341;ENST00000407969	T;D;D;D	0.90900	1.49;-2.75;-2.75;-2.68	5.98	5.11	0.69529	.	.	.	.	.	D	0.86104	0.5853	L	0.36672	1.1	0.80722	D	1	B;B	0.17667	0.013;0.023	B;B	0.10450	0.002;0.005	T	0.81387	-0.0956	9	0.44086	T	0.13	0.1709	14.3106	0.66413	0.0:0.9285:0.0:0.0715	.	72;91	Q9C0A6;E7EWN3	SETD5_HUMAN;.	L	72;72;72;91	ENSP00000413786:S72L;ENSP00000385852:S72L;ENSP00000383939:S72L;ENSP00000384114:S91L	ENSP00000385852:S72L	S	+	2	0	SETD5	9451055	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.585000	0.60977	2.838000	0.97847	0.591000	0.81541	TCG		0.552	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		4	41	0	0	0	1	0	4	41				
PHKA2	5256	broad.mit.edu	37	X	18913286	18913286	+	Silent	SNP	A	A	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chrX:18913286A>T	ENST00000379942.4	-	31	3971	c.3306T>A	c.(3304-3306)ggT>ggA	p.G1102G	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1102					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGAGGACATAACCATCGATGG	0.537																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(3304-3306)ggT>ggA		phosphorylase kinase, alpha 2 (liver)							186.0	147.0	161.0					X																	18913286		2203	4300	6503	SO:0001819	synonymous_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18913286A>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3306T>A	X.37:g.18913286A>T						PHKA2_ENST00000481718.1_5'UTR	p.G1102G	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			31	3971	-	Hepatocellular(33;0.183)		1102					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	c.3306T>A	CCDS14190.1																																																																																				0.537	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		19	45	0	0	0	1	0	19	45				
STPG1	90529	broad.mit.edu	37	1	24696194	24696194	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:24696194C>A	ENST00000374409.1	-	7	961	c.707G>T	c.(706-708)tGc>tTc	p.C236F	STPG1_ENST00000003583.8_Missense_Mutation_p.C189F|STPG1_ENST00000440416.1_Missense_Mutation_p.C189F|STPG1_ENST00000337248.4_Missense_Mutation_p.C236F|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	236					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AACTTTTGTGCAATCACTGGG	0.418																																						ENST00000374409.1																			0											c.(706-708)tGc>tTc		sperm-tail PG-rich repeat containing 1							129.0	129.0	129.0					1																	24696194		2203	4300	6503	SO:0001583	missense	90529							g.chr1:24696194C>A	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.707G>T	1.37:g.24696194C>A	ENSP00000363530:p.Cys236Phe					STPG1_ENST00000337248.4_Missense_Mutation_p.C236F|STPG1_ENST00000003583.8_Missense_Mutation_p.C189F|STPG1_ENST00000440416.1_Missense_Mutation_p.C189F|STPG1_ENST00000468303.1_5'UTR	p.C236F	NM_001199012.1	NP_001185941.1					7	961	-								Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	c.707G>T	CCDS55581.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756651	0.31137	.	.	ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986;ENST00000438866;ENST00000374404	.	.	.	5.92	-5.68	0.02436	.	0.671911	0.14380	N	0.323171	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	P;B;B	0.46457	0.878;0.11;0.08	P;B;B	0.47786	0.557;0.113;0.069	T	0.29119	-1.0022	9	0.36615	T	0.2	-14.1726	7.79	0.29114	0.0:0.3434:0.4589:0.1977	.	203;236;189	B4DRS3;Q5TH74;Q5TH74-3	.;CA201_HUMAN;.	F	236;189;189;236;203;139;140	.	ENSP00000003583:C189F	C	-	2	0	C1orf201	24568781	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.588000	0.05774	-0.319000	0.08652	-0.176000	0.13171	TGC		0.418	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		6	86	1	0	0.000157383	1	0.000161222	6	86				
PDE10A	10846	broad.mit.edu	37	6	165863791	165863791	+	Silent	SNP	C	C	G	rs144686330		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr6:165863791C>G	ENST00000366882.1	-	5	409	c.255G>C	c.(253-255)cgG>cgC	p.R85R	PDE10A_ENST00000539869.2_Silent_p.R95R|PDE10A_ENST00000354448.4_Silent_p.R85R			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	85					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.R85R(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CTGTGTCCAACCGTTGTTCTA	0.348																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			1	Substitution - coding silent(1)	p.R85R(1)	skin(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(253-255)cgG>cgC		phosphodiesterase 10A	Dipyridamole(DB00975)						177.0	160.0	166.0					6																	165863791		2203	4300	6503	SO:0001819	synonymous_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165863791C>G	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.255G>C	6.37:g.165863791C>G						PDE10A_ENST00000354448.4_Silent_p.R85R|PDE10A_ENST00000539869.2_Silent_p.R95R	p.R85R			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	5	409	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	85					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37	c.255G>C																																																																																					0.348	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			61	91	0	0	0	1	0	61	91				
ZNF831	128611	broad.mit.edu	37	20	57829214	57829214	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:57829214C>A	ENST00000371030.2	+	5	4450	c.4450C>A	c.(4450-4452)Cat>Aat	p.H1484N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1484							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTTTCCCCACCATGACATTGC	0.493																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(4450-4452)Cat>Aat		zinc finger protein 831							84.0	87.0	86.0					20																	57829214		2013	4192	6205	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829214C>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4450C>A	20.37:g.57829214C>A	ENSP00000360069:p.His1484Asn						p.H1484N	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			5	4450	+	all_lung(29;0.0085)		1484					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4450C>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497859	0.26861	.	.	ENSG00000124203	ENST00000371030	T	0.05025	3.51	5.9	1.65	0.23941	.	0.853808	0.10361	N	0.684009	T	0.06508	0.0167	L	0.50333	1.59	0.09310	N	1	B	0.27351	0.176	B	0.19391	0.025	T	0.36311	-0.9753	10	0.59425	D	0.04	-0.3182	4.6394	0.12541	0.147:0.4908:0.2842:0.0781	.	1484	Q5JPB2	ZN831_HUMAN	N	1484	ENSP00000360069:H1484N	ENSP00000360069:H1484N	H	+	1	0	ZNF831	57262609	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.052000	0.14163	0.077000	0.16863	0.650000	0.86243	CAT		0.493	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		4	96	1	0	0.00909568	1	0.00909568	4	96				
MIA3	375056	broad.mit.edu	37	1	222827800	222827800	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:222827800T>C	ENST00000344922.5	+	17	4472	c.4447T>C	c.(4447-4449)Tcc>Ccc	p.S1483P	MIA3_ENST00000340535.7_Missense_Mutation_p.S361P|MIA3_ENST00000344441.6_Missense_Mutation_p.S1483P|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1483					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCCTCCGTGTCCACTAAATG	0.373																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(4447-4449)Tcc>Ccc		melanoma inhibitory activity family, member 3							97.0	86.0	89.0					1																	222827800		1834	4094	5928	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222827800T>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4447T>C	1.37:g.222827800T>C	ENSP00000340900:p.Ser1483Pro					MIA3_ENST00000340535.7_Missense_Mutation_p.S361P|MIA3_ENST00000344441.6_Missense_Mutation_p.S1483P|MIA3_ENST00000344507.1_Intron	p.S1483P	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	17	4472	+			1483					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4447T>C	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.25|16.25	3.070599|3.070599	0.55539|0.55539	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471|ENST00000354906	T;T;T|T	0.45668|0.19250	1.46;1.46;0.89|2.16	5.97|5.97	4.75|4.75	0.60458|0.60458	.|.	.|.	.|.	.|.	.|.	T|T	0.27900|0.27900	0.0687|0.0687	L|L	0.54323|0.54323	1.7|1.7	0.27260|0.27260	N|N	0.95866|0.95866	D;D;D|.	0.89917|.	1.0;0.995;0.999|.	D;D;D|.	0.74674|.	0.984;0.951;0.949|.	T|T	0.09185|0.09185	-1.0686|-1.0686	9|7	0.49607|0.38643	T|T	0.09|0.18	.|.	9.6628|9.6628	0.39965|0.39965	0.163:0.0:0.0988:0.7382|0.163:0.0:0.0988:0.7382	.|.	1424;361;1483|.	Q5JRA6-2;Q5JRA6-4;Q5JRA6|.	.;.;MIA3_HUMAN|.	P|A	1483;1483;1424;361;361|1006	ENSP00000340900:S1483P;ENSP00000340587:S1483P;ENSP00000345866:S361P|ENSP00000355062:V1006A	ENSP00000284471:S361P|ENSP00000355062:V1006A	S|V	+|+	1|2	0|0	MIA3|MIA3	220894423|220894423	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.680000|0.680000	0.39746|0.39746	0.475000|0.475000	0.22164|0.22164	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.373	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		16	34	0	0	0	1	0	16	34				
CTSW	1521	broad.mit.edu	37	11	65650804	65650804	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:65650804A>C	ENST00000307886.3	+	9	975	c.929A>C	c.(928-930)gAg>gCg	p.E310A	CTSW_ENST00000528419.1_Missense_Mutation_p.E310A|FIBP_ENST00000426652.2_5'Flank	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	310					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		ATATGGGCAGAGACAGTCTCA	0.597																																						ENST00000528419.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(928-930)gAg>gCg		cathepsin W							115.0	110.0	112.0					11																	65650804		2201	4296	6497	SO:0001583	missense	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65650804A>C	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.929A>C	11.37:g.65650804A>C	ENSP00000311300:p.Glu310Ala					CTSW_ENST00000307886.3_Missense_Mutation_p.E310A	p.E310A			P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	9	933	+			310					Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	c.929A>C	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	A	5.056	0.196086	0.09599	.	.	ENSG00000172543	ENST00000307886;ENST00000528419	T;T	0.74106	-0.81;-0.56	4.99	-3.53	0.04667	Peptidase C1A, papain C-terminal (2);	56.025700	0.00166	N	0.000000	T	0.55146	0.1902	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.17098	0.007;0.017	T	0.46219	-0.9207	10	0.17369	T	0.5	.	11.9998	0.53224	0.392:0.0:0.608:0.0	.	310;310	P56202;E9PI30	CATW_HUMAN;.	A	310	ENSP00000311300:E310A;ENSP00000436568:E310A	ENSP00000311300:E310A	E	+	2	0	CTSW	65407380	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.280000	0.08468	-0.567000	0.06046	0.402000	0.26972	GAG		0.597	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		34	57	0	0	0	1	0	34	57				
BZRAP1	9256	broad.mit.edu	37	17	56395723	56395723	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:56395723G>A	ENST00000343736.4	-	14	1953	c.1790C>T	c.(1789-1791)aCa>aTa	p.T597I	BZRAP1_ENST00000355701.3_Missense_Mutation_p.T597I|BZRAP1_ENST00000268893.6_Missense_Mutation_p.T537I			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	597						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTCTTGGCTGTCCTTCGAGG	0.617																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1789-1791)aCa>aTa		benzodiazapine receptor (peripheral) associated protein 1							134.0	119.0	124.0					17																	56395723		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56395723G>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1790C>T	17.37:g.56395723G>A	ENSP00000345824:p.Thr597Ile					BZRAP1_ENST00000268893.6_Missense_Mutation_p.T537I|BZRAP1_ENST00000343736.4_Missense_Mutation_p.T597I	p.T597I	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			14	2660	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		597					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.1790C>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490303	0.44249	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.88124	-2.34;-2.34;-2.34	4.89	2.92	0.33932	.	1.421050	0.03919	N	0.283167	T	0.79534	0.4462	N	0.08118	0	0.09310	N	1	B;P;B	0.47604	0.112;0.898;0.016	B;P;B	0.48270	0.039;0.572;0.026	T	0.70517	-0.4850	10	0.36615	T	0.2	.	4.3695	0.11241	0.1797:0.0:0.5463:0.274	.	597;537;597	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	I	597;597;537	ENSP00000347929:T597I;ENSP00000345824:T597I;ENSP00000268893:T537I	ENSP00000268893:T537I	T	-	2	0	BZRAP1	53750722	0.248000	0.23930	0.069000	0.20011	0.803000	0.45373	2.025000	0.41059	0.672000	0.31204	-0.379000	0.06801	ACA		0.617	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		3	43	0	0	0	1	0	3	43				
