#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
COL16A1	1307	broad.mit.edu	37	1	32164172	32164172	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:32164172G>A	ENST00000373672.3	-	5	818	c.302C>T	c.(301-303)gCc>gTc	p.A101V	COL16A1_ENST00000373668.3_Missense_Mutation_p.A101V|COL16A1_ENST00000271069.6_Missense_Mutation_p.A101V	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	101	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAGCACCAGGGCAAACTCCTC	0.567																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(301-303)gCc>gTc		Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.							94.0	96.0	95.0					1																	32164172		1981	4155	6136	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32164172G>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.302C>T	1.37:g.32164172G>A	ENSP00000362776:p.Ala101Val					COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.4_Missense_Mutation_p.A101V	p.A101V	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	4	667	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	101			TSP N-terminal.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.302C>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961936	0.74016	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.14022	2.54;2.54;2.54	4.69	4.69	0.59074	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.204894	0.41294	D	0.000917	T	0.09905	0.0243	N	0.14661	0.345	0.39075	D	0.960797	P;P	0.46987	0.7;0.888	B;B	0.39465	0.093;0.3	T	0.14783	-1.0460	10	0.72032	D	0.01	.	16.9076	0.86132	0.0:0.0:1.0:0.0	.	101;101	A6NCT7;Q07092	.;COGA1_HUMAN	V	101	ENSP00000362776:A101V;ENSP00000271069:A101V;ENSP00000362772:A101V	ENSP00000271069:A101V	A	-	2	0	COL16A1	31936759	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.022000	0.49659	2.596000	0.87737	0.555000	0.69702	GCC		0.567	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	
KLF17	128209	broad.mit.edu	37	1	44595136	44595136	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:44595136G>A	ENST00000372299.3	+	2	251	c.193G>A	c.(193-195)Gca>Aca	p.A65T	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	65					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TCCTCACAGCGCAGAGATGCT	0.557																																						uc001clp.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(193-195)Gca>Aca		Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.							80.0	70.0	73.0					1																	44595136		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595136G>A	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.193G>A	1.37:g.44595136G>A	ENSP00000361373:p.Ala65Thr					KLF17_uc009vxf.1_Missense_Mutation_p.A28T	p.A65T	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			1	251	+	Acute lymphoblastic leukemia(166;0.155)		65					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.193G>A	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	0.674	-0.800940	0.02841	.	.	ENSG00000171872	ENST00000372299	T	0.09350	2.99	4.21	-5.22	0.02806	.	1.168800	0.06311	N	0.702617	T	0.02193	0.0068	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37526	-0.9702	10	0.02654	T	1	.	2.4897	0.04607	0.2338:0.4303:0.0851:0.2507	.	65	Q5JT82	KLF17_HUMAN	T	65	ENSP00000361373:A65T	ENSP00000361373:A65T	A	+	1	0	KLF17	44367723	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.760000	0.04756	-0.998000	0.03446	-1.312000	0.01307	GCA		0.557	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484	
FLG2	388698	broad.mit.edu	37	1	152324215	152324215	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:152324215G>A	ENST00000388718.5	-	3	6119	c.6047C>T	c.(6046-6048)aCa>aTa	p.T2016I	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2016					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTCTGTGTGGACTGTCC	0.522																																						uc001ezw.4																			0		p.S2015T(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6046-6048)aCa>aTa		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							389.0	361.0	370.0					1																	152324215		2201	4300	6501	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324215G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6047C>T	1.37:g.152324215G>A	ENSP00000373370:p.Thr2016Ile					AK056431_uc001ezv.3_Intron	p.T2016I	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6120	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2016					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6047C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249098	0.22880	.	.	ENSG00000143520	ENST00000388718	T	0.36157	1.27	3.9	1.9	0.25705	.	.	.	.	.	T	0.25158	0.0611	L	0.60455	1.87	0.09310	N	1	D	0.54964	0.969	P	0.50352	0.638	T	0.03807	-1.1002	9	0.49607	T	0.09	.	8.7741	0.34751	0.0:0.0:0.5901:0.4099	.	2016	Q5D862	FILA2_HUMAN	I	2016	ENSP00000373370:T2016I	ENSP00000373370:T2016I	T	-	2	0	FLG2	150590839	0.005000	0.15991	0.000000	0.03702	0.026000	0.11368	1.645000	0.37238	0.576000	0.29452	0.297000	0.19635	ACA		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
SPTA1	6708	broad.mit.edu	37	1	158585037	158585037	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:158585037G>A	ENST00000368147.4	-	48	6937	c.6757C>T	c.(6757-6759)Caa>Taa	p.Q2253*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2253					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGTTGTGTTGCATCCGCAAC	0.537																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6757-6759)Caa>Taa		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							140.0	148.0	145.0					1																	158585037		2132	4252	6384	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158585037G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6757C>T	1.37:g.158585037G>A	ENSP00000357129:p.Gln2253*						p.Q2253*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			47	6956	-	all_hematologic(112;0.0378)		2253					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.6757C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	48	14.777839	0.99809	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.54	5.54	0.83059	.	0.000000	0.30911	N	0.008626	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.234	0.89944	0.0:0.0:1.0:0.0	.	.	.	.	X	2253;2250	.	ENSP00000357129:Q2250X	Q	-	1	0	SPTA1	156851661	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	8.991000	0.93514	2.884000	0.98904	0.655000	0.94253	CAA		0.537	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
TNFSF4	7292	broad.mit.edu	37	1	173155865	173155865	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:173155865G>A	ENST00000281834.3	-	3	478	c.342C>T	c.(340-342)aaC>aaT	p.N114N	TNFSF4_ENST00000488053.1_5'Flank|TNFSF4_ENST00000367718.1_Silent_p.N64N	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	114					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						GAAGGCTAATGTTGACTTCCT	0.468																																						uc001giw.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						c.(340-342)aaC>aaT		Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.							101.0	104.0	103.0					1																	173155865		2203	4300	6503	SO:0001819	synonymous_variant	7292				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	g.chr1:173155865G>A	D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11934	protein-coding gene	gene with protein product		603594	"""tax-transcriptionally activated glycoprotein 1, 34kD"""	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.342C>T	1.37:g.173155865G>A						TNFSF4_uc001giv.3_Silent_p.N64N	p.N114N	NM_003326	NP_003317	P23510	TNFL4_HUMAN			2	498	-			114					Q5JZA5|Q8IV74|Q9HCN9	Silent	SNP	ENST00000281834.3	37	c.342C>T	CCDS1306.1																																																																																				0.468	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1		
IGFN1	91156	broad.mit.edu	37	1	201191952	201191952	+	Missense_Mutation	SNP	T	T	G	rs146807711		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:201191952T>G	ENST00000335211.4	+	20	10417	c.10287T>G	c.(10285-10287)ttT>ttG	p.F3429L	IGFN1_ENST00000295591.8_Missense_Mutation_p.F589L|RP11-567E21.3_ENST00000453155.1_RNA	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	972						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGTCTCCTTTGAAGTGAGTG	0.572											OREG0014073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gwc.3																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10285-10287)ttT>ttG		Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.							84.0	68.0	73.0					1																	201191952		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201191952T>G	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10287T>G	1.37:g.201191952T>G	ENSP00000334714:p.Phe3429Leu		OREG0014073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2119	IGFN1_uc001gwb.3_Non-coding_Transcript	p.F3429L	NM_001164586	NP_001158058					19	10417	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.10287T>G	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.3|27.3	4.822899|4.822899	0.90873|0.90873	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211;ENST00000295591|ENST00000412892	T;T|.	0.65732|.	-0.17;0.69|.	4.03|4.03	-3.0|-3.0	0.05480|0.05480	.|.	0.160686|.	0.42420|.	D|.	0.000715|.	T|.	0.53626|.	0.1808|.	L|L	0.50993|0.50993	1.605|1.605	0.52099|0.52099	D|D	0.999947|0.999947	P|.	0.48089|.	0.905|.	D|.	0.64410|.	0.925|.	T|.	0.49194|.	-0.8965|.	10|.	0.72032|.	D|.	0.01|.	.|.	9.3183|9.3183	0.37948|0.37948	0.0:0.4124:0.0:0.5876|0.0:0.4124:0.0:0.5876	.|.	3429|.	F8WAI1|.	.|.	L|G	3429;589|847	ENSP00000334714:F3429L;ENSP00000295591:F589L|.	ENSP00000295591:F589L|.	F|X	+|+	3|1	2|0	IGFN1|IGFN1	199458575|199458575	1.000000|1.000000	0.71417|0.71417	0.359000|0.359000	0.25824|0.25824	0.509000|0.509000	0.34042|0.34042	0.897000|0.897000	0.28390|0.28390	-0.879000|-0.879000	0.04002|0.04002	-0.441000|-0.441000	0.05720|0.05720	TTT|TGA		0.572	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
LIN9	286826	broad.mit.edu	37	1	226420896	226420896	+	Splice_Site	SNP	T	T	C			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:226420896T>C	ENST00000328205.5	-	14	2019		c.e14-2		LIN9_ENST00000481685.1_Splice_Site|LIN9_ENST00000366801.1_Splice_Site	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component						DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TGCTAGACACTAAAGGGAAAA	0.294																																					Ovarian(197;1696 2974 11248 14117)	uc001hqa.2																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.e14-1		Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.							59.0	66.0	64.0					1																	226420896		2198	4296	6494	SO:0001630	splice_region_variant	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226420896T>C	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1474-2A>G	1.37:g.226420896T>C						LIN9_uc001hqb.2_Splice_Site_p.C457_splice|LIN9_uc001hqc.3_Splice_Site_p.C424_splice|LIN9_uc009xel.1_Intron	p.C492_splice	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	14	1784	-	Breast(184;0.158)		476					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Splice_Site	SNP	ENST00000328205.5	37	c.1474_splice	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801116	0.70567	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1701	0.72865	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LIN9	224487519	1.000000	0.71417	0.980000	0.43619	0.831000	0.47069	7.594000	0.82698	1.983000	0.57843	0.533000	0.62120	.		0.294	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083	Intron
PTEN	5728	broad.mit.edu	37	10	89653779	89653780	+	Intron	INS	-	-	AGAT			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr10:89653779_89653780insAGAT	ENST00000371953.3	+	2	1436					NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(4)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAAAGTACTCAGATATTTATC	0.312		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		41	Whole gene deletion(37)|Unknown(4)	p.0?(37)|p.?(4)	prostate(14)|central_nervous_system(8)|skin(6)|lung(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.e2-2		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001627	intron_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653779_89653780insAGAT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.80-2->AGAT	10.37:g.89653780_89653783dupAGAT		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Splice_Site	p.Y27_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	2	1112	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	27		Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	INS	ENST00000371953.3	37	c.80_splice	CCDS31238.1																																																																																				0.312	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
SHOC2	8036	broad.mit.edu	37	10	112696573	112696573	+	Intron	SNP	T	T	C			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr10:112696573T>C	ENST00000369452.4	+	1	111				SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)						fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.H140R(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GTGAGCCAGGTGCCCCAGATA	0.537																																						uc010qrh.1																			2	Substitution - Missense(2)	p.H140R(2)	prostate(1)|kidney(1)								c.(418-420)cAc>cGc		Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.																																				SO:0001627	intron_variant	644511							g.chr10:112696573T>C	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.-235+17158T>C	10.37:g.112696573T>C						SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron	p.H140R							0	441	-								A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	c.419A>G	CCDS7568.1																																																																																				0.537	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373	
HBG2	3048	broad.mit.edu	37	11	5275527	5275527	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:5275527A>G	ENST00000380259.2	-	7	1550	c.310T>C	c.(310-312)Ttc>Ctc	p.F104L	HBG2_ENST00000380252.1_Missense_Mutation_p.F94L|HBG2_ENST00000336906.4_Missense_Mutation_p.F104L			P69892	HBG2_HUMAN	hemoglobin, gamma G	104					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCACCTTGAAGTTCTCAGGA	0.498																																						uc001mai.1																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(310-312)Ttc>Ctc		Homo sapiens hemoglobin, gamma A (HBG1), mRNA.							162.0	125.0	137.0					11																	5275527		2201	4298	6499	SO:0001583	missense	3048				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	g.chr11:5275527A>G	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.310T>C	11.37:g.5275527A>G	ENSP00000369609:p.Phe104Leu					HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.F104L	p.F104L	NM_000559	NP_000550	P69891	HBG1_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	747	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	104					A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Missense_Mutation	SNP	ENST00000380259.2	37	c.310T>C	CCDS7755.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623374	0.87460	.	.	ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906;ENST00000380247	D;D;D	0.97906	-4.6;-4.6;-4.6	4.08	4.08	0.47627	Globin-like (2);Globin, structural domain (2);	.	.	.	.	D	0.99149	0.9706	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98763	1.0725	9	0.87932	D	0	.	12.3307	0.55038	1.0:0.0:0.0:0.0	.	104;104	P69892;P69891	HBG2_HUMAN;HBG1_HUMAN	L	94;104;104;104	ENSP00000369602:F94L;ENSP00000369609:F104L;ENSP00000338082:F104L	ENSP00000338082:F104L	F	-	1	0	HBG2	5232103	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	8.650000	0.91073	1.822000	0.53115	0.528000	0.53228	TTC		0.498	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184	
TRIM51	84767	broad.mit.edu	37	11	55653609	55653610	+	Frame_Shift_Ins	INS	-	-	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:55653609_55653610insA	ENST00000449290.2	+	3	514_515	c.422_423insA	c.(421-426)ctaaaafs	p.LK141fs	TRIM51_ENST00000244891.3_5'UTR	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	141						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GAGGAGCTCCTAAAAAAAATGC	0.401																																						uc010rip.2																			0											c.(421-423)ctafs		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.																																				SO:0001589	frameshift_variant	84767					intracellular	zinc ion binding	g.chr11:55653609_55653610insA	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.430dupA	11.37:g.55653617_55653617dupA	ENSP00000395086:p.Leu141fs					TRIM51_uc010riq.2_5'UTR	p.L141fs	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	514_515	+			141					A6NMG2	Frame_Shift_Ins	INS	ENST00000449290.2	37	c.422_423insA																																																																																					0.401	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	
INCENP	3619	broad.mit.edu	37	11	61898063	61898063	+	Splice_Site	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:61898063G>A	ENST00000394818.3	+	4	1265		c.e4+1		INCENP_ENST00000278849.4_Splice_Site	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa						chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGCATCATCTGTGAGTCTGGG	0.587																																						uc001nsw.1																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.e4+1		Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.							27.0	28.0	28.0					11																	61898063		2192	4281	6473	SO:0001630	splice_region_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61898063G>A	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1063+1G>A	11.37:g.61898063G>A						INCENP_uc009ynv.3_Splice_Site_p.C355_splice|INCENP_uc009ynw.1_Splice_Site_p.C355_splice|INCENP_uc001nsx.1_Splice_Site_p.C355_splice	p.C355_splice	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN			4	1265	+			355					A8MQD2|Q5Y192	Splice_Site	SNP	ENST00000394818.3	37	c.1063_splice	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082730	0.55861	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	.	.	.	5.21	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0066	0.41961	0.0941:0.0:0.9059:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INCENP	61654639	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.684000	0.61686	1.201000	0.43203	0.462000	0.41574	.		0.587	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238	Intron
MYEOV	26579	broad.mit.edu	37	11	69063304	69063304	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:69063304C>A	ENST00000308946.3	+	3	837	c.387C>A	c.(385-387)gaC>gaA	p.D129E	MYEOV_ENST00000535407.1_Missense_Mutation_p.D71E|MYEOV_ENST00000441339.2_Missense_Mutation_p.D129E	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	129										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		AAGACGTGGACGTGTCCCGGG	0.617																																						uc001oov.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(385-387)gaC>gaA		Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.							144.0	137.0	140.0					11																	69063304		2200	4294	6494	SO:0001583	missense	26579							g.chr11:69063304C>A	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.387C>A	11.37:g.69063304C>A	ENSP00000308330:p.Asp129Glu					MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Missense_Mutation_p.D129E|MYEOV_uc001oow.3_Missense_Mutation_p.D71E	p.D129E	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	837	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		129					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.387C>A	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	C	7.520	0.656480	0.14580	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.24350	1.87;1.87;1.86	1.06	-1.29	0.09288	.	.	.	.	.	T	0.24624	0.0597	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.28681	-1.0036	9	0.87932	D	0	.	6.5229	0.22285	0.0:0.6783:0.0:0.3217	.	129	Q96EZ4	MYEOV_HUMAN	E	129;129;71	ENSP00000412482:D129E;ENSP00000308330:D129E;ENSP00000438100:D71E	ENSP00000308330:D129E	D	+	3	2	MYEOV	68819880	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.007000	0.13174	-1.202000	0.02655	-1.564000	0.00881	GAC		0.617	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1		
VWF	7450	broad.mit.edu	37	12	6127617	6127617	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:6127617G>A	ENST00000261405.5	-	28	5221	c.4967C>T	c.(4966-4968)aCg>aTg	p.T1656M		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1656	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCGGGGGAGCGTCTCAAAGTC	0.632																																						uc001qnn.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(4966-4968)aCg>aTg		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)						41.0	38.0	39.0					12																	6127617		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6127617G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4967C>T	12.37:g.6127617G>A	ENSP00000261405:p.Thr1656Met					VWF_uc010set.1_Intron	p.T1656M	NM_000552	NP_000543	P04275	VWF_HUMAN			27	5217	-			1656			VWFA 2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.4967C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	8.841	0.942245	0.18281	.	.	ENSG00000110799	ENST00000261405	T	0.78481	-1.18	5.03	-8.17	0.01057	von Willebrand factor, type A (2);	2.374640	0.01795	N	0.032545	T	0.63105	0.2483	L	0.38175	1.15	0.09310	N	1	P	0.40834	0.73	B	0.40982	0.345	T	0.61063	-0.7138	10	0.41790	T	0.15	.	1.5934	0.02659	0.3527:0.2938:0.1986:0.1549	.	1656	P04275	VWF_HUMAN	M	1656	ENSP00000261405:T1656M	ENSP00000261405:T1656M	T	-	2	0	VWF	5997878	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-2.696000	0.00827	-1.453000	0.01928	-0.378000	0.06908	ACG		0.632	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
MDM2	4193	broad.mit.edu	37	12	69229607	69229607	+	Splice_Site	SNP	A	A	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:69229607A>G	ENST00000350057.5	+	7	591		c.e7-1		MDM2_ENST00000356290.4_Splice_Site|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258149.5_Splice_Site|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000360430.2_Splice_Site|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Splice_Site|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000428863.2_Splice_Site|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Splice_Site|MDM2_ENST00000258148.7_Splice_Site|MDM2_ENST00000540827.1_Splice_Site|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Splice_Site			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase						cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTCTTGTTTTAGGATCTTGAT	0.398			A		"""sarcoma, glioma, colorectal, other"""																																	uc021rad.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.e8-2		Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.							147.0	138.0	141.0					12																	69229607		1848	4099	5947	SO:0001630	splice_region_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69229607A>G		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.592-1A>G	12.37:g.69229607A>G						MDM2_uc001sui.3_Splice_Site_p.D229_splice|MDM2_uc009zqx.3_Splice_Site_p.D174_splice|MDM2_uc009zqy.1_Splice_Site_p.D218_splice|MDM2_uc021rae.1_Splice_Site_p.D218_splice|MDM2_uc001sun.4_Splice_Site_p.D48_splice|MDM2_uc009zra.3_Splice_Site_p.D48_splice|MDM2_uc021raf.1_Splice_Site|MDM2_uc009zrc.3_Intron|MDM2_uc009zrd.3_Splice_Site|MDM2_uc009zre.3_Intron|MDM2_uc001suo.3_Splice_Site_p.D23_splice|MDM2_uc009zrf.3_Intron|MDM2_uc009zrg.3_Intron|MDM2_uc009zrh.3_Splice_Site_p.D23_splice|MDM2_uc021rag.1_Splice_Site|MDM2_uc021rah.1_Splice_Site_p.D193_splice|MDM2_uc021rai.1_Splice_Site|MDM2_uc021raj.1_Intron	p.D122_splice			Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		8	838	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		223					A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Splice_Site	SNP	ENST00000350057.5	37	c.364_splice		.	.	.	.	.	.	.	.	.	.	A	11.70	1.717467	0.30413	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000428863;ENST00000358483;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000543323;ENST00000523991;ENST00000350057;ENST00000299252;ENST00000360430;ENST00000348801	.	.	.	4.73	0.659	0.17861	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8815	0.46942	0.7864:0.0:0.0:0.2136	.	.	.	.	.	-1	.	.	.	+	.	.	MDM2	67515874	1.000000	0.71417	0.184000	0.23157	0.717000	0.41224	7.336000	0.79245	0.006000	0.14734	0.377000	0.23210	.		0.398	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880	Intron
UHRF1BP1L	23074	broad.mit.edu	37	12	100491231	100491231	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:100491231G>A	ENST00000279907.7	-	6	793	c.581C>T	c.(580-582)gCc>gTc	p.A194V	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.A194V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	194										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACTTTGGGTGGCATCTGCCTC	0.353																																						uc001tgq.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(580-582)gCc>gTc		Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.							139.0	123.0	128.0					12																	100491231		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100491231G>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.581C>T	12.37:g.100491231G>A	ENSP00000279907:p.Ala194Val					UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.A194V	p.A194V	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			5	810	-			194					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.581C>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861743	0.91433	.	.	ENSG00000111647	ENST00000279907;ENST00000356828	T;T	0.34275	2.69;1.37	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	L	0.61387	1.9	0.80722	D	1	D;D	0.89917	0.982;1.0	P;D	0.91635	0.831;0.999	T	0.61382	-0.7074	10	0.72032	D	0.01	-17.7547	19.6582	0.95853	0.0:0.0:1.0:0.0	.	194;194	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	V	194	ENSP00000279907:A194V;ENSP00000349285:A194V	ENSP00000279907:A194V	A	-	2	0	UHRF1BP1L	99015362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.297000	0.96120	2.714000	0.92807	0.655000	0.94253	GCC		0.353	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
OAS2	4939	broad.mit.edu	37	12	113447043	113447043	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:113447043C>T	ENST00000342315.4	+	10	2261	c.2047C>T	c.(2047-2049)Ccg>Tcg	p.P683S	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.P683S	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	683	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTGGAAAGTGCCGGTAAAAGT	0.458																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.3																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2047-2049)Ccg>Tcg		Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.							183.0	183.0	183.0					12																	113447043		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113447043C>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2047C>T	12.37:g.113447043C>T	ENSP00000342278:p.Pro683Ser					OAS2_uc001tui.1_Missense_Mutation_p.P683S	p.P683S	NM_016817	NP_058197	P29728	OAS2_HUMAN			9	2187	+			683			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.2047C>T	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	14.58	2.579288	0.46006	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.41400	1.0;1.0	4.39	3.5	0.40072	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.809574	0.10268	N	0.695164	T	0.60287	0.2257	M	0.61703	1.905	0.30815	N	0.738447	D;P	0.89917	1.0;0.932	D;P	0.91635	0.999;0.643	T	0.55444	-0.8140	10	0.45353	T	0.12	-29.1712	10.3375	0.43858	0.0:0.8006:0.1994:0.0	.	683;683	P29728;P29728-2	OAS2_HUMAN;.	S	683	ENSP00000342278:P683S;ENSP00000376362:P683S	ENSP00000342278:P683S	P	+	1	0	OAS2	111931426	0.043000	0.20138	0.086000	0.20670	0.003000	0.03518	0.433000	0.21477	1.074000	0.40909	-0.122000	0.15005	CCG		0.458	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		
VWA8	23078	broad.mit.edu	37	13	42481750	42481750	+	Missense_Mutation	SNP	C	C	T	rs200022468		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:42481750C>T	ENST00000379310.3	-	4	523	c.455G>A	c.(454-456)cGt>cAt	p.R152H	RNU6-74P_ENST00000384235.1_RNA|VWA8_ENST00000281496.6_Missense_Mutation_p.R152H	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	152						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TGTGCCTGCACGGATCTCTCG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		17838	0.0		0.001	False		,,,				2504	0.0					uc001uyj.3																			0				endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(454-456)cGt>cAt		Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.							190.0	151.0	165.0					13																	42481750		2203	4300	6503	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42481750C>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.455G>A	13.37:g.42481750C>T	ENSP00000368612:p.Arg152His					KIAA0564_uc001uyk.3_Missense_Mutation_p.R152H	p.R152H	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	3	525	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	152					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.455G>A	CCDS41881.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.24	3.788773	0.70337	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.55760	0.5;0.5	5.07	5.07	0.68467	ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	D	0.000003	T	0.44912	0.1316	L	0.41573	1.285	0.58432	D	0.999998	P	0.42584	0.784	B	0.34452	0.183	T	0.53865	-0.8378	10	0.66056	D	0.02	.	18.8058	0.92037	0.0:1.0:0.0:0.0	.	152	A3KMH1	K0564_HUMAN	H	56;152;152;152	ENSP00000368612:R152H;ENSP00000281496:R152H	ENSP00000251030:R56H	R	-	2	0	KIAA0564	41379750	1.000000	0.71417	0.952000	0.39060	0.855000	0.48748	5.821000	0.69257	2.518000	0.84900	0.591000	0.81541	CGT		0.458	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
TRIM13	10206	broad.mit.edu	37	13	50587073	50587073	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:50587073A>T	ENST00000378182.3	+	2	1735	c.997A>T	c.(997-999)Acc>Tcc	p.T333S	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000356017.4_Missense_Mutation_p.T336S|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000298772.5_Missense_Mutation_p.T336S|KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000457662.2_Missense_Mutation_p.T333S|TRIM13_ENST00000420995.2_Missense_Mutation_p.T333S	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	333					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CTTTGGTCCTACCATGTTCCT	0.408																																						uc001vdp.1																			0				large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1006-1008)Acc>Tcc		Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.							206.0	213.0	210.0					13																	50587073		2203	4300	6503	SO:0001583	missense	10206				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50587073A>T	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.997A>T	13.37:g.50587073A>T	ENSP00000367424:p.Thr333Ser					DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_5'Flank|KCNRG_uc001vdu.3_5'Flank|TRIM13_uc001vdq.1_Missense_Mutation_p.T333S|TRIM13_uc001vdr.1_Missense_Mutation_p.T333S|TRIM13_uc001vds.1_Missense_Mutation_p.T333S|TRIM13_uc021rjq.1_Missense_Mutation_p.T333S	p.T336S	NM_001007278	NP_998755	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	3	1424	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	333					B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	c.1006A>T	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	A	5.492	0.275786	0.10403	.	.	ENSG00000204977	ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T	0.24908	1.83;1.83;2.37;1.83;2.37	5.81	1.95	0.26073	.	0.542255	0.20544	N	0.090243	T	0.10035	0.0246	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.20940	-1.0260	9	.	.	.	-0.0238	1.2122	0.01907	0.5308:0.1506:0.1732:0.1454	.	333;336	O60858;O60858-3	TRI13_HUMAN;.	S	333;333;336;333;336	ENSP00000412943:T333S;ENSP00000367424:T333S;ENSP00000348299:T336S;ENSP00000399206:T333S;ENSP00000298772:T336S	.	T	+	1	0	TRIM13	49485074	0.232000	0.23762	0.224000	0.23877	0.962000	0.63368	1.218000	0.32467	0.472000	0.27344	0.533000	0.62120	ACC		0.408	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278	
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	IGR	SNP	C	C	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:75814354C>G								AL162571.1 (31181 upstream) : LINC01078 (10261 downstream)																							CCACCAGTTCCCATGGAAAAC	0.488																																						uc010ths.2																			0											c.(121-123)tgG>tgC		Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																																				SO:0001628	intergenic_variant	647288							g.chr13:75814354C>G																													13.37:g.75814354C>G							p.W41C							0	164	-									Missense_Mutation	SNP		37	c.123G>C																																																																																				0	0.488								
SLITRK6	84189	broad.mit.edu	37	13	86369237	86369237	+	Missense_Mutation	SNP	G	G	T	rs372239591		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:86369237G>T	ENST00000400286.2	-	2	2005	c.1407C>A	c.(1405-1407)aaC>aaA	p.N469K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	469					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTTGGAGGAGGTTGTTATTTA	0.328																																						uc001vll.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1405-1407)aaC>aaA		Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.							77.0	75.0	76.0					13																	86369237		1796	4068	5864	SO:0001583	missense	84189					integral to membrane		g.chr13:86369237G>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1407C>A	13.37:g.86369237G>T	ENSP00000383143:p.Asn469Lys					SLITRK6_uc021rla.1_Missense_Mutation_p.N469K	p.N469K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	1	1866	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		469	N -> H (in Ref. 1).				A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1407C>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336930	0.41398	.	.	ENSG00000184564	ENST00000400286	T	0.74421	-0.84	5.86	-1.08	0.09936	.	0.000000	0.64402	U	0.000001	D	0.89719	0.6796	H	0.98629	4.285	0.45634	D	0.998562	D	0.89917	1.0	D	0.91635	0.999	D	0.89888	0.4035	10	0.72032	D	0.01	-10.8171	11.7522	0.51855	0.5654:0.0:0.4346:0.0	.	469	Q9H5Y7	SLIK6_HUMAN	K	469	ENSP00000383143:N469K	ENSP00000383143:N469K	N	-	3	2	SLITRK6	85267238	1.000000	0.71417	0.629000	0.29254	0.928000	0.56348	0.692000	0.25482	-0.157000	0.11059	0.655000	0.94253	AAC		0.328	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
SAMD15	161394	broad.mit.edu	37	14	77843838	77843839	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr14:77843838_77843839insTG	ENST00000216471.4	+	1	363_364	c.77_78insTG	c.(76-81)cctggafs	p.G27fs	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	27										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTGAACTGCCTGGACTTCATA	0.54																																						uc001xtq.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(76-78)cctfs		Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.																																				SO:0001589	frameshift_variant	161394							g.chr14:77843838_77843839insTG	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.78_79dupTG	14.37:g.77843839_77843840dupTG	ENSP00000216471:p.Gly27fs					TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Frame_Shift_Ins_p.P26fs	p.P26fs	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN			0	77_78	+			26					Q2M3P3	Frame_Shift_Ins	INS	ENST00000216471.4	37	c.77_78insTG	CCDS32126.1																																																																																				0.540	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860	
SERPINA11	256394	broad.mit.edu	37	14	94912764	94912764	+	Missense_Mutation	SNP	G	G	A	rs563316230		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr14:94912764G>A	ENST00000334708.3	-	3	885	c.821C>T	c.(820-822)gCg>gTg	p.A274V	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	274					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GACCAGCAGCGCCAAGGCATT	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		19489	0.0		0.0	False		,,,				2504	0.001					uc001ydd.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24						c.(820-822)gCg>gTg		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.							116.0	105.0	109.0					14																	94912764		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94912764G>A	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.821C>T	14.37:g.94912764G>A	ENSP00000335024:p.Ala274Val						p.A274V	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	881	-			274					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.821C>T	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640726	0.29157	.	.	ENSG00000186910	ENST00000334708	D	0.84298	-1.83	5.53	0.416	0.16416	Serpin domain (3);	0.606715	0.14437	N	0.319661	D	0.88562	0.6470	M	0.78456	2.415	0.09310	N	1	D	0.56035	0.974	P	0.55965	0.788	T	0.79899	-0.1608	10	0.51188	T	0.08	.	10.0241	0.42061	0.3949:0.0:0.6051:0.0	.	274	Q86U17	SPA11_HUMAN	V	274	ENSP00000335024:A274V	ENSP00000335024:A274V	A	-	2	0	SERPINA11	93982517	0.939000	0.31865	0.016000	0.15963	0.063000	0.16089	2.292000	0.43549	0.133000	0.18654	0.555000	0.69702	GCG		0.547	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451	
GATM	2628	broad.mit.edu	37	15	45658329	45658329	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr15:45658329T>C	ENST00000396659.3	-	6	1232	c.893A>G	c.(892-894)gAt>gGt	p.D298G	GATM_ENST00000558336.1_Missense_Mutation_p.D298G	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	298					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	GGGATTGGGATCTTTAAAGGA	0.428																																						uc001zvc.3																			0				biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(892-894)gAt>gGt		Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)						175.0	156.0	163.0					15																	45658329		2198	4298	6496	SO:0001583	missense	2628				creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	g.chr15:45658329T>C	S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.893A>G	15.37:g.45658329T>C	ENSP00000379895:p.Asp298Gly					GATM_uc001zvb.3_Missense_Mutation_p.D169G|GATM_uc010uev.1_Missense_Mutation_p.D351G	p.D298G	NM_001482	NP_001473	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	5	1222	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	298					B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	c.893A>G	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652409	0.67472	.	.	ENSG00000171766	ENST00000396659	T	0.46451	0.87	4.95	4.95	0.65309	.	0.084638	0.85682	D	0.000000	T	0.60287	0.2257	M	0.76328	2.33	0.80722	D	1	D;D	0.61697	0.987;0.99	P;D	0.63033	0.855;0.91	T	0.62039	-0.6938	10	0.45353	T	0.12	-18.8222	12.8664	0.57941	0.0:0.0:0.0:1.0	.	298;298	P50440-3;P50440	.;GATM_HUMAN	G	298	ENSP00000379895:D298G	ENSP00000379895:D298G	D	-	2	0	GATM	43445621	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.388000	0.79795	2.198000	0.70561	0.533000	0.62120	GAT		0.428	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482	
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						uc002dhc.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gtggct>gct		Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.V565del	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			11	1917_1919	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
NUP88	4927	broad.mit.edu	37	17	5322843	5322843	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr17:5322843G>A	ENST00000573584.1	-	1	637	c.128C>T	c.(127-129)gCt>gTt	p.A43V	RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000381209.3_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000536255.2_5'Flank|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000327154.6_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	43					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CGACGAAGAAGCTGGTTTCTC	0.602																																						uc010vsx.2																			0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(127-129)gCt>gTt		Homo sapiens nucleoporin 88kDa (NUP88), mRNA.							99.0	96.0	97.0					17																	5322843		2203	4300	6503	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5322843G>A	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.128C>T	17.37:g.5322843G>A	ENSP00000458954:p.Ala43Val					NUP88_uc002gbo.2_Missense_Mutation_p.A43V|NUP88_uc010cle.2_Missense_Mutation_p.A43V|NUP88_uc010vsy.2_Missense_Mutation_p.A43V|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	p.A43V	NM_002532	NP_002523	Q99567	NUP88_HUMAN			0	217	-			43					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.128C>T	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422518	0.62622	.	.	ENSG00000108559	ENST00000225696	.	.	.	4.98	-1.67	0.08238	.	0.854566	0.10225	N	0.700441	T	0.27098	0.0664	L	0.44542	1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.24083	-1.0170	9	0.30854	T	0.27	-13.3692	2.0998	0.03677	0.1168:0.1504:0.2741:0.4588	.	43;43	B7Z5I6;Q99567	.;NUP88_HUMAN	V	43	.	ENSP00000225696:A43V	A	-	2	0	NUP88	5263567	0.003000	0.15002	0.000000	0.03702	0.745000	0.42441	1.046000	0.30354	-0.019000	0.14055	-1.028000	0.02416	GCT		0.602	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532	
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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)	uc002gim.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"""		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(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	CM034930	TP53	M		c.(712-714)tGt>tAt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							132.0	103.0	113.0					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577568C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.713G>A	17.37:g.7577568C>T	ENSP00000269305:p.Cys238Tyr	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_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.3_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	p.C238Y	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	907	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.713G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ZCCHC2	54877	broad.mit.edu	37	18	60243794	60243794	+	Silent	SNP	G	G	A	rs376639243		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr18:60243794G>A	ENST00000269499.5	+	14	3937	c.3519G>A	c.(3517-3519)acG>acA	p.T1173T	ZCCHC2_ENST00000586834.1_Silent_p.T852T	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1173						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CTAATGATACGTTGGATTCTG	0.468																																						uc002lip.4																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(3517-3519)acG>acA		Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.		G		1,3937		0,1,1968	151.0	138.0	142.0		3519	5.6	1.0	18		142	0,8310		0,0,4155	no	coding-synonymous	ZCCHC2	NM_017742.4		0,1,6123	AA,AG,GG		0.0,0.0254,0.0082		1173/1179	60243794	1,12247	1969	4155	6124	SO:0001819	synonymous_variant	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60243794G>A	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.3519G>A	18.37:g.60243794G>A						ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Silent_p.T643T	p.T1173T	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN			13	3519	+			1173					B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	c.3519G>A	CCDS45880.1																																																																																				0.468	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742	
ARHGEF18	23370	broad.mit.edu	37	19	7531967	7531967	+	Missense_Mutation	SNP	G	G	A	rs150543189		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:7531967G>A	ENST00000359920.6	+	15	2661	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.G761R|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R645Q	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	803					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CTTGTCCAGCGGATCCAGACA	0.672																																						uc002mgi.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(2407-2409)cGg>cAg		Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	67.0	70.0	69.0		2408,1934	4.3	0.2	19	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ARHGEF18	NM_001130955.1,NM_015318.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	803/1174,645/1016	7531967	1,13005	2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7531967G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2408G>A	19.37:g.7531967G>A	ENSP00000352995:p.Arg803Gln					ARHGEF18_uc010xjm.1_Missense_Mutation_p.R645Q|ARHGEF18_uc002mgh.3_Missense_Mutation_p.R645Q|ARHGEF18_uc002mgj.1_Missense_Mutation_p.R446Q	p.R803Q	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN			14	2661	+		Renal(5;0.0902)	803					A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.2408G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770033	0.49680	0.0	1.16E-4	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.42131	0.98;0.98	5.38	4.34	0.51931	.	0.000000	0.52532	D	0.000063	T	0.54532	0.1864	M	0.67953	2.075	0.23162	N	0.998197	D;P	0.76494	0.999;0.81	D;B	0.64506	0.926;0.282	T	0.46190	-0.9209	10	0.19590	T	0.45	-30.1719	9.6159	0.39692	0.0958:0.0:0.9042:0.0	.	645;803	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	Q	645;803	ENSP00000319200:R645Q;ENSP00000352995:R803Q	ENSP00000319200:R645Q	R	+	2	0	ARHGEF18	7437967	0.997000	0.39634	0.163000	0.22734	0.069000	0.16628	5.656000	0.67988	1.270000	0.44297	0.561000	0.74099	CGG		0.672	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318	
ZNF492	57615	broad.mit.edu	37	19	22846654	22846654	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:22846654T>A	ENST00000456783.2	+	4	427	c.183T>A	c.(181-183)aaT>aaA	p.N61K	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N61K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GCAAAAAAAATTATTTCCAAA	0.318																																						uc002nqw.3																			1	Substitution - Missense(1)	p.N61K(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(181-183)aaT>aaA		Homo sapiens zinc finger protein 492 (ZNF492), mRNA.							24.0	29.0	27.0					19																	22846654		1808	4099	5907	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22846654T>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.183T>A	19.37:g.22846654T>A	ENSP00000413660:p.Asn61Lys						p.N61K	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			3	427	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	61					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.183T>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	6.483	0.457234	0.12342	.	.	ENSG00000229676	ENST00000456783	T	0.06687	3.27	1.17	-0.252	0.12999	.	.	.	.	.	T	0.04724	0.0128	N	0.14661	0.345	0.09310	N	1	B	0.28900	0.227	B	0.31946	0.138	T	0.40997	-0.9533	9	0.54805	T	0.06	.	3.2579	0.06839	0.0:0.2972:0.0:0.7028	.	61	Q9P255	ZN492_HUMAN	K	61	ENSP00000413660:N61K	ENSP00000413660:N61K	N	+	3	2	ZNF492	22638494	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-2.949000	0.00679	-0.292000	0.08999	0.377000	0.23210	AAT		0.318	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855	
MAG	4099	broad.mit.edu	37	19	35801013	35801013	+	Missense_Mutation	SNP	G	G	A	rs202083530		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:35801013G>A	ENST00000392213.3	+	8	1627	c.1468G>A	c.(1468-1470)Gcg>Acg	p.A490T	MAG_ENST00000537831.2_Missense_Mutation_p.A465T|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000361922.4_Missense_Mutation_p.A490T	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	490	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CATCTGCACCGCGAGGAACCT	0.706																																						uc002nyy.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1468-1470)Gcg>Acg		Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.							32.0	33.0	33.0					19																	35801013		2203	4298	6501	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35801013G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1468G>A	19.37:g.35801013G>A	ENSP00000376048:p.Ala490Thr					MAG_uc002nyx.2_Missense_Mutation_p.A490T|MAG_uc010eds.2_Missense_Mutation_p.A465T|MAG_uc002nyz.2_Missense_Mutation_p.A490T	p.A490T	NM_002361	NP_001186145	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1666	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	490			Ig-like C2-type 4.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1468G>A	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669335	0.47677	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.19250	2.16;2.16;2.16	4.68	-2.33	0.06724	.	0.572908	0.18803	N	0.130721	T	0.13670	0.0331	L	0.29908	0.895	0.09310	N	1	P;P;B	0.40515	0.719;0.455;0.269	B;B;B	0.32928	0.138;0.155;0.048	T	0.14980	-1.0453	10	0.87932	D	0	.	16.8227	0.85922	0.0:0.0:0.7871:0.2129	.	527;490;490	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	T	527;490;490;465	ENSP00000355234:A490T;ENSP00000376048:A490T;ENSP00000440695:A465T	ENSP00000262624:A527T	A	+	1	0	MAG	40492853	0.010000	0.17322	0.763000	0.31416	0.903000	0.53119	0.230000	0.17852	-0.301000	0.08882	-0.521000	0.04368	GCG		0.706	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
CYP2B6	1555	broad.mit.edu	37	19	41512932	41512932	+	Missense_Mutation	SNP	T	T	C	rs140578107		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:41512932T>C	ENST00000324071.4	+	4	614	c.607T>C	c.(607-609)Tac>Cac	p.Y203H	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	203					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	GAACTTGTTCTACCAGACTTT	0.512													t|||	1	0.000199681	0.0	0.0	5008	,	,		22776	0.001		0.0	False		,,,				2504	0.0					uc002opr.1																			0		p.F202L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(607-609)Tac>Cac		Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						164.0	146.0	152.0					19																	41512932		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41512932T>C	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.607T>C	19.37:g.41512932T>C	ENSP00000324648:p.Tyr203His					CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	p.Y203H	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		3	614	+			203					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.607T>C	CCDS12570.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	8.721	0.914262	0.17907	.	.	ENSG00000197408	ENST00000324071	T	0.67698	-0.28	4.46	-2.06	0.07298	.	0.468623	0.22540	N	0.058723	T	0.45577	0.1349	N	0.21373	0.66	0.09310	N	1	B	0.10296	0.003	B	0.22753	0.041	T	0.32428	-0.9907	10	0.41790	T	0.15	.	7.0862	0.25259	0.6353:0.0:0.131:0.2337	.	203	P20813	CP2B6_HUMAN	H	203	ENSP00000324648:Y203H	ENSP00000324648:Y203H	Y	+	1	0	CYP2B6	46204772	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.010000	0.13242	-0.068000	0.12953	0.393000	0.25936	TAC		0.512	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767	
TULP2	7288	broad.mit.edu	37	19	49398651	49398651	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:49398651G>A	ENST00000221399.3	-	5	465	c.321C>T	c.(319-321)cgC>cgT	p.R107R		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	107					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TCGGGAGGCCGCGCTCGCCCC	0.632																																						uc002pkz.2																			0				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22						c.(319-321)cgC>cgT		Homo sapiens tubby like protein 2 (TULP2), mRNA.							68.0	78.0	74.0					19																	49398651		2203	4300	6503	SO:0001819	synonymous_variant	7288				visual perception	cytoplasm|extracellular region		g.chr19:49398651G>A	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.321C>T	19.37:g.49398651G>A							p.R107R	NM_003323	NP_003314	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	4	472	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	107					Q8TC50	Silent	SNP	ENST00000221399.3	37	c.321C>T	CCDS12739.1																																																																																				0.632	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323	
TRIB2	28951	broad.mit.edu	37	2	12858629	12858629	+	Silent	SNP	T	T	C	rs144421263		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:12858629T>C	ENST00000405331.3	+	1	266	c.196T>C	c.(196-198)Ttg>Ctg	p.L66L	TRIB2_ENST00000155926.4_Silent_p.L66L|RP11-333O1.1_ENST00000569860.1_lincRNA|TRIB2_ENST00000381465.2_Intron					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAAATACTTATTGTTGGAACC	0.577											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	1	0.000199681	0.0008	0.0	5008	,	,		14378	0.0		0.0	False		,,,				2504	0.0					uc002rbv.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(196-198)Ttg>Ctg		Homo sapiens tribbles homolog 2 (Drosophila) (TRIB2), transcript variant 1, mRNA.		T		2,4404	4.2+/-10.8	0,2,2201	70.0	73.0	72.0		196	2.3	1.0	2	dbSNP_134	72	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	TRIB2	NM_021643.3		0,7,6496	CC,CT,TT		0.0581,0.0454,0.0538		66/344	12858629	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12858629T>C	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.196T>C	2.37:g.12858629T>C			OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	TRIB2_uc010yjp.2_Intron	p.L66L	NM_021643	NP_067675	Q92519	TRIB2_HUMAN			0	1632	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		66			Protein kinase.			Silent	SNP	ENST00000405331.3	37	c.196T>C																																																																																					0.577	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643	
IFT172	26160	broad.mit.edu	37	2	27682592	27682592	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:27682592G>T	ENST00000260570.3	-	24	2729	c.2626C>A	c.(2626-2628)Cac>Aac	p.H876N		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	876					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCGATGTAGTGATTAATGGCT	0.522																																						uc002rku.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(2626-2628)Cac>Aac		Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.							185.0	173.0	177.0					2																	27682592		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27682592G>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2626C>A	2.37:g.27682592G>T	ENSP00000260570:p.His876Asn						p.H876N	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			23	2677	-	Acute lymphoblastic leukemia(172;0.155)		876					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.2626C>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012479	0.93346	.	.	ENSG00000138002	ENST00000260570	T	0.63744	-0.06	6.08	6.08	0.98989	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.83945	0.5364	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85834	0.1393	10	0.72032	D	0.01	-18.042	19.2285	0.93827	0.0:0.0:1.0:0.0	.	876	Q9UG01	IF172_HUMAN	N	876	ENSP00000260570:H876N	ENSP00000260570:H876N	H	-	1	0	IFT172	27536096	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.540000	0.98080	2.890000	0.99128	0.655000	0.94253	CAC		0.522	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
PMS1	5378	broad.mit.edu	37	2	190728600	190728600	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:190728600C>T	ENST00000441310.2	+	10	2221	c.1988C>T	c.(1987-1989)gCc>gTc	p.A663V	PMS1_ENST00000418224.3_Missense_Mutation_p.A487V|PMS1_ENST00000432292.3_Missense_Mutation_p.A487V|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.A624V|PMS1_ENST00000447232.2_Intron	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	663					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.A663V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGGAATTTGGCCCAGAAGCAC	0.363			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.4			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			1	Substitution - Missense(1)	p.A663V(2)	kidney(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1987-1989)gCc>gTc	Direct reversal of damage;Mismatch excision repair (MMR)	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.							105.0	114.0	111.0					2																	190728600		2203	4300	6503	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190728600C>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1988C>T	2.37:g.190728600C>T	ENSP00000406490:p.Ala663Val					PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.A602V|PMS1_uc002urk.4_Missense_Mutation_p.A624V|PMS1_uc002uri.4_Intron|PMS1_uc010zgc.2_Missense_Mutation_p.A487V|PMS1_uc010zgd.2_Missense_Mutation_p.A487V|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.A624V|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Intron|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_Missense_Mutation_p.A331V	p.A663V	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		9	2517	+			663					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.1988C>T	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984571	0.53934	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000432292;ENST00000424307;ENST00000452382	T;T;T;T;D;T	0.87334	1.81;1.81;1.81;1.81;-2.24;1.86	5.36	5.36	0.76844	.	0.298435	0.36167	N	0.002756	D	0.84428	0.5470	L	0.59436	1.845	0.28723	N	0.902943	B;P;P;B	0.36222	0.083;0.544;0.544;0.083	B;B;B;B	0.30943	0.05;0.113;0.122;0.05	T	0.82798	-0.0279	10	0.62326	D	0.03	-4.8142	16.6848	0.85302	0.0:1.0:0.0:0.0	.	663;624;624;663	Q4VAL4;Q5FBZ9;Q5FBZ3;P54277	.;.;.;PMS1_HUMAN	V	487;663;487;624;487;602;51	ENSP00000406490:A663V;ENSP00000404492:A487V;ENSP00000387125:A624V;ENSP00000398378:A487V;ENSP00000389938:A602V;ENSP00000396232:A51V	ENSP00000376149:A487V	A	+	2	0	PMS1	190436845	0.944000	0.32072	1.000000	0.80357	0.754000	0.42855	2.767000	0.47637	2.806000	0.96561	0.644000	0.83932	GCC		0.363	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2		
AOX1	316	broad.mit.edu	37	2	201523898	201523898	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:201523898G>A	ENST00000374700.2	+	28	3423	c.3182G>A	c.(3181-3183)cGt>cAt	p.R1061H	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1061					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTGGTCAGCCGTGAATTAAGA	0.453																																						uc002uvx.3																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(3181-3183)cGt>cAt		Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						97.0	93.0	94.0					2																	201523898		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201523898G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3182G>A	2.37:g.201523898G>A	ENSP00000363832:p.Arg1061His					AOX1_uc010zhf.2_Missense_Mutation_p.R617H|AOX1_uc010fsu.3_Missense_Mutation_p.R427H	p.R1061H	NM_001159	NP_001150	Q06278	ADO_HUMAN			27	3283	+			1061					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3182G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389520	0.61956	.	.	ENSG00000138356	ENST00000374700	T	0.43688	0.94	4.97	3.19	0.36642	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	L	0.52823	1.66	0.58432	D	0.999998	B	0.29988	0.264	B	0.28232	0.087	T	0.20874	-1.0262	10	0.48119	T	0.1	-26.5045	11.523	0.50562	0.1455:0.0:0.8545:0.0	.	1061	Q06278	ADO_HUMAN	H	1061	ENSP00000363832:R1061H	ENSP00000363832:R1061H	R	+	2	0	AOX1	201232143	1.000000	0.71417	0.990000	0.47175	0.796000	0.44982	3.707000	0.54838	0.699000	0.31761	-0.215000	0.12644	CGT		0.453	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
ABCA12	26154	broad.mit.edu	37	2	215843155	215843156	+	Frame_Shift_Ins	INS	-	-	T	rs387906285		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:215843155_215843156insT	ENST00000272895.7	-	33	5231_5232	c.5012_5013insA	c.(5011-5013)aatfs	p.N1671fs	ABCA12_ENST00000389661.4_Frame_Shift_Ins_p.N1353fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1671					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATAGCACTATTTTTTTGTGA	0.376																																					Ovarian(66;664 1488 5121 34295)	uc002vew.3																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139	GRCh37	CD051281	ABCA12	D		c.(5011-5013)aatfs		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215843155_215843156insT	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5013dupA	2.37:g.215843162_215843162dupT	ENSP00000272895:p.Asn1671fs					ABCA12_uc002vev.3_Frame_Shift_Ins_p.N1353fs|ABCA12_uc010zjn.2_Frame_Shift_Ins_p.N598fs	p.N1671fs	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	32	5232_5233	-		Renal(323;0.127)	1671					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Ins	INS	ENST00000272895.7	37	c.5012_5013insA	CCDS33372.1																																																																																				0.376	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
NEU2	4759	broad.mit.edu	37	2	233899564	233899564	+	Nonsense_Mutation	SNP	C	C	T	rs370611873		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:233899564C>T	ENST00000233840.3	+	2	940	c.940C>T	c.(940-942)Cga>Tga	p.R314*		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	314					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CCTCAACCCGCGACCTCCAGC	0.692																																						uc010zmn.2																			0		p.P313P(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(940-942)Cga>Tga		Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	66.0	63.0		940	-4.9	0.0	2		63	0,8600		0,0,4300	no	stop-gained	NEU2	NM_005383.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		314/381	233899564	1,13005	2203	4300	6503	SO:0001587	stop_gained	4759						exo-alpha-sialidase activity	g.chr2:233899564C>T	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.940C>T	2.37:g.233899564C>T	ENSP00000233840:p.Arg314*						p.R314*	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	1	940	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	314					Q3KNW4|Q6NTB4	Nonsense_Mutation	SNP	ENST00000233840.3	37	c.940C>T	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	C	9.251	1.040750	0.19669	2.27E-4	0.0	ENSG00000115488	ENST00000233840	.	.	.	4.87	-4.89	0.03103	.	2.365370	0.01871	N	0.037237	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.5167	1.4827	0.02440	0.3938:0.146:0.0924:0.3678	.	.	.	.	X	314	.	ENSP00000233840:R314X	R	+	1	2	NEU2	233607808	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.134000	0.10436	-0.427000	0.07350	-0.150000	0.13652	CGA		0.692	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383	
COL6A3	1293	broad.mit.edu	37	2	238280769	238280769	+	Silent	SNP	G	G	A	rs200722316		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:238280769G>A	ENST00000295550.4	-	9	4343	c.3891C>T	c.(3889-3891)aaC>aaT	p.N1297N	COL6A3_ENST00000392003.2_Silent_p.N890N|COL6A3_ENST00000347401.3_Silent_p.N1096N|COL6A3_ENST00000409809.1_Silent_p.N1091N|COL6A3_ENST00000353578.4_Silent_p.N1091N|COL6A3_ENST00000392004.3_Silent_p.N1091N|COL6A3_ENST00000472056.1_Silent_p.N690N|COL6A3_ENST00000346358.4_Silent_p.N1097N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1297	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.N1297N(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGCACCGCGTTCTGCACTT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19640	0.0		0.001	False		,,,				2504	0.0					uc002vwl.2																			1	Substitution - coding silent(1)	p.N1297N(2)	central_nervous_system(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3889-3891)aaC>aaT		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							66.0	58.0	60.0					2																	238280769		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280769G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3891C>T	2.37:g.238280769G>A						COL6A3_uc002vwo.2_Silent_p.N1091N|COL6A3_uc010znj.1_Silent_p.N690N|COL6A3_uc002vwq.3_Silent_p.N1091N|COL6A3_uc002vwr.3_Silent_p.N890N	p.N1297N	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	4176	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1297			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.3891C>T	CCDS33412.1																																																																																				0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
NEU4	129807	broad.mit.edu	37	2	242758284	242758284	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:242758284C>G	ENST00000391969.2	+	5	2076	c.1365C>G	c.(1363-1365)ttC>ttG	p.F455L	NEU4_ENST00000405370.1_Missense_Mutation_p.F455L|NEU4_ENST00000407683.1_Missense_Mutation_p.F455L|NEU4_ENST00000325935.6_Missense_Mutation_p.F468L|NEU4_ENST00000404257.1_Missense_Mutation_p.F467L	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	455					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TTTGTACATTCTCCCTGCGTG	0.642																																						uc002wcp.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(1402-1404)ttC>ttG		Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.							17.0	19.0	18.0					2																	242758284		2004	3984	5988	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242758284C>G	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.1365C>G	2.37:g.242758284C>G	ENSP00000375830:p.Phe455Leu					NEU4_uc010fzr.3_Missense_Mutation_p.F455L|NEU4_uc002wcm.3_Missense_Mutation_p.F455L|NEU4_uc002wco.2_Missense_Mutation_p.F455L|NEU4_uc002wcn.2_Missense_Mutation_p.F467L	p.F468L	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	3	1898	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	455					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.1404C>G	CCDS54442.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721398	0.48728	.	.	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	4.29	3.41	0.39046	Neuraminidase (2);	0.000000	0.85682	D	0.000000	D	0.88130	0.6354	M	0.61703	1.905	0.46701	D	0.999169	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.996	D	0.87738	0.2583	10	0.87932	D	0	-31.6556	9.8551	0.41082	0.0:0.8303:0.0:0.1697	.	467;467;455	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	L	455;455;465;467;455;468	ENSP00000385402:F455L;ENSP00000384804:F455L;ENSP00000385149:F467L;ENSP00000375830:F455L;ENSP00000320318:F468L	ENSP00000320318:F468L	F	+	3	2	NEU4	242406957	1.000000	0.71417	0.850000	0.33497	0.108000	0.19459	3.384000	0.52478	0.914000	0.36822	0.558000	0.71614	TTC		0.642	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741	
RPN2	6185	broad.mit.edu	37	20	35865068	35865068	+	Silent	SNP	G	G	A	rs201803454		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr20:35865068G>A	ENST00000237530.6	+	16	2150	c.1839G>A	c.(1837-1839)acG>acA	p.T613T	RPN2_ENST00000470352.1_3'UTR|RPN2_ENST00000373622.5_Silent_p.T581T	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	613					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GCAGTGTGACGTTTCTGGCTG	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21149	0.0		0.0	False		,,,				2504	0.0					uc002xgp.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(1837-1839)acG>acA		Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.							116.0	96.0	103.0					20																	35865068		2203	4300	6503	SO:0001819	synonymous_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35865068G>A	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1839G>A	20.37:g.35865068G>A						RPN2_uc002xgq.3_Silent_p.T581T	p.T613T	NM_002951	NP_002942	P04844	RPN2_HUMAN			15	2143	+		Myeloproliferative disorder(115;0.00878)	613					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Silent	SNP	ENST00000237530.6	37	c.1839G>A	CCDS13291.1																																																																																				0.532	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951	
TSHZ2	128553	broad.mit.edu	37	20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	rs141167641	byFrequency	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr20:51870661G>A	ENST00000371497.5	+	2	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	TSHZ2_ENST00000329613.6_Missense_Mutation_p.A219T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A219T|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	222					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A222T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562													G|||	4	0.000798722	0.0	0.0	5008	,	,		19301	0.0		0.001	False		,,,				2504	0.0031					uc002xwo.3																			1	Substitution - Missense(1)	p.A222T(2)|p.A222V(1)	ovary(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(664-666)Gcg>Acg		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.							57.0	52.0	53.0					20																	51870661		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870661G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.664G>A	20.37:g.51870661G>A	ENSP00000360552:p.Ala222Thr					TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	p.A222T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	1551	+			222					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.664G>A	CCDS33490.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.9	4.584970	0.86748	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.16073	2.37;2.37	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17715	-1.0360	10	0.66056	D	0.02	-21.8975	19.0899	0.93223	0.0:0.0:1.0:0.0	.	222	Q9NRE2	TSH2_HUMAN	T	222;219	ENSP00000360552:A222T;ENSP00000333114:A219T	ENSP00000333114:A219T	A	+	1	0	TSHZ2	51304068	1.000000	0.71417	0.730000	0.30809	0.640000	0.38277	9.414000	0.97362	2.579000	0.87056	0.643000	0.83706	GCG		0.562	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
INPP5J	27124	broad.mit.edu	37	22	31524557	31524557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:31524557C>T	ENST00000331075.5	+	9	2159	c.2110C>T	c.(2110-2112)Cag>Tag	p.Q704*	INPP5J_ENST00000404453.1_Nonsense_Mutation_p.Q69*|INPP5J_ENST00000402238.1_Nonsense_Mutation_p.Q69*|INPP5J_ENST00000401755.1_Nonsense_Mutation_p.Q69*|INPP5J_ENST00000412277.2_Nonsense_Mutation_p.Q637*|INPP5J_ENST00000400294.2_Nonsense_Mutation_p.Q337*|INPP5J_ENST00000405300.1_Nonsense_Mutation_p.Q337*|INPP5J_ENST00000404390.3_Nonsense_Mutation_p.Q336*	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	704	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCACCGACTCCAGGTGACGCA	0.602																																						uc003aju.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(2110-2112)Cag>Tag		Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.							63.0	73.0	70.0					22																	31524557		2115	4217	6332	SO:0001587	stop_gained	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31524557C>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2110C>T	22.37:g.31524557C>T	ENSP00000333262:p.Gln704*					INPP5J_uc003ajw.3_Nonsense_Mutation_p.Q140*|INPP5J_uc003ajt.4_Nonsense_Mutation_p.Q336*|INPP5J_uc003ajv.4_Nonsense_Mutation_p.Q337*|INPP5J_uc003ajs.4_Nonsense_Mutation_p.Q337*|INPP5J_uc011alk.2_Nonsense_Mutation_p.Q637*|INPP5J_uc010gwg.3_Nonsense_Mutation_p.Q269*	p.Q704*	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN			8	2202	+			704			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Nonsense_Mutation	SNP	ENST00000331075.5	37	c.2110C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.636800	0.98403	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000402238;ENST00000404453;ENST00000401755	.	.	.	5.7	4.68	0.58851	.	0.426895	0.25055	N	0.033494	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	2.8768	0.05634	0.163:0.5395:0.1574:0.1401	.	.	.	.	X	704;637;337;337;336;69;69;69	.	ENSP00000333262:Q704X	Q	+	1	0	INPP5J	29854557	0.004000	0.15560	1.000000	0.80357	0.993000	0.82548	1.110000	0.31147	1.394000	0.46624	0.655000	0.94253	CAG		0.602	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837	
PHF5A	84844	broad.mit.edu	37	22	41863525	41863525	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:41863525C>T	ENST00000216252.3	-	3	241	c.170G>A	c.(169-171)cGc>cAc	p.R57H	ACO2_ENST00000396512.3_5'Flank|PHF5A_ENST00000491254.1_5'UTR|ACO2_ENST00000216254.4_5'Flank	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|U12-type spliceosomal complex (GO:0005689)|U2 snRNP (GO:0005686)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GATCACACAGCGCCCCTGGTA	0.502																																					Ovarian(15;130 571 1826 2981 46141)	uc003bab.3																			0		p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(169-171)cGc>cAc		Homo sapiens PHD finger protein 5A (PHF5A), mRNA.							105.0	85.0	92.0					22																	41863525		2203	4300	6503	SO:0001583	missense	84844				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41863525C>T	BC007321	CCDS14016.1	22q13.2	2014-02-14			ENSG00000100410	ENSG00000100410		"""Zinc fingers, PHD-type"""	18000	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 7"""					12054543, 12234937, 18076038	Standard	NM_032758		Approved	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7	uc003bab.3	Q7RTV0	OTTHUMG00000150966	ENST00000216252.3:c.170G>A	22.37:g.41863525C>T	ENSP00000216252:p.Arg57His					ACO2_uc003bac.3_5'Flank	p.R57H	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN			2	221	-			57					Q9UH06	Missense_Mutation	SNP	ENST00000216252.3	37	c.170G>A	CCDS14016.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782489	0.90282	.	.	ENSG00000100410	ENST00000216252	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.74869	0.3773	M	0.84585	2.705	0.80722	D	1	B	0.27229	0.172	B	0.31245	0.126	T	0.75334	-0.3354	9	0.72032	D	0.01	-18.9427	19.8379	0.96666	0.0:1.0:0.0:0.0	.	57	Q7RTV0	PHF5A_HUMAN	H	57	.	ENSP00000216252:R57H	R	-	2	0	PHF5A	40193471	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.568000	0.82369	2.765000	0.95021	0.655000	0.94253	CGC		0.502	PHF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320686.1	NM_032758	
NAGA	4668	broad.mit.edu	37	22	42456400	42456400	+	Silent	SNP	T	T	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:42456400T>G	ENST00000396398.3	-	9	1651	c.1119A>C	c.(1117-1119)tcA>tcC	p.S373S	NAGA_ENST00000403363.1_Silent_p.S373S|NAGA_ENST00000402937.1_Silent_p.S373S	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	373					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGATGTCACCTGAGTAGACGT	0.557																																						uc003bbw.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1117-1119)tcA>tcC		Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.							161.0	143.0	149.0					22																	42456400		2203	4300	6503	SO:0001819	synonymous_variant	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42456400T>G		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.1119A>C	22.37:g.42456400T>G							p.S373S	NM_000262	NP_000253	P17050	NAGAB_HUMAN			8	1664	-			373						Silent	SNP	ENST00000396398.3	37	c.1119A>C	CCDS14030.1																																																																																				0.557	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1		
ATP2B2	491	broad.mit.edu	37	3	10413708	10413708	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:10413708G>A	ENST00000352432.4	-	11	1513	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	ATP2B2_ENST00000360273.2_Missense_Mutation_p.R482C|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R437C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R437C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R468C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	482					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCCAGGTGGCGTACCAGGTTG	0.587																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1444-1446)Cgc>Tgc		Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.							149.0	128.0	135.0					3																	10413708		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10413708G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1444C>T	3.37:g.10413708G>A	ENSP00000324172:p.Arg482Cys					ATP2B2_uc003bvv.3_Missense_Mutation_p.R437C|ATP2B2_uc003bvw.3_Missense_Mutation_p.R437C|ATP2B2_uc010hdo.3_Missense_Mutation_p.R187C	p.R482C	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			11	1883	-			482					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1444C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358514	0.82243	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	4.71	4.71	0.59529	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97377	0.9142	H	0.98542	4.26	0.80722	D	1	D;D;D	0.89917	0.984;1.0;0.999	P;D;D	0.81914	0.525;0.995;0.987	D	0.99194	1.0871	10	0.87932	D	0	-11.8364	17.8684	0.88803	0.0:0.0:1.0:0.0	.	417;449;482	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	C	482;437;437;482;468;417;338;482	ENSP00000324172:R482C;ENSP00000373311:R437C;ENSP00000380267:R437C;ENSP00000353414:R482C;ENSP00000344677:R468C;ENSP00000414854:R338C	ENSP00000342954:R482C	R	-	1	0	ATP2B2	10388708	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	6.466000	0.73543	2.443000	0.82685	0.655000	0.94253	CGC		0.587	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
RRP9	9136	broad.mit.edu	37	3	51969702	51969702	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:51969702C>T	ENST00000232888.6	-	9	815	c.742G>A	c.(742-744)Gca>Aca	p.A248T		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	248					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CTGCGGAATGCCAGACCCTAA	0.592																																						uc003dbw.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21						c.(742-744)Gca>Aca		Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.							166.0	126.0	139.0					3																	51969702		2203	4300	6503	SO:0001583	missense	9136				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	g.chr3:51969702C>T	AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"""WD repeat domain containing"""	16829	protein-coding gene	gene with protein product			"""RNA, U3 small nucleolar interacting protein 2"""	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.742G>A	3.37:g.51969702C>T	ENSP00000232888:p.Ala248Thr						p.A248T	NM_004704	NP_004695	O43818	U3IP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)	8	781	-			248					B2R996|Q8IZ30	Missense_Mutation	SNP	ENST00000232888.6	37	c.742G>A	CCDS2837.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928231	0.73327	.	.	ENSG00000114767	ENST00000232888	T	0.63744	-0.06	4.67	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.118164	0.64402	D	0.000020	T	0.60869	0.2302	L	0.58354	1.805	0.43965	D	0.996642	B	0.27997	0.197	B	0.37144	0.242	T	0.60239	-0.7302	10	0.37606	T	0.19	-20.9536	10.5936	0.45325	0.2471:0.7529:0.0:0.0	.	248	O43818	U3IP2_HUMAN	T	248	ENSP00000232888:A248T	ENSP00000232888:A248T	A	-	1	0	RRP9	51944742	1.000000	0.71417	0.988000	0.46212	0.788000	0.44548	4.874000	0.63064	2.166000	0.68216	0.561000	0.74099	GCA		0.592	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1	NM_004704	
RETNLB	84666	broad.mit.edu	37	3	108474644	108474644	+	Missense_Mutation	SNP	C	C	T	rs370708969		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:108474644C>T	ENST00000295755.6	-	3	515	c.317G>A	c.(316-318)cGc>cAc	p.R106H	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	106					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTGGCAGCAGCGGGCAGTGGT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18133	0.0		0.0	False		,,,				2504	0.001					uc003dxh.2																			0				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						c.(316-318)cGc>cAc		Homo sapiens resistin like beta (RETNLB), mRNA.							97.0	93.0	94.0					3																	108474644		2203	4300	6503	SO:0001583	missense	84666				cell proliferation	extracellular region	hormone activity	g.chr3:108474644C>T	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.317G>A	3.37:g.108474644C>T	ENSP00000295755:p.Arg106His						p.R106H	NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN			2	415	-			106					Q14D27	Missense_Mutation	SNP	ENST00000295755.6	37	c.317G>A	CCDS2953.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719611	0.30503	.	.	ENSG00000163515	ENST00000295755	T	0.52057	0.68	4.3	-0.666	0.11399	.	0.288359	0.24909	N	0.034638	T	0.61476	0.2350	M	0.73598	2.24	0.18873	N	0.999983	D	0.89917	1.0	D	0.87578	0.998	T	0.54091	-0.8345	10	0.87932	D	0	-11.9276	7.6062	0.28103	0.0:0.5061:0.0:0.4939	.	106	Q9BQ08	RETNB_HUMAN	H	106	ENSP00000295755:R106H	ENSP00000295755:R106H	R	-	2	0	RETNLB	109957334	0.998000	0.40836	0.087000	0.20705	0.144000	0.21451	0.322000	0.19576	-0.391000	0.07763	-0.736000	0.03550	CGC		0.552	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1		
SEC62	7095	broad.mit.edu	37	3	169694809	169694809	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:169694809C>A	ENST00000337002.4	+	3	279	c.221C>A	c.(220-222)aCc>aAc	p.T74N	SEC62_ENST00000480708.1_Missense_Mutation_p.T74N|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	74					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TTATTTACAACCAGGGAGTCT	0.348																																						uc003fgg.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(220-222)aCc>aAc		Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA.							81.0	82.0	82.0					3																	169694809		2203	4300	6503	SO:0001583	missense	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169694809C>A	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.221C>A	3.37:g.169694809C>A	ENSP00000337688:p.Thr74Asn					SEC62_uc003fgh.3_Missense_Mutation_p.T74N	p.T74N	NM_003262	NP_003253	Q99442	SEC62_HUMAN			2	252	+			74					D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	c.221C>A	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431992	0.62844	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	T;T	0.11821	2.74;2.74	5.57	5.57	0.84162	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.047602	0.85682	D	0.000000	T	0.28896	0.0717	L	0.56769	1.78	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.04708	-1.0932	10	0.02654	T	1	-7.6077	16.4603	0.84033	0.0:1.0:0.0:0.0	.	74	Q99442	SEC62_HUMAN	N	74	ENSP00000337688:T74N;ENSP00000420331:T74N	ENSP00000337688:T74N	T	+	2	0	SEC62	171177503	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.192000	0.42649	2.624000	0.88883	0.484000	0.47621	ACC		0.348	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1		
DKK2	27123	broad.mit.edu	37	4	107846994	107846994	+	Missense_Mutation	SNP	C	C	T	rs370095806		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr4:107846994C>T	ENST00000285311.3	-	2	1040	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	DKK2_ENST00000513208.1_Missense_Mutation_p.R12Q|DKK2_ENST00000510463.1_Missense_Mutation_p.R66Q	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	112	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CATGCCATCTCGGTGGCAGCG	0.498																																						uc003hyi.3																			0		p.R112*(1)|p.R112G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(334-336)cGa>cAa		Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.		C	GLN/ARG	0,4406		0,0,2203	173.0	159.0	164.0		335	5.4	0.9	4		164	1,8599	1.2+/-3.3	0,1,4299	no	missense	DKK2	NM_014421.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	112/260	107846994	1,13005	2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107846994C>T	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.335G>A	4.37:g.107846994C>T	ENSP00000285311:p.Arg112Gln					DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.R112Q	p.R112Q	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	1	1040	-		Hepatocellular(203;0.217)	112			DKK-type Cys-1.		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.335G>A	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743262	0.96873	0.0	1.16E-4	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.60424	0.19;0.44;0.34	5.42	5.42	0.78866	Dickkopf, N-terminal cysteine-rich (1);	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.79011	2.435	0.58432	D	0.999996	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.988	T	0.79992	-0.1569	10	0.72032	D	0.01	-15.7364	19.5778	0.95452	0.0:1.0:0.0:0.0	.	112;112	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	Q	112;12;66	ENSP00000285311:R112Q;ENSP00000421255:R12Q;ENSP00000423797:R66Q	ENSP00000285311:R112Q	R	-	2	0	DKK2	108066443	1.000000	0.71417	0.917000	0.36280	0.983000	0.72400	7.410000	0.80065	2.704000	0.92352	0.467000	0.42956	CGA		0.498	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4		
SH3RF2	153769	broad.mit.edu	37	5	145393517	145393517	+	Missense_Mutation	SNP	C	C	T	rs563187260	byFrequency	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr5:145393517C>T	ENST00000511217.1	+	4	1004	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	SH3RF2_ENST00000359120.4_Missense_Mutation_p.R318C			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	318					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)	p.R318C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTTCAGGGCGCCATATGGT	0.577													C|||	10	0.00199681	0.0	0.0	5008	,	,		20277	0.0		0.0	False		,,,				2504	0.0102					uc003lnt.3																			1	Substitution - Missense(1)	p.R318C(2)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(952-954)Cgc>Tgc		Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.							118.0	114.0	115.0					5																	145393517		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393517C>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.952C>T	5.37:g.145393517C>T	ENSP00000424497:p.Arg318Cys					SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C	p.R318C	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	1190	+			318					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.952C>T	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564879	0.86439	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.09073	3.02;3.02	5.47	5.47	0.80525	.	0.149558	0.48286	D	0.000192	T	0.12347	0.0300	N	0.19112	0.55	0.49130	D	0.999757	D	0.71674	0.998	P	0.51170	0.661	T	0.02378	-1.1168	10	0.87932	D	0	-13.6685	19.6825	0.95970	0.0:1.0:0.0:0.0	.	318	Q8TEC5	SH3R2_HUMAN	C	318	ENSP00000352028:R318C;ENSP00000424497:R318C	ENSP00000352028:R318C	R	+	1	0	SH3RF2	145373710	1.000000	0.71417	0.908000	0.35775	0.916000	0.54674	3.642000	0.54367	2.727000	0.93392	0.591000	0.81541	CGC		0.577	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550	
OR14J1	442191	broad.mit.edu	37	6	29275286	29275286	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:29275286G>A	ENST00000377160.2	+	1	884	c.820G>A	c.(820-822)Gta>Ata	p.V274I		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TGTATTCTCCGTATTCTATAC	0.443																																						uc011dln.2																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						c.(820-822)Gta>Ata		Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.							149.0	143.0	145.0					6																	29275286		1511	2709	4220	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29275286G>A		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.820G>A	6.37:g.29275286G>A	ENSP00000366365:p.Val274Ile						p.V274I	NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN			0	820	+			274					A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.820G>A	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	G	6.448	0.450791	0.12223	.	.	ENSG00000204695	ENST00000377160	T	0.00249	8.44	4.86	1.11	0.20524	GPCR, rhodopsin-like superfamily (1);	0.311882	0.22416	N	0.060360	T	0.00039	0.0001	L	0.28115	0.83	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.49360	-0.8948	10	0.42905	T	0.14	.	0.8859	0.01244	0.454:0.1278:0.2472:0.171	.	274	Q9UGF5	O14J1_HUMAN	I	274	ENSP00000366365:V274I	ENSP00000366365:V274I	V	+	1	0	OR14J1	29383265	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.446000	0.06837	0.106000	0.17784	-1.027000	0.02421	GTA		0.443	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2		
HLA-DOA	3111	broad.mit.edu	37	6	32975995	32975995	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:32975995G>A	ENST00000229829.5	-	2	201	c.126C>T	c.(124-126)taC>taT	p.Y42Y	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Silent_p.Y12Y	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	42	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCGAGGCGCCGTAAGACTGGT	0.542																																						uc003ocr.3																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(124-126)taC>taT		Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.							49.0	48.0	48.0					6																	32975995		1510	2707	4217	SO:0001819	synonymous_variant	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32975995G>A	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.126C>T	6.37:g.32975995G>A						HLA-DOA_uc010juj.3_Silent_p.Y12Y|HLA-DOA_uc010jui.3_Silent_p.Y42Y	p.Y42Y	NM_002119	NP_002110	P06340	DOA_HUMAN			1	202	-			42			Alpha-1.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	c.126C>T	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	G	4.375	0.069168	0.08436	.	.	ENSG00000204252	ENST00000432150	.	.	.	4.4	-0.726	0.11170	.	.	.	.	.	T	0.48059	0.1479	.	.	.	0.40338	D	0.979	.	.	.	.	.	.	T	0.54728	-0.8250	5	0.87932	D	0	.	7.5743	0.27926	0.6797:0.0:0.3203:0.0	.	.	.	.	M	42	.	ENSP00000412819:T42M	T	-	2	0	HLA-DOA	33083973	0.000000	0.05858	0.374000	0.26016	0.494000	0.33585	-0.472000	0.06623	-0.047000	0.13423	0.650000	0.86243	ACG		0.542	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119	
CUL9	23113	broad.mit.edu	37	6	43163923	43163923	+	Silent	SNP	C	C	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:43163923C>A	ENST00000252050.4	+	10	2589	c.2505C>A	c.(2503-2505)atC>atA	p.I835I	CUL9_ENST00000372647.2_Silent_p.I835I|CUL9_ENST00000354495.3_Silent_p.I725I	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	835					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCGCCAGCATCGACTCAGCCA	0.567																																						uc003ouk.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(2503-2505)atC>atA		Homo sapiens cullin 9 (CUL9), mRNA.							79.0	75.0	76.0					6																	43163923		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43163923C>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2505C>A	6.37:g.43163923C>A						CUL9_uc003oul.3_Silent_p.I835I|CUL9_uc010jyk.3_5'UTR	p.I835I	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			9	2580	+			835					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.2505C>A	CCDS4890.1																																																																																				0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
CRISP3	10321	broad.mit.edu	37	6	49696554	49696554	+	Silent	SNP	G	G	A	rs374288697	byFrequency	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:49696554G>A	ENST00000393666.1	-	7	633	c.627C>T	c.(625-627)taC>taT	p.Y209Y	CRISP3_ENST00000423399.2_Silent_p.Y119Y|CRISP3_ENST00000433368.2_Silent_p.Y232Y|CRISP3_ENST00000371159.4_Silent_p.Y240Y|CRISP3_ENST00000263045.4_Silent_p.Y222Y			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	209	ShKT. {ECO:0000255|PROSITE- ProRule:PRU01005}.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AGAGATCTTCGTACTTGCAAC	0.358													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17520	0.0		0.0	False		,,,				2504	0.001					uc021zai.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27						c.(694-696)taC>taT		Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	127.0	118.0	121.0		696,666	-2.6	0.0	6		121	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CRISP3	NM_001190986.1,NM_006061.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	232/269,222/259	49696554	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49696554G>A	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.627C>T	6.37:g.49696554G>A						CRISP3_uc003ozs.3_Silent_p.Y222Y	p.Y232Y	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		7	784	-	Lung NSC(77;0.0161)		209					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Silent	SNP	ENST00000393666.1	37	c.696C>T																																																																																					0.358	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061	
ORC3	23595	broad.mit.edu	37	6	88318866	88318866	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:88318866A>T	ENST00000392844.3	+	7	680	c.632A>T	c.(631-633)cAg>cTg	p.Q211L	ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000417380.2_Missense_Mutation_p.Q158L|ORC3_ENST00000546266.1_Missense_Mutation_p.Q68L|ORC3_ENST00000257789.4_Missense_Mutation_p.Q211L	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	211					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AGCCAATGGCAGTCTCCTCCT	0.398																																						uc003pmg.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(631-633)cAg>cTg		Homo sapiens origin recognition complex, subunit 3 (ORC3), transcript variant 1, mRNA.							115.0	109.0	111.0					6																	88318866		2203	4300	6503	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88318866A>T	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.632A>T	6.37:g.88318866A>T	ENSP00000376586:p.Gln211Leu					ORC3_uc011dzl.2_Missense_Mutation_p.Q211L|ORC3_uc011dzm.2_Missense_Mutation_p.Q211L|ORC3_uc011dzn.2_Non-coding_Transcript|ORC3_uc003pmh.3_Missense_Mutation_p.Q211L|ORC3_uc011dzp.2_Missense_Mutation_p.Q68L|ORC3_uc011dzo.2_Missense_Mutation_p.Q68L	p.Q211L	NM_181837	NP_862820	Q9UBD5	ORC3_HUMAN			6	734	+			211					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.632A>T	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.898538	0.33535	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266;ENST00000417380	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.21	-0.686	0.11324	.	0.422243	0.28088	N	0.016643	T	0.08758	0.0217	M	0.66939	2.045	0.35791	D	0.822372	B;P;B;B;B	0.34615	0.018;0.459;0.007;0.25;0.21	B;B;B;B;B	0.43701	0.086;0.428;0.016;0.122;0.208	T	0.15809	-1.0424	10	0.29301	T	0.29	0.5056	3.7406	0.08528	0.5854:0.1969:0.121:0.0967	.	211;211;149;211;211	B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2	.;.;.;ORC3_HUMAN;.	L	211;211;68;158	ENSP00000376586:Q211L;ENSP00000257789:Q211L;ENSP00000444695:Q68L;ENSP00000390176:Q158L	ENSP00000257789:Q211L	Q	+	2	0	ORC3	88375585	0.987000	0.35691	0.732000	0.30844	0.687000	0.40016	2.576000	0.46033	-0.216000	0.10048	-1.533000	0.00918	CAG		0.398	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2		
ARID1B	57492	broad.mit.edu	37	6	157522507	157522507	+	Silent	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:157522507C>T	ENST00000350026.5	+	17	4741	c.4740C>T	c.(4738-4740)acC>acT	p.T1580T	ARID1B_ENST00000367148.1_Silent_p.T1633T|ARID1B_ENST00000346085.5_Silent_p.T1593T|ARID1B_ENST00000275248.4_Silent_p.T1575T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1580	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCAGGTCACCGGGCCACCAC	0.547																																						uc003qqp.3																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4738-4740)acC>acT		Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.							117.0	110.0	112.0					6																	157522507		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522507C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4740C>T	6.37:g.157522507C>T						ARID1B_uc003qqo.3_Silent_p.T1593T|ARID1B_uc003qqn.3_Silent_p.T1633T	p.T1580T	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	16	4740	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1580			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.4740C>T	CCDS5251.2																																																																																				0.547	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
OSBPL3	26031	broad.mit.edu	37	7	24874215	24874215	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:24874215G>A	ENST00000313367.2	-	15	2087	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S	OSBPL3_ENST00000431825.2_Missense_Mutation_p.P479S|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P479S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P515S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P515S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	546					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AGCTCCACCGGCATGGCCACC	0.632																																						uc003sxf.3																			0		p.P546P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1636-1638)Ccg>Tcg		Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.							90.0	75.0	80.0					7																	24874215		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24874215G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1636C>T	7.37:g.24874215G>A	ENSP00000315410:p.Pro546Ser					OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.P510S|OSBPL3_uc003sxh.3_Missense_Mutation_p.P515S|OSBPL3_uc003sxi.3_Missense_Mutation_p.P479S|OSBPL3_uc003sxj.1_Missense_Mutation_p.P275S|OSBPL3_uc003sxk.1_Missense_Mutation_p.P244S	p.P546S	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			14	2041	-			546					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1636C>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311061	0.95629	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	H	0.98525	4.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0	D	0.95382	0.8474	10	0.87932	D	0	-19.2119	20.1699	0.98157	0.0:0.0:1.0:0.0	.	479;510;479;515;510;546	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	S	546;515;510;479;515;510;479	ENSP00000315410:P546S;ENSP00000315331:P515S;ENSP00000315277:P510S;ENSP00000389779:P479S;ENSP00000379708:P515S;ENSP00000379706:P510S;ENSP00000386953:P479S	ENSP00000315410:P546S	P	-	1	0	OSBPL3	24840740	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.799000	0.99117	2.775000	0.95449	0.467000	0.42956	CCG		0.632	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2		
NSUN5	55695	broad.mit.edu	37	7	72721702	72721702	+	Missense_Mutation	SNP	C	C	T	rs373433551		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:72721702C>T	ENST00000252594.6	-	3	284	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	NSUN5_ENST00000310326.8_Missense_Mutation_p.R90Q|NSUN5_ENST00000428206.1_Intron|NSUN5_ENST00000438747.2_Missense_Mutation_p.R90Q			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	90					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				AGCCTTCCATCGGCCCCCACC	0.552																																						uc003txw.3																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(268-270)cGa>cAa		Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG,	1,4403		0,1,2201	35.0	32.0	33.0		269,269,269,	3.3	1.0	7		33	5,8595		0,5,4295	no	missense,missense,missense,intron	NSUN5	NM_001168347.1,NM_018044.3,NM_148956.2,NM_001168348.1	43,43,43,	0,6,6496	TT,TC,CC		0.0581,0.0227,0.0461	possibly-damaging,possibly-damaging,possibly-damaging,	90/471,90/430,90/467,	72721702	6,12998	2202	4300	6502	SO:0001583	missense	55695						methyltransferase activity	g.chr7:72721702C>T	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.269G>A	7.37:g.72721702C>T	ENSP00000252594:p.Arg90Gln					FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.R90Q|NSUN5_uc003txv.3_Missense_Mutation_p.R90Q|NSUN5_uc003txx.3_Intron	p.R90Q	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN			2	346	-		Lung NSC(55;0.163)	90					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	c.269G>A	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508684	0.44660	2.27E-4	5.81E-4	ENSG00000130305	ENST00000252594;ENST00000438747;ENST00000310326	T;T;T	0.13657	2.57;2.78;2.79	4.18	3.3	0.37823	.	0.400478	0.26170	N	0.025923	T	0.10551	0.0258	L	0.49640	1.575	0.28867	N	0.89518	P;P;P	0.42078	0.653;0.77;0.51	B;B;B	0.29942	0.057;0.057;0.109	T	0.11179	-1.0598	9	.	.	.	.	11.0359	0.47799	0.0:0.9089:0.0:0.0911	.	90;90;90	B4DP79;Q96P11;Q96P11-2	.;NSUN5_HUMAN;.	Q	90	ENSP00000252594:R90Q;ENSP00000388464:R90Q;ENSP00000309126:R90Q	.	R	-	2	0	NSUN5	72359638	0.983000	0.35010	0.978000	0.43139	0.974000	0.67602	3.564000	0.53791	0.980000	0.38523	0.485000	0.47835	CGA		0.552	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956	
ABCB4	5244	broad.mit.edu	37	7	87079357	87079357	+	Missense_Mutation	SNP	C	C	T	rs147998447	byFrequency	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:87079357C>T	ENST00000265723.4	-	8	871	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	ABCB4_ENST00000359206.3_Missense_Mutation_p.A254T|ABCB4_ENST00000358400.3_Missense_Mutation_p.A254T|ABCB4_ENST00000545634.1_Missense_Mutation_p.A254T|ABCB4_ENST00000453593.1_Missense_Mutation_p.A254T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	254	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TCTGCCACGGCGCCTGCTTTT	0.478													c|||	4	0.000798722	0.003	0.0	5008	,	,		17800	0.0		0.0	False		,,,				2504	0.0					uc003uiv.1																			0		p.A254A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(760-762)Gcc>Acc		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.		C	THR/ALA,THR/ALA,THR/ALA	3,4403	6.2+/-15.9	0,3,2200	93.0	87.0	89.0		760,760,760	5.8	0.7	7	dbSNP_134	89	0,8600		0,0,4300	yes	missense,missense,missense	ABCB4	NM_000443.3,NM_018849.2,NM_018850.2	58,58,58	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging	254/1280,254/1287,254/1233	87079357	3,13003	2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87079357C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.760G>A	7.37:g.87079357C>T	ENSP00000265723:p.Ala254Thr					ABCB4_uc003uiw.1_Missense_Mutation_p.A254T|ABCB4_uc003uix.1_Missense_Mutation_p.A254T	p.A254T	NM_018849	NP_061337	P21439	MDR3_HUMAN			7	836	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		254			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.760G>A	CCDS5606.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	32	5.126637	0.94429	6.81E-4	0.0	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	5.75	5.75	0.90469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	L	0.49571	1.57	0.80722	D	1	P;D;D	0.76494	0.953;0.998;0.999	P;P;D	0.66084	0.563;0.903;0.941	D	0.92650	0.6132	10	0.48119	T	0.1	-11.2401	15.5329	0.75977	0.1387:0.8613:0.0:0.0	.	254;254;254	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	T	254	ENSP00000352135:A254T;ENSP00000351172:A254T;ENSP00000265723:A254T;ENSP00000392983:A254T;ENSP00000437465:A254T	ENSP00000265723:A254T	A	-	1	0	ABCB4	86917293	1.000000	0.71417	0.743000	0.31040	0.960000	0.62799	4.709000	0.61867	2.711000	0.92665	0.591000	0.81541	GCC		0.478	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
ORAI2	80228	broad.mit.edu	37	7	102086975	102086975	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:102086975G>A	ENST00000356387.2	+	4	476	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	ORAI2_ENST00000478730.2_Missense_Mutation_p.V81M|ORAI2_ENST00000403646.3_Missense_Mutation_p.V81M|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Missense_Mutation_p.V81M	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	81						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CATGGTGGAGGTGCAGCTGGA	0.677																																						uc010lhz.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(241-243)Gtg>Atg		Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.							33.0	32.0	33.0					7																	102086975		2203	4300	6503	SO:0001583	missense	80228					integral to membrane	protein binding	g.chr7:102086975G>A	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"""ORAI calcium release-activated calcium modulators"""	21667	protein-coding gene	gene with protein product	"""CAP-binding protein complex interacting protein 2"""	610929	"""chromosome 7 open reading frame 19"", ""transmembrane protein 142B"""	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.241G>A	7.37:g.102086975G>A	ENSP00000348752:p.Val81Met					ORAI2_uc003uzj.2_Missense_Mutation_p.V81M|ORAI2_uc003uzk.2_Missense_Mutation_p.V81M|ORAI2_uc011kks.1_Missense_Mutation_p.V4M	p.V81M	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN			3	476	+			81					Q6IA68|Q8WY94|Q9H9Y3	Missense_Mutation	SNP	ENST00000356387.2	37	c.241G>A	CCDS5722.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486155	0.84854	.	.	ENSG00000160991	ENST00000495936;ENST00000356387;ENST00000478730;ENST00000468241;ENST00000403646;ENST00000498661;ENST00000473939	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.72972	-0.4129	10	0.59425	D	0.04	-3.4657	17.0058	0.86392	0.0:0.0:1.0:0.0	.	81	Q96SN7	ORAI2_HUMAN	M	81	ENSP00000420178:V81M;ENSP00000348752:V81M;ENSP00000418140:V81M;ENSP00000417407:V81M;ENSP00000385489:V81M;ENSP00000418464:V81M;ENSP00000417928:V81M	ENSP00000348752:V81M	V	+	1	0	ORAI2	101873980	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.657000	0.98554	2.492000	0.84095	0.561000	0.74099	GTG		0.677	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831	
SLC26A3	1811	broad.mit.edu	37	7	107431671	107431671	+	Missense_Mutation	SNP	G	G	A	rs386833482|rs386833481		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:107431671G>A	ENST00000340010.5	-	5	576	c.392C>T	c.(391-393)cCg>cTg	p.P131L	SLC26A3_ENST00000422236.2_Missense_Mutation_p.P96L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	131			P -> L (in DIAR1). {ECO:0000269|PubMed:21394828}.|P -> R (in DIAR1). {ECO:0000269|PubMed:9554749, ECO:0000269|PubMed:9718329}.		anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACTCAGAATCGGAAACGGACC	0.428																																						uc003ver.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	GRCh37	CM980571	SLC26A3	M		c.(391-393)cCg>cTg		Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.							175.0	158.0	164.0					7																	107431671		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107431671G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.392C>T	7.37:g.107431671G>A	ENSP00000345873:p.Pro131Leu					SLC26A3_uc003ves.2_Missense_Mutation_p.P96L	p.P131L	NM_000111	NP_000102	P40879	S26A3_HUMAN			4	603	-			131		P -> R (in DIAR1).				Missense_Mutation	SNP	ENST00000340010.5	37	c.392C>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689766	0.88735	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.91180	-2.8;-2.8	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96318	0.8799	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96450	0.9333	10	0.72032	D	0.01	.	19.8045	0.96525	0.0:0.0:1.0:0.0	.	96;131	G5E9U3;P40879	.;S26A3_HUMAN	L	96;131	ENSP00000415817:P96L;ENSP00000345873:P131L	ENSP00000345873:P131L	P	-	2	0	SLC26A3	107218907	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	8.533000	0.90617	2.694000	0.91930	0.585000	0.79938	CCG		0.428	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111	
EZH2	2146	broad.mit.edu	37	7	148515006	148515009	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:148515006_148515009delTTCT	ENST00000460911.1	-	10	1273_1276	c.1185_1188delAGAA	c.(1183-1188)aaagaafs	p.KE395fs	EZH2_ENST00000483967.1_Frame_Shift_Del_p.KE386fs|EZH2_ENST00000476773.1_Frame_Shift_Del_p.KE386fs|EZH2_ENST00000541220.1_Frame_Shift_Del_p.KE386fs|EZH2_ENST00000350995.2_Frame_Shift_Del_p.KE356fs|EZH2_ENST00000320356.2_Frame_Shift_Del_p.KE400fs|EZH2_ENST00000478654.1_Frame_Shift_Del_p.KE386fs			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	395	Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.E401fs*22(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTCTTCTTCTTCTTTATCATTGT	0.456			Mis		DLBCL																																	uc003wfd.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		1	Deletion - Frameshift(1)	p.E401fs*22(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(1183-1188)aaagaafs		Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.																																				SO:0001589	frameshift_variant	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148515006_148515009delTTCT		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1185_1188delAGAA	7.37:g.148515006_148515009delTTCT	ENSP00000419711:p.Lys395fs					EZH2_uc022aov.1_Frame_Shift_Del_p.K356fs|EZH2_uc011kug.2_Frame_Shift_Del_p.K386fs|EZH2_uc003wfb.2_Frame_Shift_Del_p.K400fs|EZH2_uc003wfc.2_Frame_Shift_Del_p.K356fs|EZH2_uc011kuh.2_Frame_Shift_Del_p.K386fs|EZH2_uc011kui.2_Frame_Shift_Del_p.K395fs|EZH2_uc011kuj.2_Non-coding_Transcript	p.K395fs	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		9	1378_1381	-	Melanoma(164;0.15)		395					B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Frame_Shift_Del	DEL	ENST00000460911.1	37	c.1185_1188delAGAA	CCDS56516.1																																																																																				0.456	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456	
BMP1	649	broad.mit.edu	37	8	22069181	22069181	+	Silent	SNP	A	A	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:22069181A>G	ENST00000306385.5	+	20	3571	c.2901A>G	c.(2899-2901)aaA>aaG	p.K967K	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	967	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCACCAAAAAAGGTTTCCACC	0.577																																						uc003xbg.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2899-2901)aaA>aaG		Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.							138.0	115.0	123.0					8																	22069181		2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22069181A>G		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2901A>G	8.37:g.22069181A>G						BMP1_uc011kzc.2_Silent_p.K716K|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	p.K967K	NM_006129	NP_006120	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	19	3167	+			967			CUB 5.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.2901A>G	CCDS6026.1																																																																																				0.577	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132	
EYA1	2138	broad.mit.edu	37	8	72156896	72156896	+	Missense_Mutation	SNP	C	C	A	rs145219836		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:72156896C>A	ENST00000340726.3	-	12	1721	c.1082G>T	c.(1081-1083)cGa>cTa	p.R361L	EYA1_ENST00000388740.3_Missense_Mutation_p.R328L|EYA1_ENST00000388742.4_Missense_Mutation_p.R361L|EYA1_ENST00000303824.7_Missense_Mutation_p.R355L|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388741.2_Missense_Mutation_p.R327L|EYA1_ENST00000388743.2_Missense_Mutation_p.R360L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	361					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.R361L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCTTCCATTCGCAGTCCAAG	0.323																																						uc003xyu.3																			1	Substitution - Missense(1)	p.R361L(2)	central_nervous_system(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1081-1083)cGa>cTa		Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.							62.0	61.0	62.0					8																	72156896		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72156896C>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1082G>T	8.37:g.72156896C>A	ENSP00000342626:p.Arg361Leu					EYA1_uc003xyt.4_Missense_Mutation_p.R328L|EYA1_uc003xyr.4_Intron|EYA1_uc010lzf.3_Missense_Mutation_p.R288L|EYA1_uc003xys.4_Missense_Mutation_p.R361L|EYA1_uc011lfe.2_Missense_Mutation_p.R355L|EYA1_uc003xyv.3_Missense_Mutation_p.R239L	p.R361L	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		11	1722	-	Breast(64;0.046)		361					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1082G>T	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	35	5.417539	0.96092	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743	D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.64	5.64	0.86602	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.065881	0.64402	D	0.000003	D	0.90003	0.6879	M	0.80332	2.49	0.80722	D	1	P;P;P;P	0.47350	0.712;0.798;0.894;0.712	B;P;P;B	0.54664	0.257;0.693;0.758;0.257	D	0.89589	0.3826	10	0.48119	T	0.1	-11.7108	19.7123	0.96100	0.0:1.0:0.0:0.0	.	355;288;328;361	A6NCB9;Q0P517;Q99502-2;Q99502	.;.;.;EYA1_HUMAN	L	361;361;329;328;355;327;360	ENSP00000373394:R361L;ENSP00000342626:R361L;ENSP00000373392:R328L;ENSP00000303221:R355L;ENSP00000373393:R327L;ENSP00000373395:R360L	ENSP00000303221:R355L	R	-	2	0	EYA1	72319450	1.000000	0.71417	0.944000	0.38274	0.990000	0.78478	7.741000	0.84997	2.664000	0.90586	0.650000	0.86243	CGA		0.323	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060	
DECR1	1666	broad.mit.edu	37	8	91031335	91031335	+	Missense_Mutation	SNP	G	G	A	rs202215448		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:91031335G>A	ENST00000220764.2	+	4	440	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	DECR1_ENST00000522161.1_Missense_Mutation_p.V109M|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	118					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCAGTGTGATGTGAGGGATCC	0.363																																						uc003yek.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(352-354)Gtg>Atg		Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.		G	MET/VAL	0,4406		0,0,2203	172.0	150.0	157.0		352	4.4	1.0	8		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	DECR1	NM_001359.1	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	118/336	91031335	1,13005	2203	4300	6503	SO:0001583	missense	1666				fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	g.chr8:91031335G>A	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.352G>A	8.37:g.91031335G>A	ENSP00000220764:p.Val118Met					DECR1_uc011lgc.1_Missense_Mutation_p.V109M|DECR1_uc011lgd.1_Non-coding_Transcript	p.V118M	NM_001359	NP_001350	Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		3	493	+			118					B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	ENST00000220764.2	37	c.352G>A	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340890	0.81911	0.0	1.16E-4	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761;ENST00000520227	T;D;T;D;D	0.90900	1.5;-2.75;1.5;-2.75;-2.75	6.17	4.4	0.53042	NAD(P)-binding domain (1);	0.058055	0.64402	D	0.000002	D	0.96340	0.8806	H	0.94808	3.585	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.73380	0.974;0.98	D	0.96711	0.9525	10	0.87932	D	0	.	13.4192	0.60987	0.1269:0.0:0.8731:0.0	.	109;118	B7Z6B8;Q16698	.;DECR_HUMAN	M	118;96;109;109;68	ENSP00000220764:V118M;ENSP00000430561:V96M;ENSP00000429779:V109M;ENSP00000427936:V109M;ENSP00000429096:V68M	ENSP00000220764:V118M	V	+	1	0	DECR1	91100511	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	5.117000	0.64667	0.948000	0.37687	-0.137000	0.14449	GTG		0.363	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1		
AQP7	364	broad.mit.edu	37	9	33385656	33385656	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr9:33385656T>A	ENST00000537089.1	-	6	776	c.458A>T	c.(457-459)cAg>cTg	p.Q153L	AQP7_ENST00000541274.1_Silent_p.T113T|AQP7_ENST00000539936.1_Missense_Mutation_p.Q245L|AQP7_ENST00000377425.4_Missense_Mutation_p.Q188L			O14520	AQP7_HUMAN	aquaporin 7	245					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.Q245L(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCTGAAGACCTGTTTGCCCCA	0.597																																						uc003zst.3																			1	Substitution - Missense(1)	p.Q245L(2)	lung(1)	NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(733-735)cAg>cTg		Homo sapiens aquaporin 7 (AQP7), mRNA.							64.0	72.0	69.0					9																	33385656		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385656T>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.458A>T	9.37:g.33385656T>A	ENSP00000441619:p.Gln153Leu					AQP7_uc003zsu.1_Missense_Mutation_p.Q188L|AQP7_uc010mjs.2_Missense_Mutation_p.Q153L|AQP7_uc010mjt.2_Missense_Mutation_p.Q153L|AQP7_uc011lny.1_Missense_Mutation_p.Q244L|AQP7_uc003zss.3_Missense_Mutation_p.Q153L|AQP7_uc011lnz.1_Missense_Mutation_p.Q153L|AQP7_uc011loa.1_Silent_p.T113T|AQP7_uc011lnx.1_Missense_Mutation_p.Q245L	p.Q245L	NM_001170	NP_001161	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	6	906	-			245					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37	c.734A>T		.	.	.	.	.	.	.	.	.	.	t	10.44	1.350646	0.24512	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88	5.04	5.04	0.67666	Aquaporin-like (2);	0.122950	0.64402	D	0.000014	T	0.10165	0.0249	.	.	.	0.26175	N	0.9798	B;B;B;B	0.12630	0.0;0.0;0.006;0.001	B;B;B;B	0.15870	0.003;0.005;0.014;0.005	T	0.14282	-1.0478	9	0.62326	D	0.03	-0.6143	12.7904	0.57530	0.0:0.0:0.0:1.0	.	244;245;188;245	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	L	153;244;113;245;188;153;244;245;181	ENSP00000441619:Q153L;ENSP00000368821:Q244L;ENSP00000412868:Q113L;ENSP00000297988:Q245L;ENSP00000396111:Q188L;ENSP00000410138:Q153L;ENSP00000368820:Q244L;ENSP00000439534:Q245L;ENSP00000368817:Q181L	ENSP00000297988:Q245L	Q	-	2	0	AQP7	33375656	0.883000	0.30277	0.564000	0.28396	0.088000	0.18126	5.757000	0.68766	2.118000	0.64928	0.449000	0.29647	CAG		0.597	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170	
PRDM12	59335	broad.mit.edu	37	9	133543671	133543671	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr9:133543671G>A	ENST00000253008.2	+	3	601	c.541G>A	c.(541-543)Ggc>Agc	p.G181S		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	181	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGTCCAGATCGGCACCAGCAT	0.582																																						uc004bzt.1																			0		p.I180I(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(541-543)Ggc>Agc		Homo sapiens PR domain containing 12 (PRDM12), mRNA.							210.0	158.0	175.0					9																	133543671		2203	4300	6503	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133543671G>A	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.541G>A	9.37:g.133543671G>A	ENSP00000253008:p.Gly181Ser						p.G181S	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	2	601	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	181			SET.		A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.541G>A	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166295	0.78339	.	.	ENSG00000130711	ENST00000253008	T	0.41065	1.01	5.21	5.21	0.72293	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	L	0.35723	1.085	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.51803	-0.8659	10	0.36615	T	0.2	-40.5646	17.7439	0.88414	0.0:0.0:1.0:0.0	.	181	Q9H4Q4	PRD12_HUMAN	S	181	ENSP00000253008:G181S	ENSP00000253008:G181S	G	+	1	0	PRDM12	132533492	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	9.238000	0.95380	2.423000	0.82170	0.655000	0.94253	GGC		0.582	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619	
