#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AFF3	3899	hgsc.bcm.edu;ucsc.edu	37	2	100210705	100210705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr2:100210705delT	ENST00000409236.2	-	13	1530	c.1418delA	c.(1417-1419)aacfs	p.N473fs	AFF3_ENST00000317233.4_Frame_Shift_Del_p.N473fs|AFF3_ENST00000356421.2_Frame_Shift_Del_p.N498fs|AFF3_ENST00000409579.1_Frame_Shift_Del_p.N498fs			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	473					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATTAACTTTGTTTAGCCATTT	0.463																																																	0													141.0	163.0	156.0					2																	100210705		2173	4278	6451	SO:0001589	frameshift_variant	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1418delA	2.37:g.100210705delT	ENSP00000387207:p.Asn473fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Frame_Shift_Del	DEL	ENST00000409236.2	37	CCDS42723.1																																																																																				0.463	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285	
AKAP4	8852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	49957227	49957227	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chrX:49957227T>A	ENST00000376056.2	-	5	2260	c.2110A>T	c.(2110-2112)Aag>Tag	p.K704*	AKAP4_ENST00000376064.3_Nonsense_Mutation_p.K704*|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Nonsense_Mutation_p.K330*|AKAP4_ENST00000358526.2_Nonsense_Mutation_p.K713*					A kinase (PRKA) anchor protein 4									p.K713*(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTGCTATACTTAGCCATGATA	0.478																																																	1	Substitution - Nonsense(1)	kidney(1)											101.0	81.0	88.0					X																	49957227		2203	4300	6503	SO:0001587	stop_gained	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2110A>T	X.37:g.49957227T>A	ENSP00000365224:p.Lys704*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000376056.2	37	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	T	35	5.476549	0.96291	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	.	.	.	4.93	4.93	0.64822	.	0.103489	0.42548	D	0.000700	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.5327	10.0706	0.42330	0.0:0.0:0.0:1.0	.	.	.	.	X	704;330;713;704	.	.	K	-	1	0	AKAP4	49843967	1.000000	0.71417	0.932000	0.37286	0.429000	0.31625	4.446000	0.60014	1.643000	0.50594	0.430000	0.28490	AAG		0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1		NM_003886	
CARF	79800	broad.mit.edu;ucsc.edu	37	2	203818776	203818776	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr2:203818776T>G	ENST00000402905.3	+	6	797	c.476T>G	c.(475-477)gTg>gGg	p.V159G	CARF_ENST00000414439.1_Missense_Mutation_p.V57G|CARF_ENST00000545262.1_Missense_Mutation_p.V83G|CARF_ENST00000320443.8_Missense_Mutation_p.V159G|CARF_ENST00000456821.2_Missense_Mutation_p.V147G|CARF_ENST00000444724.1_Missense_Mutation_p.V159G|CARF_ENST00000428585.1_Missense_Mutation_p.V83G|CARF_ENST00000434998.1_Missense_Mutation_p.V57G|CARF_ENST00000438828.2_Missense_Mutation_p.V159G|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545253.1_Missense_Mutation_p.V71G|WDR12_ENST00000477723.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	159					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V159G(1)									ACTGTAAGAGTGGATACTCTA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											98.0	97.0	98.0					2																	203818776		1856	4108	5964	SO:0001583	missense	79800			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.476T>G	2.37:g.203818776T>G	ENSP00000384006:p.Val159Gly	Somatic		WXS	Illumina GAIIx	Phase_I	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	T	0.856	-0.736968	0.03111	.	.	ENSG00000138380	ENST00000402905;ENST00000444724;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000456821;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	4.62	2.14	0.27477	.	0.602094	0.15102	N	0.280498	T	0.39384	0.1076	L	0.52364	1.645	0.21604	N	0.999628	B;B;D;B;B	0.55385	0.002;0.002;0.971;0.004;0.004	B;B;P;B;B	0.55455	0.006;0.006;0.776;0.006;0.006	T	0.17899	-1.0354	9	0.22109	T	0.4	0.0162	5.318	0.15866	0.0:0.0941:0.3485:0.5573	.	71;83;159;159;159	B4DIA7;G3V1K7;B4DRP6;Q8N187;F6SXV3	.;.;.;AL2S8_HUMAN;.	G	159;159;57;83;71;83;147;57;159;159	.	ENSP00000316224:V159G	V	+	2	0	ALS2CR8	203527021	0.999000	0.42202	0.003000	0.11579	0.005000	0.04900	1.052000	0.30429	0.138000	0.18790	0.533000	0.62120	GTG		0.403	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5		NM_001104586	
ANAPC16	119504	hgsc.bcm.edu	37	10	73992824	73992825	+	Frame_Shift_Ins	INS	-	-	G	rs147406330		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr10:73992824_73992825insG	ENST00000299381.4	+	4	401_402	c.283_284insG	c.(283-285)cggfs	p.R95fs	ANAPC16_ENST00000470481.2_3'UTR	NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3	NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1	Q96DE5	APC16_HUMAN	anaphase promoting complex subunit 16	95					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	anaphase-promoting complex (GO:0005680)|cytoplasm (GO:0005737)				large_intestine(1)|ovary(1)	2						TGACGAGTGGCGGTTTAAGCCC	0.52																																																	0																																										SO:0001589	frameshift_variant	119504			BC009530	CCDS7314.1, CCDS73147.1	10q22.2	2011-08-12	2010-04-06	2010-04-06	ENSG00000166295	ENSG00000166295		"""Anaphase promoting complex subunits"""	26976	protein-coding gene	gene with protein product	"""centromere protein 27"""	613427	"""chromosome 10 open reading frame 104"""	C10orf104		14702039, 20360068	Standard	NM_001242546		Approved	bA570G20.3, FLJ33728, APC16, CENP-27	uc021psp.1	Q96DE5	OTTHUMG00000018433	ENST00000299381.4:c.285dupG	10.37:g.73992826_73992826dupG	ENSP00000299381:p.Arg95fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000299381.4	37	CCDS7314.1																																																																																				0.520	ANAPC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048565.2		NM_173473	
ANKIB1	54467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91924303	91924303	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:91924303C>A	ENST00000265742.3	+	2	387	c.11C>A	c.(10-12)aCa>aAa	p.T4K		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	4							zinc ion binding (GO:0008270)	p.T4K(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGGGAAATACAACCACCAAA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											47.0	41.0	43.0					7																	91924303		1863	4099	5962	SO:0001583	missense	54467			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.11C>A	7.37:g.91924303C>A	ENSP00000265742:p.Thr4Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065380	0.93898	.	.	ENSG00000001629	ENST00000265742;ENST00000442183	T;T	0.34072	2.58;1.38	5.56	5.56	0.83823	.	0.100995	0.64402	D	0.000002	T	0.46833	0.1413	L	0.56769	1.78	0.58432	D	0.999997	P	0.51653	0.947	P	0.47402	0.546	T	0.48736	-0.9009	10	0.87932	D	0	.	19.9019	0.96988	0.0:1.0:0.0:0.0	.	4	Q9P2G1	AKIB1_HUMAN	K	4	ENSP00000265742:T4K;ENSP00000407002:T4K	ENSP00000265742:T4K	T	+	2	0	ANKIB1	91762239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.444000	0.80532	2.781000	0.95711	0.650000	0.86243	ACA		0.378	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			
ARHGEF18	23370	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7509264	7509264	+	Missense_Mutation	SNP	G	G	A	rs560092117		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:7509264G>A	ENST00000359920.6	+	4	1224	c.971G>A	c.(970-972)cGc>cAc	p.R324H	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.A282T|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R166H	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	324	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)	p.R324H(1)|p.R166H(1)		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)				CTCAAGGAGCGCCGCCAGGAG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18357	0.001		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	kidney(2)											52.0	53.0	52.0					19																	7509264		2203	4300	6503	SO:0001583	missense	23370			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.971G>A	19.37:g.7509264G>A	ENSP00000352995:p.Arg324His	Somatic		WXS	Illumina HiSeq	Phase_I	A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156324	0.94686	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.71222	-0.55;-0.55	5.0	5.0	0.66597	Dbl homology (DH) domain (5);	0.000000	0.56097	D	0.000031	D	0.87958	0.6309	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91184	0.4978	10	0.87932	D	0	-16.6913	15.8086	0.78538	0.0:0.0:1.0:0.0	.	324	Q6ZSZ5	ARHGI_HUMAN	H	166;324	ENSP00000319200:R166H;ENSP00000352995:R324H	ENSP00000319200:R166H	R	+	2	0	ARHGEF18	7415264	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.869000	0.99810	2.312000	0.78011	0.561000	0.74099	CGC		0.617	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1		NM_015318	
ATP8B2	57198	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154313463	154313463	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:154313463T>G	ENST00000368489.3	+	13	1267	c.1267T>G	c.(1267-1269)Ttc>Gtc	p.F423V	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Missense_Mutation_p.F409V|RNU7-57P_ENST00000459540.1_RNA	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	409					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F423V(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAGTACATCTTCTCCGACAA	0.552																																																	1	Substitution - Missense(1)	kidney(1)											92.0	88.0	89.0					1																	154313463		2203	4300	6503	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1267T>G	1.37:g.154313463T>G	ENSP00000357475:p.Phe423Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.813630	0.90790	.	.	ENSG00000143515	ENST00000368489;ENST00000341822	T;T	0.78481	-0.18;-1.18	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.91761	0.7394	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94637	0.7827	10	0.87932	D	0	.	14.4338	0.67268	0.0:0.0:0.0:1.0	.	423	P98198-3	.	V	423;409	ENSP00000357475:F423V;ENSP00000340448:F409V	ENSP00000340448:F409V	F	+	1	0	ATP8B2	152580087	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.868000	0.87116	2.196000	0.70406	0.459000	0.35465	TTC		0.552	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2		NM_020452	
ARL14EP	120534	hgsc.bcm.edu	37	11	30352754	30352754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr11:30352754delA	ENST00000282032.3	+	2	474	c.259delA	c.(259-261)aaafs	p.K88fs		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	88				K -> KK (in Ref. 2; CAI46092). {ECO:0000305}.		cytoplasm (GO:0005737)											GAAATTAGCCAAAAAAAATTT	0.338																																																	0													93.0	93.0	93.0					11																	30352754		2202	4299	6501	SO:0001589	frameshift_variant	0			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.259delA	11.37:g.30352754delA	ENSP00000282032:p.Lys88fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5HYH9	Frame_Shift_Del	DEL	ENST00000282032.3	37	CCDS7869.1																																																																																				0.338	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1		NM_152316	
ARL14EP	120534	hgsc.bcm.edu	37	11	30352756	30352756	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr11:30352756A>C	ENST00000282032.3	+	2	476	c.261A>C	c.(259-261)aaA>aaC	p.K87N		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	87						cytoplasm (GO:0005737)											AATTAGCCAAAAAAAATTTGC	0.338																																																	0													94.0	93.0	93.0					11																	30352756		2202	4299	6501	SO:0001583	missense	0			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.261A>C	11.37:g.30352756A>C	ENSP00000282032:p.Lys87Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q5HYH9	Missense_Mutation	SNP	ENST00000282032.3	37	CCDS7869.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.966523	0.34659	.	.	ENSG00000152219	ENST00000282032;ENST00000530909	T	0.66280	-0.2	5.57	3.23	0.37069	.	0.101735	0.64402	D	0.000006	T	0.51109	0.1655	L	0.36672	1.1	0.35322	D	0.784845	P	0.34934	0.476	B	0.41174	0.349	T	0.59064	-0.7524	10	0.54805	T	0.06	-24.3038	4.2176	0.10542	0.6065:0.0:0.3935:0.0	.	87	Q8N8R7	CK046_HUMAN	N	87	ENSP00000282032:K87N	ENSP00000282032:K87N	K	+	3	2	C11orf46	30309332	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.223000	0.42936	0.947000	0.37659	0.533000	0.62120	AAA		0.338	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1		NM_152316	
ENTHD2	146705	broad.mit.edu	37	17	79204474	79204474	+	Missense_Mutation	SNP	G	G	A	rs371283553		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr17:79204474G>A	ENST00000300714.3	-	11	956	c.899C>T	c.(898-900)gCg>gTg	p.A300V	ENTHD2_ENST00000374769.2_Missense_Mutation_p.A216V|AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	300						cytoplasmic vesicle (GO:0031410)		p.A300V(1)									GGCACACAGCGCCCTCTGCGG	0.672											OREG0024811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											19.0	22.0	21.0					17																	79204474		2203	4297	6500	SO:0001583	missense	0			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.899C>T	17.37:g.79204474G>A	ENSP00000300714:p.Ala300Val	Somatic	1189	WXS	Illumina GAIIx	Phase_I	Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413624	0.62511	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.21191	2.02;2.02	5.15	5.15	0.70609	.	0.268590	0.35677	N	0.003050	T	0.45115	0.1326	M	0.64997	1.995	0.37205	D	0.904564	P;D	0.89917	0.954;1.0	B;D	0.87578	0.336;0.998	T	0.52653	-0.8547	10	0.72032	D	0.01	-16.0036	16.4089	0.83699	0.0:0.0:1.0:0.0	.	300;216	Q96N21;Q96N21-2	CQ056_HUMAN;.	V	300;216	ENSP00000300714:A300V;ENSP00000363901:A216V	ENSP00000300714:A300V	A	-	2	0	C17orf56	76819069	1.000000	0.71417	0.958000	0.39756	0.005000	0.04900	3.649000	0.54417	2.399000	0.81585	0.542000	0.68232	GCG		0.672	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1		NM_144679	
C19orf47	126526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40829950	40829950	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:40829950C>T	ENST00000582783.1	-	8	749	c.737G>A	c.(736-738)gGc>gAc	p.G246D	C19orf47_ENST00000584868.1_5'Flank|C19orf47_ENST00000392035.2_Missense_Mutation_p.G179D	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	246						nucleus (GO:0005634)		p.G179D(1)|p.G246D(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			GGTCTCGGCGCCGAGGCGGTC	0.632																																																	2	Substitution - Missense(2)	kidney(2)											197.0	147.0	164.0					19																	40829950		2203	4300	6503	SO:0001583	missense	126526			AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.737G>A	19.37:g.40829950C>T	ENSP00000463159:p.Gly246Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450919	0.96205	.	.	ENSG00000160392	ENST00000357884;ENST00000392035	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70107	-0.4963	9	0.23302	T	0.38	1.1533	16.9073	0.86131	0.0:1.0:0.0:0.0	.	246	Q8N9M1	CS047_HUMAN	D	246;179	.	ENSP00000350556:G246D	G	-	2	0	C19orf47	45521790	1.000000	0.71417	0.977000	0.42913	0.941000	0.58515	6.408000	0.73285	2.584000	0.87258	0.563000	0.77884	GGC		0.632	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1		NM_178830	
C1orf159	54991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1021312	1021312	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:1021312A>C	ENST00000379339.1	-	9	709	c.499T>G	c.(499-501)Ttc>Gtc	p.F167V	C1orf159_ENST00000379319.1_Missense_Mutation_p.F131V|C1orf159_ENST00000437760.1_Missense_Mutation_p.F131V|C1orf159_ENST00000421241.2_Missense_Mutation_p.F131V|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Missense_Mutation_p.F131V|C1orf159_ENST00000448924.1_Missense_Mutation_p.F167V|C1orf159_ENST00000379320.1_Missense_Mutation_p.F131V			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	167						integral component of membrane (GO:0016021)		p.F41V(1)				all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TTGAGGTAGAAGAACCCAGCT	0.622																																																	1	Substitution - Missense(1)	kidney(1)											67.0	65.0	65.0					1																	1021312		2203	4299	6502	SO:0001583	missense	54991			AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.499T>G	1.37:g.1021312A>C	ENSP00000368644:p.Phe167Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Missense_Mutation	SNP	ENST00000379339.1	37		.	.	.	.	.	.	.	.	.	.	A	14.75	2.628030	0.46944	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000421241;ENST00000379320;ENST00000379319;ENST00000434641;ENST00000457999;ENST00000437760	.	.	.	4.71	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	M	0.72894	2.215	0.44570	D	0.99753	P;D;D;D;P	0.89917	0.869;0.959;1.0;0.959;0.869	P;P;D;P;P	0.87578	0.558;0.74;0.998;0.74;0.558	T	0.71196	-0.4664	9	0.87932	D	0	-14.0547	8.5906	0.33686	0.9052:0.0:0.0948:0.0	.	131;167;131;131;131	Q5T2W7;Q96HA4;Q96HA4-4;Q5T2W9;E9PBW5	.;CA159_HUMAN;.;.;.	V	167;167;131;131;131;131;131;142;131	.	ENSP00000294576:F131V	F	-	1	0	C1orf159	1011175	1.000000	0.71417	0.996000	0.52242	0.075000	0.17131	5.090000	0.64498	0.651000	0.30788	-0.589000	0.04120	TTC		0.622	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2		NM_017891	
C22orf31	25770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	29456415	29456415	+	Silent	SNP	T	T	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr22:29456415T>C	ENST00000216071.4	-	2	471	c.420A>G	c.(418-420)ggA>ggG	p.G140G		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	140								p.G140G(1)		cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						CTCTGATGCCTCCTGCAGGCC	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											117.0	107.0	111.0					22																	29456415		2203	4300	6503	SO:0001819	synonymous_variant	25770			AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.420A>G	22.37:g.29456415T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A0AV97	Silent	SNP	ENST00000216071.4	37	CCDS13848.1																																																																																				0.517	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1		NM_015370	
CDV3	55573	broad.mit.edu;ucsc.edu	37	3	133302927	133302927	+	Silent	SNP	T	T	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr3:133302927T>C	ENST00000264993.3	+	3	714	c.399T>C	c.(397-399)ggT>ggC	p.G133G	CDV3_ENST00000420115.2_Silent_p.G31G|CDV3_ENST00000508481.1_Silent_p.G31G|CDV3_ENST00000431519.2_Silent_p.G133G|CDV3_ENST00000515421.1_Silent_p.G31G|CDV3_ENST00000511392.1_Silent_p.G31G	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	133	Poly-Gly.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.G133G(2)		kidney(3)|lung(1)|prostate(1)	5						GTGGTGGAGGTATGGAAAAAT	0.418																																																	2	Substitution - coding silent(2)	kidney(2)											137.0	127.0	131.0					3																	133302927		2203	4300	6503	SO:0001819	synonymous_variant	55573			AK096865	CCDS3079.1, CCDS46917.1, CCDS46918.1, CCDS75013.1, CCDS75014.1, CCDS75015.1	3q22.1	2008-02-05			ENSG00000091527	ENSG00000091527			26928	protein-coding gene	gene with protein product						10497265	Standard	NM_017548		Approved	H41	uc003epq.3	Q9UKY7	OTTHUMG00000159764	ENST00000264993.3:c.399T>C	3.37:g.133302927T>C		Somatic		WXS	Illumina GAIIx	Phase_I	B3KUC2|Q96IP9	Silent	SNP	ENST00000264993.3	37	CCDS3079.1	.	.	.	.	.	.	.	.	.	.	T	8.690	0.907146	0.17833	.	.	ENSG00000091527	ENST00000503932	.	.	.	5.7	-0.014	0.13982	.	.	.	.	.	T	0.41719	0.1171	.	.	.	0.51012	D	0.999904	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	.	1.6082	0.02688	0.1367:0.3198:0.1318:0.4117	.	.	.	.	A	87	.	.	V	+	2	0	CDV3	134785617	0.419000	0.25449	0.186000	0.23195	0.974000	0.67602	0.132000	0.15891	0.013000	0.14918	0.528000	0.53228	GTA		0.418	CDV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357203.1		NM_017548	
CEP170	9859	broad.mit.edu	37	1	243328076	243328076	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:243328076C>G	ENST00000366542.1	-	13	3237	c.3186G>C	c.(3184-3186)gaG>gaC	p.E1062D	RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366544.1_Missense_Mutation_p.E964D|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.E964D	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1062	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.E1062D(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AATGTACATGCTCATCAGCTG	0.428																																																	1	Substitution - Missense(1)	kidney(1)											33.0	30.0	31.0					1																	243328076		1815	4042	5857	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3186G>C	1.37:g.243328076C>G	ENSP00000355500:p.Glu1062Asp	Somatic		WXS	Illumina GAIIx	Phase_I	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.62|10.62	1.400254|1.400254	0.25291|0.25291	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008|ENST00000336415	T;T;T|.	0.47177|.	0.87;0.86;0.85|.	5.15|5.15	0.544|0.544	0.17185|0.17185	.|.	0.124834|.	0.64402|.	D|.	0.000010|.	T|T	0.30823|0.30823	0.0777|0.0777	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.69078|.	0.997;0.99;0.99;0.995|.	P;D;D;D|.	0.73380|.	0.89;0.979;0.979;0.98|.	T|T	0.03739|0.03739	-1.1008|-1.1008	10|5	0.19590|.	T|.	0.45|.	-15.5611|-15.5611	9.3365|9.3365	0.38054|0.38054	0.0:0.1883:0.0:0.8117|0.0:0.1883:0.0:0.8117	.|.	1025;964;964;1062|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	D|T	1062;964;964;23|1026	ENSP00000355500:E1062D;ENSP00000355502:E964D;ENSP00000355501:E964D|.	ENSP00000355500:E1062D|.	E|S	-|-	3|2	2|0	CEP170|CEP170	241394699|241394699	1.000000|1.000000	0.71417|0.71417	0.892000|0.892000	0.35008|0.35008	0.985000|0.985000	0.73830|0.73830	0.818000|0.818000	0.27295|0.27295	-0.130000|-0.130000	0.11599|0.11599	0.555000|0.555000	0.69702|0.69702	GAG|AGC		0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2		NM_014812	
CFTR	1080	broad.mit.edu;hgsc.bcm.edu	37	7	117251654	117251654	+	Silent	SNP	T	T	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:117251654T>G	ENST00000003084.6	+	20	3291	c.3159T>G	c.(3157-3159)acT>acG	p.T1053T	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Silent_p.T992T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1053	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.T1053T(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CAATTTTCACTCATCTTGTTA	0.358									Cystic Fibrosis																																								1	Substitution - coding silent(1)	kidney(1)											74.0	69.0	71.0					7																	117251654		2203	4300	6503	SO:0001819	synonymous_variant	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3159T>G	7.37:g.117251654T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	CCDS5773.1																																																																																				0.358	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3		NM_000492	
CHRM3	1131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	240070801	240070801	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:240070801G>C	ENST00000255380.4	+	5	829	c.50G>C	c.(49-51)aGc>aCc	p.S17T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	17					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.S17T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCAAACATCAGCTCCTCCTGG	0.512																																																	1	Substitution - Missense(1)	kidney(1)											74.0	70.0	71.0					1																	240070801		2203	4300	6503	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.50G>C	1.37:g.240070801G>C	ENSP00000255380:p.Ser17Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088187	0.55968	.	.	ENSG00000133019	ENST00000255380;ENST00000448020	T;T	0.60672	0.17;0.72	5.39	5.39	0.77823	.	0.077827	0.53938	D	0.000047	T	0.51278	0.1665	L	0.40543	1.245	0.42050	D	0.991111	B	0.26635	0.155	B	0.23018	0.043	T	0.49960	-0.8883	10	0.49607	T	0.09	-24.2031	17.705	0.88306	0.0:0.0:1.0:0.0	.	17	P20309	ACM3_HUMAN	T	17	ENSP00000255380:S17T;ENSP00000404764:S17T	ENSP00000255380:S17T	S	+	2	0	CHRM3	238137424	1.000000	0.71417	0.994000	0.49952	0.798000	0.45092	2.459000	0.45023	2.679000	0.91253	0.650000	0.86243	AGC		0.512	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2		NM_000740	
CLIC5	53405	hgsc.bcm.edu;ucsc.edu	37	6	45882075	45882076	+	Frame_Shift_Del	DEL	TC	TC	-	rs148377014	byFrequency	TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:45882075_45882076delTC	ENST00000185206.6	-	5	1106_1107	c.954_955delGA	c.(952-957)gagattfs	p.EI318fs	CLIC5_ENST00000544153.1_Frame_Shift_Del_p.EI159fs|CLIC5_ENST00000486570.1_5'UTR|CLIC5_ENST00000339561.6_Frame_Shift_Del_p.EI159fs	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	318	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						TTGGCGTCAATCTCCTCTGGTA	0.52																																																	0																																										SO:0001589	frameshift_variant	53405			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.954_955delGA	6.37:g.45882077_45882078delTC	ENSP00000185206:p.Glu318fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Frame_Shift_Del	DEL	ENST00000185206.6	37	CCDS47438.1																																																																																				0.520	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			
COL7A1	1294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	48626394	48626394	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr3:48626394C>A	ENST00000328333.8	-	18	2456	c.2349G>T	c.(2347-2349)caG>caT	p.Q783H	COL7A1_ENST00000454817.1_Missense_Mutation_p.Q783H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	783	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q783H(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATTGAGGATCTGCAGCCTCG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											81.0	77.0	79.0					3																	48626394		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2349G>T	3.37:g.48626394C>A	ENSP00000332371:p.Gln783His	Somatic		WXS	Illumina HiSeq	Phase_I	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	7.840	0.721630	0.15372	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.57107	0.42;0.42	5.08	2.22	0.28083	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.43110	D	0.000619	T	0.56529	0.1991	L	0.31664	0.95	0.32453	N	0.545169	D	0.69078	0.997	D	0.85130	0.997	T	0.63346	-0.6658	10	0.72032	D	0.01	.	8.7304	0.34496	0.0:0.7174:0.0:0.2826	.	783	Q02388	CO7A1_HUMAN	H	783	ENSP00000332371:Q783H;ENSP00000412569:Q783H	ENSP00000332371:Q783H	Q	-	3	2	COL7A1	48601398	0.477000	0.25909	1.000000	0.80357	0.700000	0.40528	0.280000	0.18790	0.256000	0.21614	-1.598000	0.00824	CAG		0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094	
COPE	11316	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19021795	19021795	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:19021795G>A	ENST00000262812.4	-	3	323	c.275C>T	c.(274-276)gCc>gTc	p.A92V	COPE_ENST00000349893.4_Missense_Mutation_p.A92V|COPE_ENST00000351079.4_Missense_Mutation_p.A92V|COPE_ENST00000600932.1_Missense_Mutation_p.A92V|COPE_ENST00000598969.1_5'UTR|AC002985.3_ENST00000596918.1_3'UTR	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	92					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.A92V(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						ACTCTCGTGGGCGAGGTAGTC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											108.0	91.0	97.0					19																	19021795		2203	4300	6503	SO:0001583	missense	11316			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.275C>T	19.37:g.19021795G>A	ENSP00000262812:p.Ala92Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Missense_Mutation	SNP	ENST00000262812.4	37	CCDS12387.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557734	0.45590	.	.	ENSG00000105669	ENST00000262812;ENST00000351079;ENST00000349893;ENST00000538245	T;T;T	0.45276	0.9;0.9;0.9	4.8	3.75	0.43078	.	0.293194	0.38959	N	0.001515	T	0.42381	0.1200	L	0.56199	1.76	0.39677	D	0.970844	B;B;P;B	0.34699	0.265;0.302;0.464;0.265	B;B;B;B	0.39971	0.042;0.315;0.315;0.042	T	0.33214	-0.9877	10	0.30078	T	0.28	-10.6483	13.1673	0.59579	0.0:0.0:0.8392:0.1608	.	92;92;92;92	Q53HJ6;A6NE29;A6NKA3;O14579	.;.;.;COPE_HUMAN	V	92;92;92;91	ENSP00000262812:A92V;ENSP00000345674:A92V;ENSP00000343134:A92V	ENSP00000262812:A92V	A	-	2	0	COPE	18882795	1.000000	0.71417	0.779000	0.31741	0.174000	0.22865	7.130000	0.77235	1.005000	0.39183	0.514000	0.50259	GCC		0.627	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464801.1		NM_007263	
CROCC	9696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	17264218	17264218	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:17264218A>G	ENST00000375541.5	+	10	1345	c.1276A>G	c.(1276-1278)Aag>Gag	p.K426E	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.K426E(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCTCACTGAGAAGCTTGAGGC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											41.0	32.0	35.0					1																	17264218		2203	4300	6503	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1276A>G	1.37:g.17264218A>G	ENSP00000364691:p.Lys426Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893970	0.33442	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.09723	2.95	4.64	4.64	0.57946	.	.	.	.	.	T	0.09468	0.0233	L	0.44542	1.39	0.35043	D	0.759894	P;P;P	0.38370	0.628;0.597;0.597	B;B;B	0.40285	0.318;0.325;0.325	T	0.06092	-1.0846	9	0.07030	T	0.85	.	8.7576	0.34654	0.8092:0.1908:0.0:0.0	.	289;289;426	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	E	426;307	ENSP00000364691:K426E	ENSP00000364691:K426E	K	+	1	0	CROCC	17136805	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.918000	0.56432	1.861000	0.53984	0.459000	0.35465	AAG		0.602	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2		NM_014675	
DEFB114	245928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	49928062	49928062	+	Silent	SNP	G	G	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:49928062G>T	ENST00000322066.3	-	2	152	c.153C>A	c.(151-153)tcC>tcA	p.S51S		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	51					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)	p.S51S(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTCTTGGTAAGGAACATATGT	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											120.0	109.0	113.0					6																	49928062		2203	4299	6502	SO:0001819	synonymous_variant	245928			DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"""Defensins, beta"""	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.153C>A	6.37:g.49928062G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NES9	Silent	SNP	ENST00000322066.3	37	CCDS34474.1																																																																																				0.383	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1		NM_001037499	
DNM1	1759	broad.mit.edu	37	9	131012518	131012518	+	Missense_Mutation	SNP	C	C	T	rs528033412		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr9:131012518C>T	ENST00000372923.3	+	20	2293	c.2201C>T	c.(2200-2202)gCa>gTa	p.A734V	DNM1_ENST00000486160.1_Missense_Mutation_p.A734V|DNM1_ENST00000341179.7_Missense_Mutation_p.A734V|DNM1_ENST00000475805.1_Missense_Mutation_p.A734V|DNM1_ENST00000393594.3_Missense_Mutation_p.A734V	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	734	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.A734V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ATGTACCACGCACTGAAGGAG	0.657																																					GBM(113;146 1575 2722 28670 29921)												2	Substitution - Missense(2)	kidney(2)											48.0	34.0	38.0					9																	131012518		2203	4300	6503	SO:0001583	missense	1759			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.2201C>T	9.37:g.131012518C>T	ENSP00000362014:p.Ala734Val	Somatic		WXS	Illumina GAIIx	Phase_I	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	.	36	5.720056	0.96839	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	4.52	4.52	0.55395	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	M	0.71036	2.16	0.80722	D	1	D;D;D	0.76494	0.997;0.996;0.999	D;D;D	0.79108	0.989;0.98;0.992	T	0.71613	-0.4540	10	0.56958	D	0.05	-1.6771	17.4162	0.87500	0.0:1.0:0.0:0.0	.	734;734;673	Q05193;Q05193-3;B4DHH5	DYN1_HUMAN;.;.	V	734;734;734;734;734;279	ENSP00000419225:A734V;ENSP00000345680:A734V;ENSP00000362014:A734V;ENSP00000377219:A734V;ENSP00000420045:A734V	ENSP00000345680:A734V	A	+	2	0	DNM1	130052339	1.000000	0.71417	0.954000	0.39281	0.979000	0.70002	5.877000	0.69675	2.340000	0.79590	0.542000	0.68232	GCA		0.657	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1		NM_004408	
DST	667	hgsc.bcm.edu;ucsc.edu	37	6	56484970	56484971	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:56484970_56484971delAG	ENST00000370765.6	-	23	3968_3969	c.3861_3862delCT	c.(3859-3864)ctcttgfs	p.LL1287fs	DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	744					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAGCTTCAAGAGTTCTTCCT	0.322																																																	0																																										SO:0001589	frameshift_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.3861_3862delCT	6.37:g.56484972_56484973delAG	ENSP00000359801:p.Leu1287fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000370765.6	37	CCDS4959.1																																																																																				0.322	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2		NM_001723	
FAM135A	57579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	71234370	71234370	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:71234370G>C	ENST00000418814.2	+	15	2197	c.1583G>C	c.(1582-1584)aGt>aCt	p.S528T	FAM135A_ENST00000505868.1_Missense_Mutation_p.S528T|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000370479.3_Intron|FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000457062.2_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	528								p.S528T(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGTTTGAAAAGTACAGCATCA	0.333																																																	1	Substitution - Missense(1)	kidney(1)											25.0	21.0	22.0					6																	71234370		692	1590	2282	SO:0001583	missense	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1583G>C	6.37:g.71234370G>C	ENSP00000410768:p.Ser528Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	2.345	-0.350262	0.05173	.	.	ENSG00000082269	ENST00000418814;ENST00000505868	T;T	0.56444	0.46;0.46	5.57	1.55	0.23275	.	0.384243	0.36101	N	0.002793	T	0.12135	0.0295	N	0.16478	0.41	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11227	-1.0596	10	0.11182	T	0.66	-10.9852	6.5236	0.22289	0.2087:0.3649:0.4264:0.0	.	528	Q9P2D6	F135A_HUMAN	T	528	ENSP00000410768:S528T;ENSP00000423307:S528T	ENSP00000410768:S528T	S	+	2	0	FAM135A	71291091	0.846000	0.29590	1.000000	0.80357	0.986000	0.74619	-0.204000	0.09425	0.395000	0.25257	-0.218000	0.12543	AGT		0.333	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2		NM_020819	
FAM160B2	64760	broad.mit.edu;hgsc.bcm.edu	37	8	21956566	21956566	+	Splice_Site	SNP	C	C	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr8:21956566C>G	ENST00000289921.7	+	8	1119	c.1073C>G	c.(1072-1074)aCg>aGg	p.T358R		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	358								p.T84R(1)|p.T358R(1)		endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GAGGCACACACGGTGAGCAGG	0.607																																																	2	Substitution - Missense(2)	kidney(2)											41.0	37.0	38.0					8																	21956566		1965	4136	6101	SO:0001630	splice_region_variant	64760			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1074+1C>G	8.37:g.21956566C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	ENST00000289921.7	37	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	.	4.196	0.034986	0.08101	.	.	ENSG00000158863	ENST00000289921	T	0.30182	1.54	5.51	-0.196	0.13232	.	1.343940	0.04397	N	0.363502	T	0.17746	0.0426	N	0.19112	0.55	0.20307	N	0.999915	B	0.10296	0.003	B	0.12156	0.007	T	0.18618	-1.0331	10	0.26408	T	0.33	0.0789	2.2819	0.04116	0.1265:0.4286:0.1134:0.3316	.	358	Q86V87	F16B2_HUMAN	R	358	ENSP00000289921:T358R	ENSP00000289921:T358R	T	+	2	0	FAM160B2	22012511	0.000000	0.05858	0.133000	0.22050	0.203000	0.24098	-0.445000	0.06845	0.028000	0.15324	-0.995000	0.02519	ACG		0.607	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			Missense_Mutation
FAM178A	55719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	102684302	102684302	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr10:102684302C>G	ENST00000238961.4	+	5	2086	c.1544C>G	c.(1543-1545)tCt>tGt	p.S515C	FAM178A_ENST00000370269.3_Missense_Mutation_p.S515C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S515C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	515						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.S515C(1)									TCTGGGCATTCTACAGAATCC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											85.0	88.0	87.0					10																	102684302		2203	4300	6503	SO:0001583	missense	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1544C>G	10.37:g.102684302C>G	ENSP00000238961:p.Ser515Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324878	0.41197	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.62105	0.05;0.77;0.75	5.5	5.5	0.81552	.	0.000000	0.51477	D	0.000092	T	0.66973	0.2844	N	0.19112	0.55	0.36283	D	0.855889	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.997	T	0.73672	-0.3909	10	0.62326	D	0.03	-13.465	14.7704	0.69671	0.0:1.0:0.0:0.0	.	164;515;515;515	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	C	515	ENSP00000359294:S515C;ENSP00000238961:S515C;ENSP00000359292:S515C	ENSP00000238961:S515C	S	+	2	0	FAM178A	102674292	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.675000	0.54605	2.861000	0.98227	0.655000	0.94253	TCT		0.398	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			
FAM186A	121006	hgsc.bcm.edu	37	12	50745913	50745948	+	In_Frame_Del	DEL	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	-	rs34283706|rs538502101|rs34000017|rs35116763		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr12:50745913_50745948delTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	ENST00000327337.5	-	4	4666_4701	c.4667_4702delTCCCTCCGCAGGCTCAGGAATTGGAGATCCCTCTCA	c.(4666-4704)atccctccgcaggctcaggaattggagatccctctcacc>acc	p.IPPQAQELEIPL1556del	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_In_Frame_Del_p.IPPQAQELEIPL1556del	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1556																	TGCTGAGGGGTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGATGAGAGGGAT	0.665																																					NSCLC(138;1796 1887 12511 19463 37884)												0																																										SO:0001651	inframe_deletion	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4667_4702delTCCCTCCGCAGGCTCAGGAATTGGAGATCCCTCTCA	12.37:g.50745913_50745948delTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	ENSP00000329995:p.Ile1556_Leu1567del	Somatic		WXS	Illumina HiSeq	Phase_I		In_Frame_Del	DEL	ENST00000327337.5	37	CCDS44878.1																																																																																				0.665	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1		XM_001718353	
NXPE4	54827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	114442140	114442140	+	Silent	SNP	C	C	A	rs372817926		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr11:114442140C>A	ENST00000375478.3	-	6	1335	c.1155G>T	c.(1153-1155)gtG>gtT	p.V385V	NXPE4_ENST00000424261.2_Silent_p.V101V	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	385						extracellular vesicular exosome (GO:0070062)		p.V385V(1)									TATCCAAATCCACAGCAAGCT	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											215.0	190.0	198.0					11																	114442140		1911	4138	6049	SO:0001819	synonymous_variant	0			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1155G>T	11.37:g.114442140C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6QDB4|Q9NXP5	Silent	SNP	ENST00000375478.3	37	CCDS41718.1																																																																																				0.408	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1		NM_017678	
FIGNL1	63979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	50513982	50513982	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:50513982C>T	ENST00000419119.1	-	2	2557	c.1004G>A	c.(1003-1005)gGg>gAg	p.G335E	FIGNL1_ENST00000395556.2_Missense_Mutation_p.G335E|FIGNL1_ENST00000356889.4_Missense_Mutation_p.G335E|FIGNL1_ENST00000433017.1_Missense_Mutation_p.G335E			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	335	Necessary and sufficient for interaction with RAD51.				ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.G335E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TCCAAGTATCCCTCGGGATCT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											85.0	84.0	84.0					7																	50513982		2203	4300	6503	SO:0001583	missense	63979			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1004G>A	7.37:g.50513982C>T	ENSP00000410811:p.Gly335Glu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224153	0.79576	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92993	0.7770	L	0.47190	1.495	0.80722	D	1	P	0.51537	0.946	P	0.49887	0.625	D	0.90682	0.4606	10	0.22109	T	0.4	-16.5397	19.2108	0.93753	0.0:1.0:0.0:0.0	.	335	Q6PIW4	FIGL1_HUMAN	E	335	ENSP00000349356:G335E;ENSP00000378924:G335E;ENSP00000399997:G335E;ENSP00000410811:G335E	ENSP00000349356:G335E	G	-	2	0	FIGNL1	50481476	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.786000	0.85741	2.778000	0.95560	0.650000	0.86243	GGG		0.468	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1		NM_001042762	
HEATR5A	25938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	31817065	31817065	+	Silent	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr14:31817065G>A	ENST00000389961.3	-	18	2738	c.2739C>T	c.(2737-2739)gcC>gcT	p.A913A	HEATR5A_ENST00000404677.3_Silent_p.A919A|HEATR5A_ENST00000439727.1_Silent_p.A626A|HEATR5A_ENST00000439348.1_Silent_p.A913A|HEATR5A_ENST00000543095.2_Silent_p.A919A			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	913								p.A913A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GGGACCCCAAGGCCAATGAGT	0.373																																																	2	Substitution - coding silent(2)	kidney(2)											44.0	41.0	42.0					14																	31817065		1839	4085	5924	SO:0001819	synonymous_variant	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2739C>T	14.37:g.31817065G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.063|9.063	0.994921|0.994921	0.19043|0.19043	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000550366|ENST00000538864	.|.	.|.	.|.	5.06|5.06	-0.356|-0.356	0.12583|0.12583	.|.	.|.	.|.	.|.	.|.	T|T	0.39759|0.39759	0.1090|0.1090	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.21314|0.21314	-1.0249|-1.0249	4|4	.|.	.|.	.|.	.|.	0.94|0.94	0.01353|0.01353	0.3617:0.1183:0.2895:0.2305|0.3617:0.1183:0.2895:0.2305	.|.	.|.	.|.	.|.	F|L	562|547	.|.	.|.	L|P	-|-	1|2	0|0	HEATR5A|HEATR5A	30886816|30886816	0.925000|0.925000	0.31364|0.31364	0.994000|0.994000	0.49952|0.49952	0.945000|0.945000	0.59286|0.59286	0.178000|0.178000	0.16820|0.16820	-0.335000|-0.335000	0.08451|0.08451	-0.367000|-0.367000	0.07326|0.07326	CTT|CCT		0.373	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_015473	
HHIPL2	79802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	222717069	222717069	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:222717069C>T	ENST00000343410.6	-	2	842	c.784G>A	c.(784-786)Gtg>Atg	p.V262M		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	262					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.V262M(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GTGGTCAACACGATGTTCTTG	0.532																																																	1	Substitution - Missense(1)	kidney(1)											103.0	101.0	102.0					1																	222717069		2203	4300	6503	SO:0001583	missense	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.784G>A	1.37:g.222717069C>T	ENSP00000342118:p.Val262Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649652	0.87958	.	.	ENSG00000143512	ENST00000343410	T	0.17213	2.29	5.31	5.31	0.75309	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52275	-0.8597	10	0.62326	D	0.03	-22.5254	18.5622	0.91104	0.0:1.0:0.0:0.0	.	262	Q6UWX4	HIPL2_HUMAN	M	262	ENSP00000342118:V262M	ENSP00000342118:V262M	V	-	1	0	HHIPL2	220783692	1.000000	0.71417	0.639000	0.29394	0.994000	0.84299	5.684000	0.68197	2.461000	0.83175	0.467000	0.42956	GTG		0.532	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2		NM_024746	
HJURP	55355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234749785	234749785	+	Silent	SNP	A	A	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr2:234749785A>G	ENST00000411486.2	-	8	1706	c.1641T>C	c.(1639-1641)aaT>aaC	p.N547N	HJURP_ENST00000432087.1_Silent_p.N493N|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000441687.1_Silent_p.N462N	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	547					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.N547N(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TTCCAGAACTATTTCCCTGAA	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											121.0	125.0	124.0					2																	234749785		2203	4300	6503	SO:0001819	synonymous_variant	55355				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1641T>C	2.37:g.234749785A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Silent	SNP	ENST00000411486.2	37	CCDS33406.1																																																																																				0.483	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6		NM_018410	
HOXA1	3198	hgsc.bcm.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs368428758|rs10951154|rs544314279	byFrequency	TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	CGA	CGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.R73del|HOTAIRM1_ENST00000425358.2_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154). {ECO:0000269|PubMed:11091361, ECO:0000269|PubMed:14702039}.		abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.65											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		37	0.00738818	0.0	0.0144	5008	,	,		11776	0.001		0.0209	False		,,,				2504	0.0051																0																																										SO:0001651	inframe_deletion	3198				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.216_218delTCG	7.37:g.27135314_27135316delCGA	ENSP00000343246:p.Arg73del	Somatic	792	WXS	Illumina HiSeq	Phase_I	A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	CCDS5401.1																																																																																				0.650	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			
INTS6	26512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	51943326	51943326	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr13:51943326G>T	ENST00000311234.4	-	16	2697	c.2225C>A	c.(2224-2226)gCc>gAc	p.A742D	INTS6_ENST00000490542.1_Missense_Mutation_p.A426D|INTS6_ENST00000398119.2_Missense_Mutation_p.A729D|INTS6_ENST00000425000.1_Missense_Mutation_p.A310D|INTS6_ENST00000463928.1_3'UTR|INTS6_ENST00000497989.1_Missense_Mutation_p.A564D	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	742					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.A742D(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CAGTAAACTGGCTGGAGAAGA	0.408																																																	1	Substitution - Missense(1)	kidney(1)											83.0	79.0	80.0					13																	51943326		2203	4300	6503	SO:0001583	missense	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.2225C>A	13.37:g.51943326G>T	ENSP00000310260:p.Ala742Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	G	4.595	0.110652	0.08780	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	.	.	.	5.33	3.31	0.37934	.	0.860776	0.10622	N	0.653217	T	0.28665	0.0710	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10894	-1.0610	8	.	.	.	0.0592	6.5406	0.22378	0.3097:0.0:0.6903:0.0	.	742	Q9UL03	INT6_HUMAN	D	742;729;564;310;426	.	.	A	-	2	0	INTS6	50841327	1.000000	0.71417	0.775000	0.31657	0.592000	0.36648	2.193000	0.42658	1.242000	0.43836	0.557000	0.71058	GCC		0.408	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1		NM_012141	
JPH2	57158	broad.mit.edu	37	20	42788569	42788569	+	Silent	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr20:42788569G>A	ENST00000372980.3	-	2	1730	c.858C>T	c.(856-858)acC>acT	p.T286T		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	286					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.T286T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCTCGGTGGTGGTGGCGTCGA	0.706																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	47.0	48.0					20																	42788569		2203	4300	6503	SO:0001819	synonymous_variant	57158			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.858C>T	20.37:g.42788569G>A		Somatic		WXS	Illumina GAIIx	Phase_I	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	CCDS13325.1																																																																																				0.706	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			
KCNA2	3737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	111146166	111146166	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:111146166G>C	ENST00000485317.1	-	3	1912	c.1239C>G	c.(1237-1239)ttC>ttG	p.F413L	KCNA2_ENST00000440270.1_Missense_Mutation_p.F413L|KCNA2_ENST00000525120.1_5'Flank|KCNA2_ENST00000316361.4_Missense_Mutation_p.F413L|KCNA2_ENST00000369770.3_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	413					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F413L(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	AGAAGTAGTTGAAATTGGACA	0.493																																					Pancreas(18;568 735 10587 23710 36357)												1	Substitution - Missense(1)	kidney(1)											135.0	129.0	131.0					1																	111146166		2203	4300	6503	SO:0001583	missense	3737			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.1239C>G	1.37:g.111146166G>C	ENSP00000433109:p.Phe413Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	CCDS827.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139670	0.77775	.	.	ENSG00000177301	ENST00000485317;ENST00000440270;ENST00000316361	D;D;D	0.97480	-4.4;-4.4;-4.4	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	M	0.91196	3.185	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	D	0.99808	1.1039	10	0.87932	D	0	.	18.6418	0.91398	0.0:0.0:1.0:0.0	.	413	P16389	KCNA2_HUMAN	L	413	ENSP00000433109:F413L;ENSP00000415257:F413L;ENSP00000314520:F413L	ENSP00000314520:F413L	F	-	3	2	KCNA2	110947689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.697000	0.74603	2.401000	0.81631	0.655000	0.94253	TTC		0.493	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2		NM_004974	
KIAA1524	57650	broad.mit.edu;ucsc.edu	37	3	108281998	108281998	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr3:108281998G>A	ENST00000295746.8	-	13	1685	c.1609C>T	c.(1609-1611)Cca>Tca	p.P537S	KIAA1524_ENST00000491772.1_Missense_Mutation_p.P378S|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	537					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P537S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTGGCAGTGGAGCAGCCTCC	0.403																																																	1	Substitution - Missense(1)	kidney(1)											148.0	151.0	150.0					3																	108281998		2203	4300	6503	SO:0001583	missense	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1609C>T	3.37:g.108281998G>A	ENSP00000295746:p.Pro537Ser	Somatic		WXS	Illumina GAIIx	Phase_I	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739288	0.89573	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.70399	-0.48;-0.48	5.62	5.62	0.85841	.	0.048819	0.85682	D	0.000000	D	0.82870	0.5131	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.82102	-0.0623	10	0.48119	T	0.1	-11.6132	19.6484	0.95791	0.0:0.0:1.0:0.0	.	537	Q8TCG1	CIP2A_HUMAN	S	378;537	ENSP00000419487:P378S;ENSP00000295746:P537S	ENSP00000295746:P537S	P	-	1	0	KIAA1524	109764688	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.852000	0.75430	2.646000	0.89796	0.557000	0.71058	CCA		0.403	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2		NM_020890	
LOC401127	401127	broad.mit.edu	37	4	39482624	39482624	+	RNA	SNP	T	T	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr4:39482624T>C	ENST00000513652.1	+	0	631																											TTCATTTTAATCGTGATGGAT	0.468																																																	0																																												401127																															4.37:g.39482624T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000513652.1	37																																																																																					0.468	RP11-472B18.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361032.1			
LTBP1	4052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	33534505	33534505	+	Silent	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr2:33534505C>T	ENST00000404816.2	+	23	3839	c.3486C>T	c.(3484-3486)atC>atT	p.I1162I	LTBP1_ENST00000354476.3_Silent_p.I1163I|LTBP1_ENST00000407925.1_Silent_p.I836I|LTBP1_ENST00000402934.1_Silent_p.I783I|LTBP1_ENST00000418533.2_Silent_p.I836I|LTBP1_ENST00000404525.1_Silent_p.I783I|LTBP1_ENST00000272273.5_Silent_p.I102I|LTBP1_ENST00000390003.4_Silent_p.I837I|LTBP1_ENST00000498013.1_3'UTR			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1162	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.I1163I(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTTTAGATATCAATGAATGCT	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											87.0	83.0	84.0					2																	33534505		2203	4300	6503	SO:0001819	synonymous_variant	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3486C>T	2.37:g.33534505C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	3.555	-0.090864	0.07053	.	.	ENSG00000049323	ENST00000415140	.	.	.	5.64	2.87	0.33458	.	.	.	.	.	T	0.46698	0.1406	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34054	-0.9844	4	.	.	.	.	3.4975	0.07661	0.3228:0.4547:0.0:0.2225	.	.	.	.	L	124	.	.	S	+	2	0	LTBP1	33388009	1.000000	0.71417	0.998000	0.56505	0.379000	0.30106	0.694000	0.25512	0.737000	0.32582	0.655000	0.94253	TCA		0.338	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2		NM_206943	
MAN1A1	4121	hgsc.bcm.edu;ucsc.edu	37	6	119522461	119522461	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:119522461delA	ENST00000368468.3	-	8	1609	c.1168delT	c.(1168-1170)tatfs	p.Y390fs		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	390					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TAGTTAGGATAAAGGCCTTGT	0.353																																					Ovarian(136;8 1825 12608 33541 47587)												0													186.0	183.0	184.0					6																	119522461		2203	4300	6503	SO:0001589	frameshift_variant	4121			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1168delT	6.37:g.119522461delA	ENSP00000357453:p.Tyr390fs	Somatic		WXS	Illumina HiSeq	Phase_I	E7EU32|Q6P052|Q9NU44|Q9UJI3	Frame_Shift_Del	DEL	ENST00000368468.3	37	CCDS5122.1																																																																																				0.353	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1		NM_005907	
MATK	4145	broad.mit.edu	37	19	3783901	3783901	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:3783901C>T	ENST00000310132.6	-	6	891	c.493G>A	c.(493-495)Gac>Aac	p.D165N	MATK_ENST00000395040.2_Missense_Mutation_p.D124N|MATK_ENST00000585778.1_Missense_Mutation_p.D165N|MATK_ENST00000395045.2_Missense_Mutation_p.D166N	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	165	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.D166N(1)|p.D165N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGATGACGTCGCGGCCAAAG	0.662																																																	2	Substitution - Missense(2)	kidney(2)											54.0	45.0	48.0					19																	3783901		2203	4299	6502	SO:0001583	missense	4145			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.493G>A	19.37:g.3783901C>T	ENSP00000308734:p.Asp165Asn	Somatic		WXS	Illumina GAIIx	Phase_I	B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	c	13.36	2.215344	0.39102	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.88277	-2.36;-2.36;-2.36	4.8	4.8	0.61643	SH2 motif (5);	0.262201	0.37136	N	0.002238	D	0.84352	0.5453	N	0.12502	0.225	0.37084	D	0.899141	D;D;D	0.58970	0.984;0.967;0.984	P;P;P	0.51974	0.686;0.612;0.686	D	0.84177	0.0437	10	0.17369	T	0.5	-38.7543	16.8631	0.86023	0.0:1.0:0.0:0.0	.	165;166;165	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	N	166;165;124	ENSP00000378485:D166N;ENSP00000308734:D165N;ENSP00000378481:D124N	ENSP00000308734:D165N	D	-	1	0	MATK	3734901	0.997000	0.39634	0.868000	0.34077	0.334000	0.28698	3.610000	0.54125	2.214000	0.71695	0.556000	0.70494	GAC		0.662	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1		NM_139355	
MCOLN3	55283	hgsc.bcm.edu;ucsc.edu	37	1	85486913	85486913	+	Frame_Shift_Del	DEL	T	T	-	rs576043238		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:85486913delT	ENST00000370589.2	-	12	1419	c.1367delA	c.(1366-1368)aatfs	p.N456fs	MCOLN3_ENST00000341115.4_Frame_Shift_Del_p.N400fs|MCOLN3_ENST00000474447.1_5'UTR|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	456					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATCATCTCCATTTATCAGAGA	0.378																																																	0													82.0	84.0	83.0					1																	85486913		2203	4300	6503	SO:0001589	frameshift_variant	55283			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1367delA	1.37:g.85486913delT	ENSP00000359621:p.Asn456fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T4H5|Q5T4H6|Q9NV09	Frame_Shift_Del	DEL	ENST00000370589.2	37	CCDS701.1																																																																																				0.378	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2		NM_018298	
MUC4	4585	broad.mit.edu	37	3	195505855	195505855	+	Missense_Mutation	SNP	G	G	T	rs201422998		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr3:195505855G>T	ENST00000463781.3	-	2	13055	c.12596C>A	c.(12595-12597)tCc>tAc	p.S4199Y	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S4199Y	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S4199Y(6)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGATGCTGAGGAAGTGTCGGT	0.597																																																	6	Substitution - Missense(6)	kidney(4)|endometrium(2)																																								SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12596C>A	3.37:g.195505855G>T	ENSP00000417498:p.Ser4199Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	1.831	-0.469745	0.04445	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36340	1.26;1.38	.	.	.	.	.	.	.	.	T	0.36826	0.0981	N	0.19112	0.55	0.19300	N	0.999978	D	0.57571	0.98	D	0.66847	0.947	T	0.18241	-1.0343	7	.	.	.	.	6.6097	0.22745	2.0E-4:0.0:0.9998:0.0	.	4071	E7ESK3	.	Y	4199	ENSP00000417498:S4199Y;ENSP00000420243:S4199Y	.	S	-	2	0	MUC4	196990634	0.001000	0.12720	0.030000	0.17652	0.035000	0.12851	-0.256000	0.08757	0.452000	0.26830	0.074000	0.15403	TCC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NCOR1	9611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	15952284	15952284	+	Silent	SNP	T	T	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr17:15952284T>G	ENST00000268712.3	-	41	6668	c.6411A>C	c.(6409-6411)ccA>ccC	p.P2137P	NCOR1_ENST00000395857.3_Silent_p.P721P|NCOR1_ENST00000395851.1_Silent_p.P2034P	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2137	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P2137P(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACTCCTCTCTGGGGATTTTC	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											68.0	63.0	65.0					17																	15952284		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6411A>C	17.37:g.15952284T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	CCDS11175.1																																																																																				0.473	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311	
NELL2	4753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	44915937	44915937	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr12:44915937C>T	ENST00000429094.2	-	18	2525	c.2021G>A	c.(2020-2022)cGg>cAg	p.R674Q	NELL2_ENST00000551601.1_Missense_Mutation_p.R626Q|NELL2_ENST00000395487.2_Missense_Mutation_p.R673Q|NELL2_ENST00000549027.1_Missense_Mutation_p.R673Q|NELL2_ENST00000333837.4_Missense_Mutation_p.R697Q|NELL2_ENST00000452445.2_Missense_Mutation_p.R674Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R724Q	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	674	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R724Q(1)|p.R674Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACAGACCATCCGTCGACACAT	0.438																																																	2	Substitution - Missense(2)	kidney(2)											100.0	92.0	95.0					12																	44915937		2203	4300	6503	SO:0001583	missense	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2021G>A	12.37:g.44915937C>T	ENSP00000390680:p.Arg674Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	33	5.273423	0.95459	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;T;D;D;D;D	0.82619	-1.57;-1.54;-1.25;-1.54;-1.57;-1.51;-1.63	5.7	4.81	0.61882	von Willebrand factor, type C (2);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88548	0.6466	L	0.55103	1.725	0.58432	D	0.999994	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.978;0.999;0.996;0.992;0.999	D	0.88054	0.2789	10	0.42905	T	0.14	-16.7329	14.8365	0.70187	0.0:0.931:0.0:0.069	.	697;724;626;674;673	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	Q	673;674;626;674;673;697;724	ENSP00000378866:R673Q;ENSP00000390680:R674Q;ENSP00000449332:R626Q;ENSP00000394612:R674Q;ENSP00000447927:R673Q;ENSP00000327988:R697Q;ENSP00000416341:R724Q	ENSP00000327988:R697Q	R	-	2	0	NELL2	43202204	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	7.814000	0.86154	1.405000	0.46838	0.650000	0.86243	CGG		0.438	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1		NM_006159	
NLRP12	91662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54313326	54313326	+	Silent	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:54313326G>A	ENST00000324134.6	-	3	1755	c.1587C>T	c.(1585-1587)gaC>gaT	p.D529D	NLRP12_ENST00000535162.1_Silent_p.D529D|NLRP12_ENST00000351894.4_Silent_p.D529D|NLRP12_ENST00000391773.1_Silent_p.D529D|NLRP12_ENST00000391772.1_Silent_p.D529D|NLRP12_ENST00000354278.3_Silent_p.D529D|NLRP12_ENST00000391775.3_Silent_p.D529D|NLRP12_ENST00000345770.5_Silent_p.D529D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	529					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.D529D(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCTCCCCCTCGTCCAGGATAT	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											92.0	93.0	92.0					19																	54313326		2203	4300	6503	SO:0001819	synonymous_variant	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1587C>T	19.37:g.54313326G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	CCDS12864.1																																																																																				0.537	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1		NM_144687	
NRG3	10718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	84745303	84745303	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr10:84745303G>A	ENST00000404547.1	+	10	2105	c.2105G>A	c.(2104-2106)cGa>cAa	p.R702Q	NRG3_ENST00000545131.1_Missense_Mutation_p.R328Q|NRG3_ENST00000372142.2_Missense_Mutation_p.R481Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R508Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R678Q|NRG3_ENST00000537893.1_Missense_Mutation_p.R328Q|NRG3_ENST00000404576.2_Missense_Mutation_p.R482Q			P56975	NRG3_HUMAN	neuregulin 3	702					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R481Q(1)|p.R678Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAATCAGAACGAGAGGCGCAA	0.468																																																	2	Substitution - Missense(2)	kidney(2)											75.0	72.0	73.0					10																	84745303		2203	4300	6503	SO:0001583	missense	10718			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2105G>A	10.37:g.84745303G>A	ENSP00000384796:p.Arg702Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062828	0.36373	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.54479	1.2;1.18;1.2;0.57;1.14;0.67;0.67	5.45	5.45	0.79879	.	0.114076	0.39615	N	0.001317	T	0.30386	0.0763	N	0.21448	0.665	0.43381	D	0.995489	B;P;P;B	0.43607	0.115;0.669;0.812;0.115	B;B;B;B	0.26693	0.036;0.053;0.072;0.036	T	0.19811	-1.0294	10	0.44086	T	0.13	-36.0478	10.2471	0.43347	0.0894:0.0:0.9106:0.0	.	677;702;481;678	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	Q	678;702;677;481;482;508;328;328	ENSP00000361214:R678Q;ENSP00000384796:R702Q;ENSP00000361215:R481Q;ENSP00000385804:R482Q;ENSP00000451376:R508Q;ENSP00000441201:R328Q;ENSP00000440377:R328Q	ENSP00000361214:R678Q	R	+	2	0	NRG3	84735283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.160000	0.50739	2.567000	0.86603	0.591000	0.81541	CGA		0.468	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1		XM_166086	
OR2L8	391190	broad.mit.edu;hgsc.bcm.edu	37	1	248112511	248112511	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:248112511G>A	ENST00000357191.3	+	1	352	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A118T(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCATCTATGGCCTATGATCG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											304.0	255.0	272.0					1																	248112511		2203	4300	6503	SO:0001583	missense	391190			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.352G>A	1.37:g.248112511G>A	ENSP00000349719:p.Ala118Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	16.11	3.030535	0.54790	.	.	ENSG00000196936	ENST00000357191	T	0.54071	0.59	1.64	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31747	U	0.007134	T	0.65943	0.2740	M	0.90369	3.11	0.33401	D	0.577321	D	0.54601	0.967	P	0.53224	0.721	T	0.76677	-0.2871	10	0.87932	D	0	.	8.2283	0.31582	0.0:0.0:0.7628:0.2372	.	118	Q8NGY9	OR2L8_HUMAN	T	118	ENSP00000349719:A118T	ENSP00000349719:A118T	A	+	1	0	OR2L8	246179134	1.000000	0.71417	0.132000	0.22025	0.059000	0.15707	0.814000	0.27239	0.905000	0.36596	0.479000	0.44913	GCC		0.448	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			
OR2L13	284521	broad.mit.edu;hgsc.bcm.edu	37	1	248263038	248263038	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:248263038C>T	ENST00000358120.2	+	2	506	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Missense_Mutation_p.R121C			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R121S(2)|p.R121C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GGCCTACGACCGTTATTTGGC	0.498																																																	4	Substitution - Missense(4)	lung(2)|kidney(2)											219.0	205.0	210.0					1																	248263038		2203	4300	6503	SO:0001583	missense	284521			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.361C>T	1.37:g.248263038C>T	ENSP00000350836:p.Arg121Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921688	0.17982	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.77358	-1.09;-1.09	4.07	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000732	D	0.83184	0.5199	M	0.85373	2.75	0.37111	D	0.900355	D	0.69078	0.997	P	0.53185	0.72	D	0.85394	0.1127	10	0.72032	D	0.01	.	9.7554	0.40500	0.0:0.8268:0.0:0.1732	.	121	Q8N349	OR2LD_HUMAN	C	121	ENSP00000355434:R121C;ENSP00000350836:R121C	ENSP00000350836:R121C	R	+	1	0	OR2L13	246329661	0.014000	0.17966	0.065000	0.19835	0.206000	0.24218	-0.001000	0.12947	0.370000	0.24538	0.650000	0.86243	CGT		0.498	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1		NM_175911	
PAPD4	167153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	78936786	78936786	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr5:78936786C>T	ENST00000296783.3	+	6	877	c.578C>T	c.(577-579)cCa>cTa	p.P193L	PAPD4_ENST00000428308.2_Missense_Mutation_p.P193L|PAPD4_ENST00000504233.1_Missense_Mutation_p.P193L|PAPD4_ENST00000423041.2_Missense_Mutation_p.P193L|PAPD4_ENST00000453514.1_Missense_Mutation_p.P193L			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	193					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)	p.P193L(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CTGTTATTTCCACGTATGTTT	0.333																																																	1	Substitution - Missense(1)	kidney(1)											72.0	71.0	71.0					5																	78936786		2203	4300	6503	SO:0001583	missense	167153			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.578C>T	5.37:g.78936786C>T	ENSP00000296783:p.Pro193Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880063	0.91740	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.77	5.77	0.91146	.	0.103999	0.64402	D	0.000003	T	0.65688	0.2715	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.987;0.991;0.963	T	0.67321	-0.5700	10	0.87932	D	0	-9.2228	19.9947	0.97381	0.0:1.0:0.0:0.0	.	193;193;193	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	L	193	ENSP00000397563:P193L;ENSP00000393412:P193L;ENSP00000421966:P193L;ENSP00000396861:P193L;ENSP00000296783:P193L	ENSP00000296783:P193L	P	+	2	0	PAPD4	78972542	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.205000	0.77881	2.736000	0.93811	0.305000	0.20034	CCA		0.333	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1		NM_173797	
PBXIP1	57326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154918597	154918597	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:154918597T>G	ENST00000368463.3	-	10	1624	c.1553A>C	c.(1552-1554)aAg>aCg	p.K518T	PBXIP1_ENST00000539880.1_Missense_Mutation_p.K345T|PBXIP1_ENST00000542459.1_Missense_Mutation_p.K363T|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000368465.1_Missense_Mutation_p.K489T	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	518					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.K518T(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTGCCCTCCTTCCACCTTCC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											137.0	141.0	140.0					1																	154918597		2203	4300	6503	SO:0001583	missense	57326			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1553A>C	1.37:g.154918597T>G	ENSP00000357448:p.Lys518Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480362	0.44044	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.17691	2.26;2.26;2.33;2.3	4.26	0.355	0.16069	.	1.411040	0.04929	N	0.456518	T	0.13970	0.0338	M	0.62723	1.935	0.09310	N	0.999994	D	0.55385	0.971	P	0.52957	0.714	T	0.16305	-1.0407	10	0.49607	T	0.09	-7.6155	7.6064	0.28105	0.0:0.2824:0.0:0.7176	.	518	Q96AQ6	PBIP1_HUMAN	T	489;518;518;345;294;363	ENSP00000357450:K489T;ENSP00000357448:K518T;ENSP00000440142:K345T;ENSP00000438584:K363T	ENSP00000295523:K518T	K	-	2	0	PBXIP1	153185221	0.000000	0.05858	0.050000	0.19076	0.778000	0.44026	0.181000	0.16880	-0.103000	0.12175	0.260000	0.18958	AAG		0.592	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1		NM_020524	
PDZD2	23037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32089797	32089797	+	Silent	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr5:32089797C>T	ENST00000438447.1	+	20	6631	c.6243C>T	c.(6241-6243)agC>agT	p.S2081S	PDZD2_ENST00000282493.3_Silent_p.S2081S			O15018	PDZD2_HUMAN	PDZ domain containing 2	2081					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.S2081S(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TAATGGCCAGCGATCGCCTCG	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											69.0	67.0	68.0					5																	32089797		2203	4300	6503	SO:0001819	synonymous_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6243C>T	5.37:g.32089797C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																				0.552	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			
PHAX	51808	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	125939331	125939331	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr5:125939331C>T	ENST00000297540.4	+	2	861	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	56	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)	p.H56Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						ACCAGTATCACATTATCGAGC	0.413																																																	1	Substitution - Missense(1)	kidney(1)											141.0	144.0	143.0					5																	125939331		2203	4300	6503	SO:0001583	missense	51808			AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.166C>T	5.37:g.125939331C>T	ENSP00000297540:p.His56Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	C	0.707	-0.788520	0.02884	.	.	ENSG00000164902	ENST00000297540;ENST00000456348	T	0.21932	1.98	5.74	2.66	0.31614	.	0.332897	0.33477	N	0.004867	T	0.14227	0.0344	L	0.36672	1.1	0.24747	N	0.993003	P	0.39216	0.664	B	0.33392	0.163	T	0.10428	-1.0630	10	0.45353	T	0.12	-2.3505	10.1047	0.42526	0.2548:0.6756:0.0:0.0696	.	56	Q9H814	PHAX_HUMAN	Y	56	ENSP00000297540:H56Y	ENSP00000297540:H56Y	H	+	1	0	PHAX	125967230	0.050000	0.20438	0.863000	0.33907	0.163000	0.22366	0.828000	0.27435	0.757000	0.33036	0.655000	0.94253	CAT		0.413	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1		NM_032177	
JADE3	9767	broad.mit.edu;ucsc.edu	37	X	46887397	46887397	+	Silent	SNP	A	A	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chrX:46887397A>C	ENST00000218343.4	+	6	877	c.579A>C	c.(577-579)ctA>ctC	p.L193L	PHF16_ENST00000397189.1_Silent_p.L193L	NM_014735.3	NP_055550.1												p.L193L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AGGAAGGGCTAGGCATAGAGT	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											299.0	204.0	236.0					X																	46887397		2203	4300	6503	SO:0001819	synonymous_variant	9767																														ENST00000218343.4:c.579A>C	X.37:g.46887397A>C		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000218343.4	37	CCDS14271.1																																																																																				0.448	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			
PIAS4	51588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	4013124	4013124	+	Silent	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:4013124G>A	ENST00000262971.2	+	2	346	c.231G>A	c.(229-231)ccG>ccA	p.P77P		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	77					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P77P(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCACAGCCGCACCGGCCCC	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											42.0	48.0	46.0					19																	4013124		2203	4300	6503	SO:0001819	synonymous_variant	51588			AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.231G>A	19.37:g.4013124G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O75926|Q96G19|Q9UN16	Silent	SNP	ENST00000262971.2	37	CCDS12118.1																																																																																				0.637	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1		NM_015897	
POU6F2	11281	broad.mit.edu	37	7	39500263	39500263	+	Missense_Mutation	SNP	A	A	T	rs200235640	byFrequency	TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:39500263A>T	ENST00000403058.1	+	10	1674	c.1520A>T	c.(1519-1521)cAg>cTg	p.Q507L	POU6F2_ENST00000559001.1_Missense_Mutation_p.Q452L|POU6F2_ENST00000518318.2_Missense_Mutation_p.Q507L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	507	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q507L(1)|p.Q507R(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGGTGGGACAGGCTCTCAGT	0.602																																																	2	Substitution - Missense(2)	kidney(1)|endometrium(1)											33.0	29.0	30.0					7																	39500263		2203	4300	6503	SO:0001583	missense	11281			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1520A>T	7.37:g.39500263A>T	ENSP00000384004:p.Gln507Leu	Somatic		WXS	Illumina GAIIx	Phase_I	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	A	14.53	2.564253	0.45694	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	D;D	0.82893	-1.66;-1.66	5.48	5.48	0.80851	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.84074	0.5392	N	0.16602	0.42	0.58432	D	0.999997	D	0.64830	0.994	D	0.76575	0.988	D	0.85048	0.0927	10	0.40728	T	0.16	.	15.5731	0.76354	1.0:0.0:0.0:0.0	.	507	P78424	PO6F2_HUMAN	L	507	ENSP00000384004:Q507L;ENSP00000430514:Q507L	ENSP00000384004:Q507L	Q	+	2	0	POU6F2	39466788	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.249000	0.95470	2.080000	0.62538	0.418000	0.28097	CAG		0.602	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3		NM_007252	
PRMT9	90826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	148578942	148578942	+	Splice_Site	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr4:148578942C>T	ENST00000322396.6	-	8	1573		c.e8+1		PRMT10_ENST00000541232.1_Splice_Site|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN								cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ACAAGACCTACCTGCAAGGTC	0.393																																																	1	Unknown(1)	kidney(1)											73.0	64.0	67.0					4																	148578942		2203	4300	6503	SO:0001630	splice_region_variant	90826																														ENST00000322396.6:c.1330+1G>A	4.37:g.148578942C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Splice_Site	SNP	ENST00000322396.6	37	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925075	0.52759	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6299	0.95698	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRMT10	148798392	1.000000	0.71417	0.999000	0.59377	0.396000	0.30629	6.788000	0.75105	2.639000	0.89480	0.655000	0.94253	.		0.393	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			Intron
PTPN5	84867	broad.mit.edu;ucsc.edu	37	11	18764949	18764949	+	Missense_Mutation	SNP	C	C	T	rs200523801		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr11:18764949C>T	ENST00000358540.2	-	5	749	c.319G>A	c.(319-321)Ggt>Agt	p.G107S	PTPN5_ENST00000396171.4_Missense_Mutation_p.G107S|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396167.2_Intron|PTPN5_ENST00000396168.1_Missense_Mutation_p.G83S|PTPN5_ENST00000396170.1_Intron|PTPN5_ENST00000477854.1_5'UTR|RP11-1081L13.4_ENST00000527285.1_RNA	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	107				G -> A (in Ref. 2; CAD38632). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)	p.G107S(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TGGCCATAACCGCTGAACCAG	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17238	0.0		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	kidney(2)						C	,SER/GLY,SER/GLY	1,4397	2.1+/-5.4	0,1,2198	104.0	100.0	101.0		,319,319	3.0	1.0	11		101	0,8586		0,0,4293	no	intron,missense,missense	PTPN5	NM_001039970.1,NM_032781.3,NM_006906.1	,56,56	0,1,6491	TT,TC,CC		0.0,0.0227,0.0077	,benign,benign	,107/566,107/566	18764949	1,12983	2199	4293	6492	SO:0001583	missense	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.319G>A	11.37:g.18764949C>T	ENSP00000351342:p.Gly107Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	CCDS7845.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	14.28	2.489086	0.44249	2.27E-4	0.0	ENSG00000110786	ENST00000358540;ENST00000396171;ENST00000396168	T;T;T	0.03831	3.79;3.79;3.82	3.86	2.95	0.34219	.	0.244121	0.29198	N	0.012843	T	0.03651	0.0104	N	0.24115	0.695	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.41305	-0.9516	10	0.62326	D	0.03	.	7.3139	0.26489	0.0:0.8778:0.0:0.1222	.	107	P54829	PTN5_HUMAN	S	107;107;83	ENSP00000351342:G107S;ENSP00000379474:G107S;ENSP00000379471:G83S	ENSP00000351342:G107S	G	-	1	0	PTPN5	18721525	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	3.521000	0.53472	0.981000	0.38548	0.561000	0.74099	GGT		0.607	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2		NM_001039970	
RFC1	5981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	39301920	39301920	+	Missense_Mutation	SNP	C	C	T	rs140065280		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr4:39301920C>T	ENST00000381897.1	-	20	2786	c.2653G>A	c.(2653-2655)Gtc>Atc	p.V885I	RNU6-32P_ENST00000383948.1_RNA|RFC1_ENST00000349703.2_Missense_Mutation_p.V884I	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	885					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.V885I(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTTTCCTGGACGAAGAGGGGT	0.483																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												1	Substitution - Missense(1)	kidney(1)						C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	76.0	80.0	78.0		2653,2650	5.2	1.0	4	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RFC1	NM_001204747.1,NM_002913.4	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	885/1149,884/1148	39301920	1,13005	2203	4300	6503	SO:0001583	missense	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2653G>A	4.37:g.39301920C>T	ENSP00000371321:p.Val885Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976128	0.74360	0.0	1.16E-4	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.47869	0.83;0.83	6.07	5.24	0.73138	DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.060515	0.64402	D	0.000003	T	0.57873	0.2083	L	0.33485	1.01	0.80722	D	1	D;D	0.71674	0.998;0.998	P;D	0.76071	0.89;0.987	T	0.54351	-0.8307	10	0.26408	T	0.33	-16.3333	17.0257	0.86446	0.1284:0.8716:0.0:0.0	.	885;884	P35251;P35251-2	RFC1_HUMAN;.	I	885;884	ENSP00000371321:V885I;ENSP00000261424:V884I	ENSP00000261424:V884I	V	-	1	0	RFC1	38978315	1.000000	0.71417	0.998000	0.56505	0.310000	0.27922	6.063000	0.71162	1.590000	0.49995	-0.127000	0.14921	GTC		0.483	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1		NM_002913	
RGL2	5863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33260019	33260019	+	Missense_Mutation	SNP	G	G	T	rs200959026		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:33260019G>T	ENST00000497454.1	-	18	2689	c.2194C>A	c.(2194-2196)Cag>Aag	p.Q732K	WDR46_ENST00000477718.1_5'Flank|WDR46_ENST00000374617.4_5'Flank|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	732	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.Q732K(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTTCGCCGCTGCCGCAGGAGG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											86.0	89.0	88.0					6																	33260019		2203	4300	6503	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2194C>A	6.37:g.33260019G>T	ENSP00000420211:p.Gln732Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	CCDS4774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.606|3.606	-0.080573|-0.080573	0.07141|0.07141	.|.	.|.	ENSG00000237441|ENSG00000237441	ENST00000421215|ENST00000497454	.|T	.|0.15139	.|2.45	5.64|5.64	4.76|4.76	0.60689|0.60689	.|Ras-association (3);	.|0.373125	.|0.27591	.|N	.|0.018690	.|T	.|0.01765	.|0.0056	N|N	0.02539|0.02539	-0.55|-0.55	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.39292	.|-0.9621	.|10	.|0.02654	.|T	.|1	.|.	11.983|11.983	0.53131|0.53131	0.0:0.0:0.8269:0.1731|0.0:0.0:0.8269:0.1731	.|.	.|732	.|O15211	.|RGL2_HUMAN	.|K	-1|732	.|ENSP00000420211:Q732K	.|ENSP00000420211:Q732K	.|Q	-|-	.|1	.|0	RGL2|RGL2	33367997|33367997	0.894000|0.894000	0.30519|0.30519	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.482000|2.482000	0.45224|0.45224	1.358000|1.358000	0.45922|0.45922	0.643000|0.643000	0.83706|0.83706	.|CAG		0.582	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			
RHEB	6009	hgsc.bcm.edu;ucsc.edu	37	7	151168454	151168454	+	Intron	SNP	G	G	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:151168454G>C	ENST00000262187.5	-	6	793				RHEB_ENST00000496004.1_Intron|RHEB_ENST00000472642.1_Intron	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain						cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AATCATCTTAGATTTGACTTT	0.308																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)												0													97.0	109.0	105.0					7																	151168454		2201	4298	6499	SO:0001627	intron_variant	6009			D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"""Ras homolog enriched in brain 2"""	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.380+25C>G	7.37:g.151168454G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KWN6|D3DX13|Q53Y56|Q99444	Intron	SNP	ENST00000262187.5	37	CCDS5927.1																																																																																				0.308	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348468.2		NM_005614	
RPL11	6135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24022342	24022342	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:24022342A>T	ENST00000374550.3	+	5	496	c.451A>T	c.(451-453)Att>Ttt	p.I151F	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	151					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.I151F(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GACAGGCTGCATTGGGGCCAA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											73.0	61.0	65.0					1																	24022342		2202	4299	6501	SO:0001583	missense	6135			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.451A>T	1.37:g.24022342A>T	ENSP00000363676:p.Ile151Phe	Somatic		WXS	Illumina HiSeq	Phase_I	P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	CCDS238.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289732	0.80914	.	.	ENSG00000142676	ENST00000374550;ENST00000458455	T;T	0.77877	-1.13;-1.13	5.7	5.7	0.88788	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.87172	0.6111	H	0.94658	3.565	0.80722	D	1	B;B	0.25235	0.006;0.121	B;B	0.37480	0.104;0.251	D	0.87356	0.2341	10	0.87932	D	0	-1.2984	15.9514	0.79843	1.0:0.0:0.0:0.0	.	150;151	P62913-2;P62913	.;RL11_HUMAN	F	151;149	ENSP00000363676:I151F;ENSP00000398888:I149F	ENSP00000363676:I151F	I	+	1	0	RPL11	23894929	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.122000	0.94380	2.171000	0.68590	0.482000	0.46254	ATT		0.522	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1		NM_000975	
SCML1	6322	broad.mit.edu	37	X	17763603	17763603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chrX:17763603G>T	ENST00000380041.3	+	3	389	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	SCML1_ENST00000380045.3_Intron|SCML1_ENST00000398080.1_Intron|SCML1_ENST00000380043.3_Intron	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	21					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E21*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TACTTACGATGAAGATGACAA	0.284																																																	1	Substitution - Nonsense(1)	kidney(1)											82.0	73.0	76.0					X																	17763603		2201	4297	6498	SO:0001587	stop_gained	6322				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.61G>T	X.37:g.17763603G>T	ENSP00000369380:p.Glu21*	Somatic		WXS	Illumina GAIIx	Phase_I	B0FZN6|B2RA08|Q5H968|Q5H969	Nonsense_Mutation	SNP	ENST00000380041.3	37	CCDS35210.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553300	0.65425	.	.	ENSG00000047634	ENST00000380041	.	.	.	2.73	-3.27	0.05048	.	1.258710	0.06242	U	0.690674	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-1.9668	5.5367	0.17016	0.2031:0.557:0.24:0.0	.	.	.	.	X	21	.	ENSP00000369380:E21X	E	+	1	0	SCML1	17673524	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.639000	0.05446	-0.949000	0.03663	-0.577000	0.04142	GAA		0.284	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5		NM_006746	
SHROOM4	57477	hgsc.bcm.edu	37	X	50350758	50350758	+	Silent	SNP	C	C	T	rs201922875|rs553160982		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chrX:50350758C>T	ENST00000289292.7	-	6	3667	c.3384G>A	c.(3382-3384)caG>caA	p.Q1128Q	SHROOM4_ENST00000376020.2_Silent_p.Q1128Q|SHROOM4_ENST00000460112.3_Silent_p.Q1012Q			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgct	0.592																																																	0													16.0	16.0	16.0					X																	50350758		2200	4287	6487	SO:0001819	synonymous_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3384G>A	X.37:g.50350758C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																				0.592	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4		NM_020717	
SIGLEC6	946	broad.mit.edu	37	19	52035065	52035069	+	5'Flank	DEL	AGAGA	AGAGA	-	rs12609762|rs201665209	byFrequency	TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	AGAGA	AGAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:52035065_52035069delAGAGA	ENST00000425629.3	-	0	0				SIGLEC6_ENST00000359982.4_5'Flank|SIGLEC6_ENST00000346477.3_5'Flank|SIGLEC6_ENST00000436458.1_5'Flank|SIGLEC6_ENST00000391797.3_5'Flank|SIGLEC6_ENST00000343300.4_5'UTR	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TTTGAGACCCAGAGACCTGCCCAAA	0.62																																																	0																																										SO:0001631	upstream_gene_variant	946			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571		19.37:g.52035065_52035069delAGAGA	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_I	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Splice_Site	DEL	ENST00000425629.3	37	CCDS12834.3																																																																																				0.620	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3		NM_001245	
SPA17	53340	hgsc.bcm.edu;ucsc.edu	37	11	124564181	124564203	+	Splice_Site	DEL	TTTCTCCTTTCGATGAAGGACTC	TTTCTCCTTTCGATGAAGGACTC	-	rs199883810		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	TTTCTCCTTTCGATGAAGGACTC	TTTCTCCTTTCGATGAAGGACTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr11:124564181_124564203delTTTCTCCTTTCGATGAAGGACTC	ENST00000532692.1	+	4	1733_1738	c.312_317delTTTCTCCTTTCGATGAAGGACTC	c.(310-318)tttttctcc>ttc	p.FS105fs	SPA17_ENST00000524614.1_3'UTR|SPA17_ENST00000227135.2_Splice_Site_p.FS105fs|SIAE_ENST00000525730.1_5'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	105					binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TCTCTTACTTTTTCTCCTTTCGATGAAGGACTCTTCTGAGGAA	0.395																																																	0																																										SO:0001630	splice_region_variant	53340			AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"""cancer/testis antigen 22"""	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.313-1TTTCTCCTTTCGATGAAGGACTC>-	11.37:g.124564181_124564203delTTTCTCCTTTCGATGAAGGACTC		Somatic		WXS	Illumina HiSeq	Phase_I	B2R4F2|Q9BXF7	Frame_Shift_Del	DEL	ENST00000532692.1	37	CCDS8450.1																																																																																				0.395	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387075.1		NM_017425	Frame_Shift_Del
SPTY2D1	144108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	18636132	18636132	+	Silent	SNP	T	T	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr11:18636132T>G	ENST00000336349.5	-	3	1924	c.1689A>C	c.(1687-1689)ctA>ctC	p.L563L	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	563								p.L563L(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGTAGCCAGATAGGGGAGGCT	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											96.0	101.0	99.0					11																	18636132		2199	4293	6492	SO:0001819	synonymous_variant	144108			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1689A>C	11.37:g.18636132T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Silent	SNP	ENST00000336349.5	37	CCDS31441.1																																																																																				0.418	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1		NM_194285	
SUOX	6821	broad.mit.edu;ucsc.edu	37	12	56397616	56397616	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr12:56397616T>C	ENST00000394109.3	+	3	1167	c.443T>C	c.(442-444)gTg>gCg	p.V148A	SUOX_ENST00000356124.4_Missense_Mutation_p.V148A|SUOX_ENST00000266971.3_Missense_Mutation_p.V148A|SUOX_ENST00000394115.2_Missense_Mutation_p.V148A|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000548274.1_Missense_Mutation_p.V148A|SUOX_ENST00000551841.2_Intron			P51687	SUOX_HUMAN	sulfite oxidase	148	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)	p.V148A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CAGTCCCATGTGCGTGAGTTA	0.562																																																	1	Substitution - Missense(1)	kidney(1)											98.0	95.0	96.0					12																	56397616		2203	4300	6503	SO:0001583	missense	6821			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.443T>C	12.37:g.56397616T>C	ENSP00000377668:p.Val148Ala	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000394109.3	37	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969971	0.74246	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000546833;ENST00000394109	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	4.46	4.46	0.54185	Cytochrome b5 (5);	0.153877	0.43579	D	0.000557	T	0.78748	0.4332	N	0.25094	0.71	0.80722	D	1	D	0.59767	0.986	D	0.66084	0.941	T	0.79914	-0.1602	10	0.48119	T	0.1	-18.3726	13.6785	0.62469	0.0:0.0:0.0:1.0	.	148	P51687	SUOX_HUMAN	A	148	ENSP00000348440:V148A;ENSP00000266971:V148A;ENSP00000377674:V148A;ENSP00000450245:V148A;ENSP00000449872:V148A;ENSP00000377668:V148A	ENSP00000266971:V148A	V	+	2	0	SUOX	54683883	1.000000	0.71417	0.974000	0.42286	0.914000	0.54420	7.344000	0.79328	2.233000	0.73108	0.533000	0.62120	GTG		0.562	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1		NM_000456	
TBCD	6904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80765530	80765530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr17:80765530G>A	ENST00000355528.4	+	11	1264	c.1134G>A	c.(1132-1134)tgG>tgA	p.W378*	TBCD_ENST00000539345.2_Nonsense_Mutation_p.W378*|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	378					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.W378*(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TCGTGCGGTGGTCTGCAGCCA	0.592																																																	1	Substitution - Nonsense(1)	kidney(1)											46.0	53.0	51.0					17																	80765530		2051	4172	6223	SO:0001587	stop_gained	6904			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1134G>A	17.37:g.80765530G>A	ENSP00000347719:p.Trp378*	Somatic		WXS	Illumina HiSeq	Phase_I	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Nonsense_Mutation	SNP	ENST00000355528.4	37	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779519	0.90195	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000334614;ENST00000536182	.	.	.	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.188	0.65620	0.0:0.0:1.0:0.0	.	.	.	.	X	378;361;129;378	.	.	W	+	3	0	TBCD	78358819	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	8.047000	0.89440	2.493000	0.84123	0.655000	0.94253	TGG		0.592	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1		NM_005993	
TEX15	56154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	30706524	30706524	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr8:30706524C>A	ENST00000256246.2	-	1	84	c.10G>T	c.(10-12)Gat>Tat	p.D4Y	TEX15_ENST00000523186.1_5'UTR	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	4					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.D4Y(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCTTTGGCATCACTGGGCATA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											62.0	62.0	62.0					8																	30706524		2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.10G>T	8.37:g.30706524C>A	ENSP00000256246:p.Asp4Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821998	0.50739	.	.	ENSG00000133863	ENST00000256246	T	0.20200	2.09	5.73	4.86	0.63082	.	0.593834	0.15687	N	0.249627	T	0.32346	0.0826	L	0.27053	0.805	0.29777	N	0.834329	D;D	0.89917	0.999;1.0	P;D	0.70935	0.879;0.971	T	0.16394	-1.0404	10	0.87932	D	0	.	12.0057	0.53257	0.0:0.9189:0.0:0.0811	.	284;4	D3DSV6;Q9BXT5	.;TEX15_HUMAN	Y	4	ENSP00000256246:D4Y	ENSP00000256246:D4Y	D	-	1	0	TEX15	30826066	0.743000	0.28239	0.940000	0.37924	0.416000	0.31233	1.035000	0.30216	1.426000	0.47256	0.591000	0.81541	GAT		0.368	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			
THEMIS	387357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	128134336	128134336	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:128134336C>T	ENST00000368248.2	-	4	1598	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	THEMIS_ENST00000543064.1_Missense_Mutation_p.D484N|THEMIS_ENST00000537166.1_Missense_Mutation_p.D449N|THEMIS_ENST00000368250.1_Missense_Mutation_p.D405N	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	484	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D484N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTGTAATGTCCTCCTCCAAC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											76.0	73.0	74.0					6																	128134336		2203	4300	6503	SO:0001583	missense	387357			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1450G>A	6.37:g.128134336C>T	ENSP00000357231:p.Asp484Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410801	0.25465	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.9	3.18	0.36537	.	0.460479	0.23964	N	0.042835	T	0.02727	0.0082	L	0.36672	1.1	0.28798	N	0.898957	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.45234	-0.9275	10	0.23891	T	0.37	-3.9922	4.6583	0.12630	0.1259:0.6226:0.1214:0.1301	.	484;484	F5H1J9;Q8N1K5	.;THMS1_HUMAN	N	405;484;484;449	ENSP00000357233:D405N;ENSP00000439594:D484N;ENSP00000357231:D484N;ENSP00000439863:D449N	ENSP00000357231:D484N	D	-	1	0	THEMIS	128176029	0.998000	0.40836	0.905000	0.35620	0.835000	0.47333	0.741000	0.26202	0.403000	0.25479	-0.244000	0.11960	GAC		0.488	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_001010923	
TKTL2	84076	hgsc.bcm.edu;ucsc.edu	37	4	164393620	164393620	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr4:164393620delC	ENST00000280605.3	-	1	1427	c.1267delG	c.(1267-1269)gtafs	p.V423fs		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	423						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.V423I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAGTGGATACCCCACAGTGG	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)											48.0	49.0	49.0					4																	164393620		2203	4300	6503	SO:0001589	frameshift_variant	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1267delG	4.37:g.164393620delC	ENSP00000280605:p.Val423fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4FVB4|Q8NCT0|Q96M82	Frame_Shift_Del	DEL	ENST00000280605.3	37	CCDS3805.1																																																																																				0.478	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1		NM_032136	
TLE1	7088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	84205823	84205823	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr9:84205823C>T	ENST00000376499.3	-	16	2790	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	576					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)	p.A576T(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCGTAGCAGGCGGGGGCCGAG	0.617																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)												1	Substitution - Missense(1)	kidney(1)											70.0	69.0	70.0					9																	84205823		2203	4300	6503	SO:0001583	missense	7088				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1726G>A	9.37:g.84205823C>T	ENSP00000365682:p.Ala576Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	c	36	5.954952	0.97139	.	.	ENSG00000196781	ENST00000376499	T	0.59364	0.27	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73830	0.3637	L	0.52266	1.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.993;1.0	T	0.73877	-0.3844	10	0.87932	D	0	-22.5924	20.422	0.99049	0.0:1.0:0.0:0.0	.	561;602;576	B4DEF9;Q59EF7;Q04724	.;.;TLE1_HUMAN	T	576	ENSP00000365682:A576T	ENSP00000365682:A576T	A	-	1	0	TLE1	83395643	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GCC		0.617	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1		NM_005077	
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr17:7577097C>A	ENST00000269305.4	-	8	1030	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000445888.2_Missense_Mutation_p.D281Y|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y|TP53_ENST00000420246.2_Missense_Mutation_p.D281Y	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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GTGCGCCGGTCTCTCCCAGGA	0.547		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	86	Substitution - Missense(61)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(2)|Complex - insertion inframe(2)	lung(14)|breast(13)|upper_aerodigestive_tract(8)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(8)|large_intestine(6)|ovary(5)|bone(5)|liver(5)|stomach(4)|central_nervous_system(3)|kidney(2)|skin(2)|biliary_tract(1)|endometrium(1)|oesophagus(1)	GRCh37	CM076566	TP53	M							80.0	69.0	73.0					17																	7577097		2203	4300	6503	SO:0001583	missense	7157	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;	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.841G>T	17.37:g.7577097C>A	ENSP00000269305:p.Asp281Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892841	0.91889	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	5.13	5.13	0.70059	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	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96400	0.9296	10	0.87932	D	0	-25.6697	16.1198	0.81342	0.0:1.0:0.0:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	281;281;281;281;281;270;149	ENSP00000352610:D281Y;ENSP00000269305:D281Y;ENSP00000398846:D281Y;ENSP00000391127:D281Y;ENSP00000391478:D281Y;ENSP00000425104:D149Y	ENSP00000269305:D281Y	D	-	1	0	TP53	7517822	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAC		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546	
TRIM62	55223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33612891	33612891	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:33612891A>G	ENST00000291416.5	-	5	1548	c.1315T>C	c.(1315-1317)Tac>Cac	p.Y439H	TRIM62_ENST00000543586.1_Missense_Mutation_p.Y318H	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	439	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.Y439H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CGGAAGGTGTAGAGCCAGGAC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											120.0	104.0	109.0					1																	33612891		2203	4300	6503	SO:0001583	missense	55223			BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1315T>C	1.37:g.33612891A>G	ENSP00000291416:p.Tyr439His	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	CCDS376.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424023	0.83667	.	.	ENSG00000116525	ENST00000291416;ENST00000543586	T;T	0.61859	0.07;0.07	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74523	-0.3637	10	0.49607	T	0.09	.	13.7214	0.62730	1.0:0.0:0.0:0.0	.	439	Q9BVG3	TRI62_HUMAN	H	439;318	ENSP00000291416:Y439H;ENSP00000441173:Y318H	ENSP00000291416:Y439H	Y	-	1	0	TRIM62	33385478	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.133000	0.65898	0.402000	0.26972	TAC		0.557	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1		NM_018207	
TUBBP5	643224	broad.mit.edu	37	9	141071478	141071478	+	RNA	SNP	G	G	C	rs369023307		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr9:141071478G>C	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.S366T(1)									ATGTCAGCCAGCTTCATTGGG	0.507																																																	1	Substitution - Missense(1)	kidney(1)																																										643224			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071478G>C		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000503395.1	37																																																																																					0.507	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1		NR_027156	
UBR4	23352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19447690	19447690	+	Silent	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:19447690C>T	ENST00000375254.3	-	68	10161	c.10134G>A	c.(10132-10134)gaG>gaA	p.E3378E	UBR4_ENST00000375218.3_5'Flank|UBR4_ENST00000375217.2_Silent_p.E3371E|UBR4_ENST00000375226.2_Silent_p.E3354E|UBR4_ENST00000375267.2_Silent_p.E3378E	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3378					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E3378E(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TACCATCTTTCTCCTTTTCTT	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	74.0	73.0					1																	19447690		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10134G>A	1.37:g.19447690C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765	
SMG1P7	100506060	broad.mit.edu	37	16	70268080	70268081	+	RNA	DNP	TG	TG	CA			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr16:70268080_70268081TG>CA	ENST00000459379.1	-	0	0																											GTCTTACTGTTGGCTAAAAGGC	0.376																																																	0																																												0																														Exception_encountered	16.37:g.70268080_70268081delinsCA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.376	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
USP51	158880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	55514285	55514285	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chrX:55514285C>G	ENST00000500968.3	-	2	1170	c.1088G>C	c.(1087-1089)aGa>aCa	p.R363T	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	363	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R363T(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GATTAGCCCTCTCAGGCCTAC	0.408																																																	1	Substitution - Missense(1)	kidney(1)											112.0	109.0	110.0					X																	55514285		2203	4300	6503	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1088G>C	X.37:g.55514285C>G	ENSP00000423333:p.Arg363Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	17.38	3.374862	0.61735	.	.	ENSG00000247746	ENST00000500968	T	0.02682	4.2	3.72	3.72	0.42706	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	U	0.000000	T	0.09686	0.0238	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07790	-1.0754	10	0.49607	T	0.09	.	12.4273	0.55556	0.0:1.0:0.0:0.0	.	363	Q70EK9	UBP51_HUMAN	T	363	ENSP00000423333:R363T	ENSP00000423333:R363T	R	-	2	0	USP51	55531010	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.710000	0.74670	1.869000	0.54173	0.508000	0.49915	AGA		0.408	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2		NM_201286	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191479	10191479	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr3:10191479C>G	ENST00000256474.2	+	3	1312	c.472C>G	c.(472-474)Ctg>Gtg	p.L158V	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.L117V	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex). {ECO:0000269|PubMed:10635329, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> V (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L158V(12)|p.V155fs*15(2)|p.L158_K159del(1)|p.T157fs*14(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158fs*1(1)|p.L158fs*15(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGTGTATACTCTGAAAGAGCG	0.498		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	24	Substitution - Missense(12)|Deletion - Frameshift(7)|Deletion - In frame(3)|Complex - deletion inframe(1)|Insertion - Frameshift(1)	kidney(23)|soft_tissue(1)	GRCh37	CM941380	VHL	M							89.0	81.0	84.0					3																	10191479		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.472C>G	3.37:g.10191479C>G	ENSP00000256474:p.Leu158Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090345	0.55968	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99830	-7.01;-7.01	4.86	3.07	0.35406	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000003	D	0.99680	0.9880	M	0.75777	2.31	0.39234	D	0.963723	D;D	0.76494	0.999;0.99	D;D	0.80764	0.994;0.992	D	0.98323	1.0529	10	0.87932	D	0	-5.6982	9.2424	0.37504	0.0:0.8287:0.0:0.1713	.	117;158	P40337-2;P40337	.;VHL_HUMAN	V	158;117;76	ENSP00000256474:L158V;ENSP00000344757:L117V	ENSP00000256474:L158V	L	+	1	2	VHL	10166479	0.995000	0.38212	0.989000	0.46669	0.613000	0.37349	1.729000	0.38115	0.765000	0.33221	0.655000	0.94253	CTG		0.498	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WBSCR17	64409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	71142217	71142217	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:71142217G>C	ENST00000333538.5	+	9	2060	c.1426G>C	c.(1426-1428)Gac>Cac	p.D476H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	476	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D476H(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAAGGCAAAAGACGTCTGCTT	0.547																																																	1	Substitution - Missense(1)	kidney(1)											233.0	232.0	232.0					7																	71142217		2203	4300	6503	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1426G>C	7.37:g.71142217G>C	ENSP00000329654:p.Asp476His	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174138	0.38413	.	.	ENSG00000185274	ENST00000333538	T	0.32272	1.46	5.2	5.2	0.72013	Ricin B-related lectin (1);Ricin B lectin (3);	0.254115	0.39083	N	0.001474	T	0.24890	0.0604	N	0.16266	0.395	0.39250	D	0.96401	B	0.24092	0.097	B	0.30105	0.111	T	0.09015	-1.0694	10	0.44086	T	0.13	.	17.9178	0.88957	0.0:0.0:1.0:0.0	.	476	Q6IS24	GLTL3_HUMAN	H	476	ENSP00000329654:D476H	ENSP00000329654:D476H	D	+	1	0	WBSCR17	70780153	1.000000	0.71417	0.960000	0.40013	0.988000	0.76386	4.504000	0.60414	2.692000	0.91855	0.650000	0.86243	GAC		0.547	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1		NM_022479	
WDR33	55339	hgsc.bcm.edu;ucsc.edu	37	2	128480195	128480195	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr2:128480195delA	ENST00000322313.4	-	14	1646	c.1488delT	c.(1486-1488)tatfs	p.Y496fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	496					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGGTTTTGCATAAGGAACTT	0.408																																																	0													230.0	213.0	219.0					2																	128480195		2203	4300	6503	SO:0001589	frameshift_variant	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1488delT	2.37:g.128480195delA	ENSP00000325377:p.Tyr496fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Del	DEL	ENST00000322313.4	37	CCDS2150.1																																																																																				0.408	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2		NM_018383	
WDR87	83889	hgsc.bcm.edu	37	19	38377432	38377432	+	Silent	SNP	T	T	C	rs536575524	byFrequency	TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:38377432T>C	ENST00000303868.5	-	6	6986	c.6762A>G	c.(6760-6762)gaA>gaG	p.E2254E	WDR87_ENST00000447313.2_Silent_p.E2293E	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	2254	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						ccctttcctcttcttcctccc	0.483													T|||	33	0.00658946	0.0038	0.0014	5008	,	,		15065	0.0		0.0119	False		,,,				2504	0.0153																0													60.0	45.0	50.0					19																	38377432		692	1591	2283	SO:0001819	synonymous_variant	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.6762A>G	19.37:g.38377432T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BWV9	Silent	SNP	ENST00000303868.5	37	CCDS46063.1																																																																																				0.483	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2		XM_940478	
WFIKKN2	124857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48918195	48918195	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr17:48918195C>G	ENST00000311378.4	+	2	2074	c.1546C>G	c.(1546-1548)Ccc>Gcc	p.P516A	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P423A|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	516	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P516A(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTGGGCATGCCCCTGCCCCAA	0.612																																																	1	Substitution - Missense(1)	kidney(1)											73.0	49.0	57.0					17																	48918195		2203	4300	6503	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1546C>G	17.37:g.48918195C>G	ENSP00000311184:p.Pro516Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299746	0.81136	.	.	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	T;T	0.33438	1.41;1.41	5.12	5.12	0.69794	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (1);	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64343	-0.6430	10	0.87932	D	0	.	18.9277	0.92552	0.0:1.0:0.0:0.0	.	516	Q8TEU8	WFKN2_HUMAN	A	423;516;222	ENSP00000405889:P423A;ENSP00000311184:P516A	ENSP00000311184:P516A	P	+	1	0	WFIKKN2	46273194	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.765000	0.85310	2.539000	0.85634	0.561000	0.74099	CCC		0.612	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1		NM_175575	
ZFAND2B	130617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220073018	220073018	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr2:220073018A>G	ENST00000289528.5	+	5	670	c.475A>G	c.(475-477)Agc>Ggc	p.S159G	ZFAND2B_ENST00000409336.1_Missense_Mutation_p.S159G|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.S159G|ZFAND2B_ENST00000409594.1_Missense_Mutation_p.S159G|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.S159G|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.S159G|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.S159G	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	159						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)	p.S159G(1)		endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTCTACAAGCACTGTCCC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											97.0	78.0	84.0					2																	220073018		2203	4300	6503	SO:0001583	missense	130617			AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"""Zinc fingers, AN1-type domain containing"""	25206	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein-like"""	613474	"""zinc finger, AN1-type 2B"""			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.475A>G	2.37:g.220073018A>G	ENSP00000289528:p.Ser159Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NB98	Missense_Mutation	SNP	ENST00000289528.5	37	CCDS2435.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597171	0.28445	.	.	ENSG00000158552	ENST00000409206;ENST00000409594;ENST00000289528;ENST00000422255;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000444522	T;T;T;T;T;T;T;T	0.47528	0.87;0.87;0.86;0.84;0.84;0.86;0.87;0.84	5.18	4.0	0.46444	.	0.413807	0.27739	N	0.018043	T	0.33206	0.0855	L	0.38175	1.15	0.09310	N	1	B;B;B	0.24426	0.103;0.0;0.009	B;B;B	0.15484	0.013;0.001;0.007	T	0.12016	-1.0564	10	0.36615	T	0.2	-15.3354	7.7542	0.28915	0.9048:0.0:0.0952:0.0	.	50;159;159	B3KQB0;Q8WV99;B4DEN4	.;ZFN2B_HUMAN;.	G	159	ENSP00000386824:S159G;ENSP00000386399:S159G;ENSP00000289528:S159G;ENSP00000409931:S159G;ENSP00000387179:S159G;ENSP00000386898:S159G;ENSP00000386370:S159G;ENSP00000411334:S159G	ENSP00000289528:S159G	S	+	1	0	ZFAND2B	219781262	0.006000	0.16342	0.519000	0.27824	0.559000	0.35586	0.732000	0.26072	2.165000	0.68154	0.533000	0.62120	AGC		0.547	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2		NM_138802	
ZNF28	7576	broad.mit.edu	37	19	53321205	53321205	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:53321205G>C	ENST00000457749.2	-	2	126	c.7C>G	c.(7-9)Ctt>Gtt	p.L3V	ZNF28_ENST00000414252.2_5'UTR|ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000594602.1_Missense_Mutation_p.L3V	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L3V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACCTGAGGAAGAGCCATCCCT	0.463																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	7576			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.7C>G	19.37:g.53321205G>C	ENSP00000397693:p.Leu3Val	Somatic		WXS	Illumina GAIIx	Phase_I	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	6.598	0.478756	0.12521	.	.	ENSG00000198538	ENST00000457749	T	0.00816	5.66	0.858	-0.283	0.12874	Krueppel-associated box (1);	.	.	.	.	T	0.01353	0.0044	N	0.16790	0.44	0.80722	D	1	P	0.46578	0.88	P	0.62184	0.899	T	0.71151	-0.4676	9	0.45353	T	0.12	.	3.2532	0.06822	0.3177:0.0:0.6823:0.0	.	3	P17035	ZNF28_HUMAN	V	3	ENSP00000397693:L3V	ENSP00000397693:L3V	L	-	1	0	ZNF28	58013017	0.000000	0.05858	0.046000	0.18839	0.250000	0.25880	-1.696000	0.01912	-0.031000	0.13781	0.134000	0.15878	CTT		0.463	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2		NM_006969	
ZNF318	24149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43304999	43304999	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:43304999C>T	ENST00000361428.2	-	10	6814	c.6737G>A	c.(6736-6738)aGg>aAg	p.R2246K	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2246					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R2246K(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TACCTGCTCCCTTGGAGGGGA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											106.0	94.0	98.0					6																	43304999		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6737G>A	6.37:g.43304999C>T	ENSP00000354964:p.Arg2246Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	1.573	-0.533632	0.04082	.	.	ENSG00000171467	ENST00000361428	T	0.11277	2.79	5.93	1.58	0.23477	.	0.411820	0.23894	N	0.043520	T	0.01558	0.0050	N	0.20986	0.625	0.09310	N	0.999999	B	0.16603	0.018	B	0.16722	0.016	T	0.48127	-0.9062	10	0.18276	T	0.48	-1.7191	4.147	0.10220	0.161:0.4826:0.0:0.3565	.	2246	Q5VUA4	ZN318_HUMAN	K	2246	ENSP00000354964:R2246K	ENSP00000354964:R2246K	R	-	2	0	ZNF318	43412977	0.002000	0.14202	0.062000	0.19696	0.261000	0.26267	0.095000	0.15127	0.124000	0.18369	-0.797000	0.03246	AGG		0.498	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2		NM_014345	
ZNF479	90827	broad.mit.edu	37	7	57188569	57188569	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:57188569A>T	ENST00000331162.4	-	5	823	c.553T>A	c.(553-555)Ttc>Atc	p.F185I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	185					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.F185I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTACATTTGAAATGTTTATTT	0.294																																																	1	Substitution - Missense(1)	kidney(1)											68.0	65.0	66.0					7																	57188569		1951	4162	6113	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.553T>A	7.37:g.57188569A>T	ENSP00000333776:p.Phe185Ile	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	a	9.024	0.985501	0.18889	.	.	ENSG00000185177	ENST00000331162	T	0.32515	1.45	0.946	0.946	0.19549	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32224	0.0822	M	0.89163	3.01	0.09310	N	1	P	0.39282	0.666	B	0.30179	0.112	T	0.30563	-0.9974	9	0.59425	D	0.04	.	5.7317	0.18042	1.0:0.0:0.0:0.0	.	185	Q96JC4	ZN479_HUMAN	I	185	ENSP00000333776:F185I	ENSP00000333776:F185I	F	-	1	0	ZNF479	57192511	0.151000	0.22747	0.004000	0.12327	0.004000	0.04260	1.397000	0.34543	0.339000	0.23719	0.329000	0.21502	TTC		0.294	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1		XM_291202	
ZNF608	57507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	123983986	123983986	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr5:123983986C>T	ENST00000306315.5	-	4	2526	c.2091G>A	c.(2089-2091)atG>atA	p.M697I	ZNF608_ENST00000504926.1_Missense_Mutation_p.M270I	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	697							metal ion binding (GO:0046872)	p.M697I(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCAGTTTAGGCATCTCAGCAG	0.438																																																	1	Substitution - Missense(1)	kidney(1)											89.0	89.0	89.0					5																	123983986		2203	4300	6503	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2091G>A	5.37:g.123983986C>T	ENSP00000307746:p.Met697Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270576	0.80469	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.46451	0.88;0.87	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	L	0.56769	1.78	0.80722	D	1	D	0.62365	0.991	P	0.56751	0.805	T	0.40924	-0.9537	10	0.13853	T	0.58	-22.9826	20.2315	0.98350	0.0:1.0:0.0:0.0	.	697	Q9ULD9	ZN608_HUMAN	I	270;697;697;697	ENSP00000427657:M270I;ENSP00000307746:M697I	ENSP00000307746:M697I	M	-	3	0	ZNF608	124011885	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.802000	0.85969	2.784000	0.95788	0.551000	0.68910	ATG		0.438	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1		XM_114432	
ZNF92	168374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	64864567	64864567	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:64864567delT	ENST00000328747.7	+	4	1739	c.1540delT	c.(1540-1542)tgtfs	p.C514fs	ZNF92_ENST00000431504.1_Frame_Shift_Del_p.C438fs|ZNF92_ENST00000357512.2_Frame_Shift_Del_p.C482fs|ZNF92_ENST00000450302.2_Frame_Shift_Del_p.C445fs	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	514					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ATGTGAAAAATGTGGCAATGC	0.348																																																	0													48.0	55.0	52.0					7																	64864567		2203	4298	6501	SO:0001589	frameshift_variant	168374			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1540delT	7.37:g.64864567delT	ENSP00000332595:p.Cys514fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NNF9|Q8N492|Q8NB35	Frame_Shift_Del	DEL	ENST00000328747.7	37	CCDS34646.1																																																																																				0.348	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2		NM_152626	
TP53	7157	broad.mit.edu	37	17	7577565	7577565	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr17:7577565T>C	ENST00000269305.4	-	7	905	c.716A>G	c.(715-717)aAc>aGc	p.N239S	TP53_ENST00000445888.2_Missense_Mutation_p.N239S|TP53_ENST00000455263.2_Missense_Mutation_p.N239S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.N239S|TP53_ENST00000359597.4_Missense_Mutation_p.N239S|TP53_ENST00000420246.2_Missense_Mutation_p.N239S	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	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.N239S(28)|p.0?(8)|p.?(5)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.N239fs*25(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.N239fs*>48(1)|p.N146fs*>10(1)|p.N239_C242del(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)	GCAGGAACTGTTACACATGTA	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)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	76	Substitution - Missense(36)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(4)|Substitution - Nonsense(1)|Insertion - In frame(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	biliary_tract(10)|urinary_tract(6)|lung(6)|ovary(6)|upper_aerodigestive_tract(5)|haematopoietic_and_lymphoid_tissue(5)|oesophagus(5)|breast(5)|bone(5)|central_nervous_system(4)|large_intestine(4)|endometrium(4)|kidney(4)|stomach(3)|thyroid(1)|soft_tissue(1)|liver(1)|pancreas(1)											135.0	105.0	115.0					17																	7577565		2203	4300	6503	SO:0001583	missense	7157	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;	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.716A>G	17.37:g.7577565T>C	ENSP00000269305:p.Asn239Ser	Somatic		WXS	Illumina GAIIx	Phase_I	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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565663	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	4.62	4.62	0.57501	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	0.99736	0.9896	M	0.87381	2.88	0.58432	D	0.999991	D;B;D;D;D;D	0.89917	0.988;0.31;0.999;0.98;0.99;1.0	P;B;D;P;P;D	0.87578	0.826;0.104;0.981;0.815;0.891;0.998	D	0.97237	0.9888	10	0.87932	D	0	-35.9081	12.3101	0.54924	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239S;ENSP00000352610:N239S;ENSP00000269305:N239S;ENSP00000398846:N239S;ENSP00000391127:N239S;ENSP00000391478:N239S;ENSP00000425104:N107S;ENSP00000423862:N146S	ENSP00000269305:N239S	N	-	2	0	TP53	7518290	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546	
