#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
AR	367	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	66765719	66765719	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chrX:66765719C>T	ENST00000374690.3	+	1	1255	c.731C>T	c.(730-732)tCg>tTg	p.S244L	AR_ENST00000396044.3_Missense_Mutation_p.S244L|AR_ENST00000504326.1_Missense_Mutation_p.S244L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	242	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S244L(1)|p.S54L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AAGGCAGTGTCGGTGTCCATG	0.597									Androgen Insensitivity Syndrome																																								2	Substitution - Missense(2)	kidney(2)											86.0	75.0	79.0					X																	66765719		2203	4300	6503	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.731C>T	X.37:g.66765719C>T	ENSP00000363822:p.Ser244Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.070400	0.76301	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95518	-3.73;-3.73;-3.73	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	M	0.93462	3.42	0.41971	D	0.990759	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.995;0.998;0.996	D	0.99636	1.0987	10	0.87932	D	0	.	14.2959	0.66314	0.0:1.0:0.0:0.0	.	244;244;242	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	54;244;244;244;236	ENSP00000363822:S244L;ENSP00000421155:S244L;ENSP00000379359:S244L	ENSP00000363822:S244L	S	+	2	0	AR	66682444	0.997000	0.39634	0.997000	0.53966	0.992000	0.81027	4.749000	0.62155	2.247000	0.74100	0.509000	0.49947	TCG		0.597	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1		NM_000044	
ATP6V1B1	525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	71190718	71190718	+	Silent	SNP	C	C	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr2:71190718C>A	ENST00000234396.4	+	11	1150	c.1077C>A	c.(1075-1077)atC>atA	p.I359I	ATP6V1B1_ENST00000412314.1_Silent_p.I342I|RN7SL160P_ENST00000468558.2_RNA|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	359					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)	p.I359I(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCCACCCTATCCCAGACTTGA	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											160.0	120.0	134.0					2																	71190718		2203	4300	6503	SO:0001819	synonymous_variant	525			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1077C>A	2.37:g.71190718C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q53FY0|Q6P4H6	Silent	SNP	ENST00000234396.4	37	CCDS1912.1																																																																																				0.562	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2		NM_001692	
C1orf123	54987	broad.mit.edu;hgsc.bcm.edu	37	1	53686011	53686011	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr1:53686011G>C	ENST00000294360.4	-	2	53	c.12C>G	c.(10-12)atC>atG	p.I4M	C1orf123_ENST00000470385.1_5'UTR|RP5-1024G6.7_ENST00000569869.1_RNA	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	4						extracellular vesicular exosome (GO:0070062)		p.I4M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						GTTGCAGCGCGATTTTCTGAG	0.706																																																	1	Substitution - Missense(1)	kidney(1)											56.0	59.0	58.0					1																	53686011		2203	4300	6503	SO:0001583	missense	54987			BC010908	CCDS576.1	1p32.3	2011-02-18			ENSG00000162384	ENSG00000162384			26059	protein-coding gene	gene with protein product						12477932	Standard	NM_017887		Approved	FLJ20580	uc001cvd.3	Q9NWV4	OTTHUMG00000008940	ENST00000294360.4:c.12C>G	1.37:g.53686011G>C	ENSP00000294360:p.Ile4Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000294360.4	37	CCDS576.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745421	0.49151	.	.	ENSG00000162384	ENST00000294360;ENST00000371480	.	.	.	6.07	-3.73	0.04398	.	0.161546	0.53938	D	0.000055	T	0.62208	0.2409	M	0.71581	2.175	0.42902	D	0.994237	D	0.65815	0.995	D	0.68483	0.958	T	0.62091	-0.6927	9	0.87932	D	0	-20.6019	1.6496	0.02769	0.2941:0.0964:0.4113:0.1982	.	4	Q9NWV4	CA123_HUMAN	M	4	.	ENSP00000294360:I4M	I	-	3	3	C1orf123	53458599	0.992000	0.36948	0.939000	0.37840	0.003000	0.03518	0.247000	0.18179	-0.622000	0.05626	-0.826000	0.03091	ATC		0.706	C1orf123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024751.1		NM_017887	
CAMKK2	10645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121712085	121712085	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr12:121712085G>C	ENST00000324774.5	-	2	1073	c.245C>G	c.(244-246)cCc>cGc	p.P82R	CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P82R|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P82R|CAMKK2_ENST00000446440.2_Missense_Mutation_p.P82R|CAMKK2_ENST00000392474.2_Missense_Mutation_p.P82R|CAMKK2_ENST00000392473.2_Missense_Mutation_p.P82R|CAMKK2_ENST00000538733.1_Missense_Mutation_p.P82R|CAMKK2_ENST00000337174.3_Missense_Mutation_p.P82R|CAMKK2_ENST00000404169.3_Missense_Mutation_p.P82R|CAMKK2_ENST00000412367.2_Missense_Mutation_p.P82R	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	82					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)	p.P82R(2)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGTGTCAAGGGGGACCTCTTG	0.697																																																	2	Substitution - Missense(2)	kidney(2)											21.0	25.0	24.0					12																	121712085		2200	4298	6498	SO:0001583	missense	10645			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.245C>G	12.37:g.121712085G>C	ENSP00000312741:p.Pro82Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	G	5.531	0.282826	0.10458	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473;ENST00000543477;ENST00000544485	D;D;D;D;D;D;D;D;D;T;T	0.84800	-1.73;-1.87;-1.65;-1.65;-1.9;-1.65;-1.9;-1.65;-1.63;0.42;0.64	5.09	4.2	0.49525	.	0.695480	0.13132	N	0.411367	T	0.72391	0.3454	L	0.27053	0.805	0.09310	N	1	P;B;B;P;B;B;B	0.37636	0.589;0.302;0.202;0.603;0.302;0.09;0.145	B;B;B;B;B;B;B	0.32465	0.076;0.117;0.048;0.146;0.101;0.047;0.101	T	0.63985	-0.6513	10	0.48119	T	0.1	-0.0259	4.9752	0.14136	0.2428:0.1576:0.5995:0.0	.	82;82;82;82;82;82;82	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	R	82;82;82;82;82;82;82;65;82;82;82;82	ENSP00000376266:P82R;ENSP00000321230:P82R;ENSP00000445944:P82R;ENSP00000336634:P82R;ENSP00000312741:P82R;ENSP00000388368:P82R;ENSP00000384600:P82R;ENSP00000388273:P82R;ENSP00000376265:P82R;ENSP00000444894:P82R;ENSP00000445400:P82R	ENSP00000312741:P82R	P	-	2	0	CAMKK2	120196468	0.896000	0.30565	0.034000	0.17996	0.059000	0.15707	2.216000	0.42871	1.283000	0.44513	0.462000	0.41574	CCC		0.697	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1		NM_172226	
CCDC125	202243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	68581285	68581285	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr5:68581285G>C	ENST00000396496.2	-	11	1216	c.1109C>G	c.(1108-1110)tCa>tGa	p.S370*	CCDC125_ENST00000396499.1_Nonsense_Mutation_p.S370*|CCDC125_ENST00000383374.2_Missense_Mutation_p.H275D|CCDC125_ENST00000511257.1_Nonsense_Mutation_p.S245*|CCDC125_ENST00000460090.1_5'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	370						cytoplasm (GO:0005737)		p.S370*(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		ACTCCTTGGTGATGGAAATCC	0.433																																																	1	Substitution - Nonsense(1)	kidney(1)											115.0	110.0	112.0					5																	68581285		2203	4300	6503	SO:0001587	stop_gained	202243			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.1109C>G	5.37:g.68581285G>C	ENSP00000379754:p.Ser370*	Somatic		WXS	Illumina HiSeq	Phase_I	Q86Z19	Nonsense_Mutation	SNP	ENST00000396496.2	37	CCDS4000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.350221|5.350221	0.95830|0.95830	.|.	.|.	ENSG00000183323|ENSG00000183323	ENST00000383374|ENST00000396496;ENST00000396499;ENST00000511257	T|.	0.42131|.	0.98|.	5.88|5.88	4.08|4.08	0.47627|0.47627	.|.	.|0.641166	.|0.15399	.|N	.|0.264398	T|.	0.63200|.	0.2491|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69982|.	-0.4997|.	5|.	0.72032|0.45353	D|T	0.01|0.12	-0.1707|-0.1707	12.4115|12.4115	0.55469|0.55469	0.1226:0.0:0.8774:0.0|0.1226:0.0:0.8774:0.0	.|.	.|.	.|.	.|.	D|X	275|370;370;245	ENSP00000372865:H275D|.	ENSP00000372865:H275D|ENSP00000379754:S370X	H|S	-|-	1|2	0|0	CCDC125|CCDC125	68617041|68617041	0.020000|0.020000	0.18652|0.18652	0.012000|0.012000	0.15200|0.15200	0.013000|0.013000	0.08279|0.08279	1.088000|1.088000	0.30877|0.30877	2.788000|2.788000	0.95919|0.95919	0.555000|0.555000	0.69702|0.69702	CAC|TCA		0.433	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4		NM_176816	
CATSPER3	347732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	134344575	134344575	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr5:134344575A>C	ENST00000282611.6	+	5	806	c.720A>C	c.(718-720)gaA>gaC	p.E240D		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	240					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.E240D(1)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACAATCGGGAATTTGCTTTGA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											241.0	209.0	220.0					5																	134344575		2203	4300	6503	SO:0001583	missense	347732			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.720A>C	5.37:g.134344575A>C	ENSP00000282611:p.Glu240Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	A	5.817	0.334996	0.11013	.	.	ENSG00000152705	ENST00000282611	D	0.98550	-4.99	5.35	-10.7	0.00240	Ion transport (1);	0.925493	0.09164	N	0.839736	D	0.91676	0.7369	N	0.25332	0.735	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.82004	-0.0672	10	0.28530	T	0.3	-4.0508	1.5076	0.02489	0.2226:0.3214:0.2479:0.208	.	240	Q86XQ3	CTSR3_HUMAN	D	240	ENSP00000282611:E240D	ENSP00000282611:E240D	E	+	3	2	CATSPER3	134372474	0.001000	0.12720	0.000000	0.03702	0.096000	0.18686	-0.501000	0.06398	-2.352000	0.00616	-1.400000	0.01143	GAA		0.537	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2		NM_178019	
CCDC88A	55704	broad.mit.edu	37	2	55562094	55562094	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr2:55562094T>G	ENST00000436346.1	-	15	2704	c.1863A>C	c.(1861-1863)aaA>aaC	p.K621N	AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.K621N|CCDC88A_ENST00000413716.2_Missense_Mutation_p.K621N|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.K621N|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	621					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.K621N(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CTCCTTTTTCTTTATAATGTT	0.239																																																	2	Substitution - Missense(2)	kidney(2)											29.0	27.0	27.0					2																	55562094		2199	4294	6493	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1863A>C	2.37:g.55562094T>G	ENSP00000410608:p.Lys621Asn	Somatic		WXS	Illumina GAIIx	Phase_I	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	T	15.35	2.806731	0.50421	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.18	4.02	0.46733	.	0.000000	0.51477	U	0.000096	T	0.45458	0.1343	L	0.52126	1.63	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.954;0.996;0.998	T	0.32481	-0.9905	10	0.56958	D	0.05	-24.4493	8.2178	0.31524	0.0:0.1546:0.0:0.8454	.	621;621;621	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	N	621	ENSP00000338728:K621N;ENSP00000263630:K621N;ENSP00000410608:K621N;ENSP00000404431:K621N	ENSP00000263630:K621N	K	-	3	2	CCDC88A	55415598	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.898000	0.39809	0.808000	0.34231	-0.379000	0.06801	AAA		0.239	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding			NM_017571	
CNOT1	23019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	58555184	58555184	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr16:58555184G>A	ENST00000317147.5	-	48	7287	c.6955C>T	c.(6955-6957)Cct>Tct	p.P2319S	CNOT1_ENST00000245138.4_Missense_Mutation_p.P1170S|CNOT1_ENST00000569240.1_Missense_Mutation_p.P2314S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2319					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.P2319S(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGACCCCAAGGATGTGGCCTA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											89.0	93.0	91.0					16																	58555184		2198	4300	6498	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6955C>T	16.37:g.58555184G>A	ENSP00000320949:p.Pro2319Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006122	0.93287	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000245138	T	0.73363	-0.74	5.91	5.91	0.95273	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91240	0.7239	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93251	0.6635	10	0.87932	D	0	-14.8605	19.2867	0.94077	0.0:0.0:1.0:0.0	.	1170;2319;2314	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	S	2319;1013;1170	ENSP00000320949:P2319S	ENSP00000245138:P1170S	P	-	1	0	CNOT1	57112685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.631000	0.98424	2.793000	0.96121	0.655000	0.94253	CCT		0.388	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284	
CMTM4	146223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	66670397	66670397	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr16:66670397A>G	ENST00000330687.4	-	2	455	c.274T>C	c.(274-276)Tgc>Cgc	p.C92R	CMTM4_ENST00000563952.1_Missense_Mutation_p.C63R|CMTM4_ENST00000394106.2_Missense_Mutation_p.C92R	NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	92	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.C92R(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		AACGCACTGCAGCTCACAAAC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											114.0	94.0	101.0					16																	66670397		2201	4300	6501	SO:0001583	missense	146223			AF479814	CCDS10817.1, CCDS42170.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000183723	ENSG00000183723			19175	protein-coding gene	gene with protein product		607887	"""chemokine-like factor super family 4"", ""chemokine-like factor superfamily 4"""	CKLFSF4		12782130	Standard	NM_178818		Approved		uc002epz.3	Q8IZR5	OTTHUMG00000137500	ENST00000330687.4:c.274T>C	16.37:g.66670397A>G	ENSP00000333833:p.Cys92Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q52M40|Q8IZR4|Q8IZV1	Missense_Mutation	SNP	ENST00000330687.4	37	CCDS10817.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184433	0.78677	.	.	ENSG00000183723	ENST00000330687;ENST00000394106	T;T	0.25579	1.79;1.79	5.97	5.97	0.96955	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44697	-0.9311	10	0.72032	D	0.01	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	92	Q8IZR5	CKLF4_HUMAN	R	92	ENSP00000333833:C92R;ENSP00000377666:C92R	ENSP00000333833:C92R	C	-	1	0	CMTM4	65227898	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	8.874000	0.92363	2.288000	0.76882	0.533000	0.62120	TGC		0.478	CMTM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268807.1			
CTNND2	1501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	10988319	10988319	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr5:10988319G>T	ENST00000304623.8	-	20	3436	c.3247C>A	c.(3247-3249)Ctc>Atc	p.L1083I	CTNND2_ENST00000511377.1_Missense_Mutation_p.L992I|CTNND2_ENST00000503622.1_Missense_Mutation_p.L746I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.L650I|CTNND2_ENST00000359640.2_Missense_Mutation_p.L1025I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1083					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L1083I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTTTCTTTGAGGCTGATCATT	0.512											OREG0016517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											189.0	162.0	171.0					5																	10988319		2203	4300	6503	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3247C>A	5.37:g.10988319G>T	ENSP00000307134:p.Leu1083Ile	Somatic	668	WXS	Illumina HiSeq	Phase_I	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814614	0.32053	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79653	-1.09;-1.19;-1.09;-1.29;-1.28	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	N	0.24115	0.695	0.58432	D	0.999992	D;D;D	0.63880	0.993;0.993;0.982	D;D;D	0.70016	0.967;0.967;0.952	T	0.73704	-0.3899	10	0.10902	T	0.67	-16.8602	12.5281	0.56098	0.1193:0.0:0.8807:0.0	.	746;675;1083	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	I	1083;1025;992;178;650;746	ENSP00000307134:L1083I;ENSP00000352661:L1025I;ENSP00000426510:L992I;ENSP00000391155:L650I;ENSP00000426887:L746I	ENSP00000307134:L1083I	L	-	1	0	CTNND2	11041319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.643000	0.37217	2.697000	0.92050	0.655000	0.94253	CTC		0.512	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1		NM_001332	
DCAF11	80344	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24588354	24588354	+	Splice_Site	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr14:24588354G>C	ENST00000446197.3	+	9	1507	c.780G>C	c.(778-780)agG>agC	p.R260S	DCAF11_ENST00000396941.4_Splice_Site_p.R234S|DCAF11_ENST00000396936.1_Splice_Site_p.R160S|DCAF11_ENST00000559115.1_Splice_Site_p.R260S|RP11-468E2.6_ENST00000558325.1_5'Flank	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	260					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.R260S(1)									TTGCTTTTAGGCCAGATGAGC	0.463																																																	1	Substitution - Missense(1)	kidney(1)											173.0	163.0	166.0					14																	24588354		2203	4300	6503	SO:0001630	splice_region_variant	80344			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.780-1G>C	14.37:g.24588354G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	g	4.745	0.138537	0.09083	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.01279	5.06;5.06	5.53	3.72	0.42706	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.146358	0.64402	D	0.000008	T	0.00496	0.0016	N	0.00504	-1.425	0.40314	D	0.978756	B;B;B;B;B	0.17667	0.012;0.023;0.004;0.012;0.005	B;B;B;B;B	0.16289	0.01;0.015;0.008;0.003;0.004	T	0.51252	-0.8729	9	.	.	.	.	5.7446	0.18112	0.1687:0.16:0.6713:0.0	.	183;234;160;260;260	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	S	260;234;160;234	ENSP00000380142:R160S;ENSP00000380146:R234S	.	R	+	3	2	DCAF11	23658194	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.294000	0.33365	0.901000	0.36495	0.643000	0.83706	AGG		0.463	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			Missense_Mutation
DHCR7	1717	broad.mit.edu;hgsc.bcm.edu	37	11	71153366	71153366	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr11:71153366G>C	ENST00000355527.3	-	5	631	c.355C>G	c.(355-357)Cat>Gat	p.H119D	DHCR7_ENST00000407721.2_Missense_Mutation_p.H119D	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	119			H -> L (in SLOS; dbSNP:rs28938174). {ECO:0000269|PubMed:11427181, ECO:0000269|PubMed:9683613}.		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.H119D(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						AGAAACTTATGGCAGAAGTCA	0.612									Smith-Lemli-Opitz syndrome																																								2	Substitution - Missense(2)	kidney(2)	GRCh37	CD051731	DHCR7	D							81.0	75.0	77.0					11																	71153366		2200	4294	6494	SO:0001583	missense	1717	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.355C>G	11.37:g.71153366G>C	ENSP00000347717:p.His119Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111737	0.56398	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000527316;ENST00000526780	D;D;D;D	0.97620	-4.46;-4.46;-4.0;-4.11	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.97907	0.9312	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.97712	1.0191	10	0.42905	T	0.14	-22.1607	13.7437	0.62862	0.0:0.0:1.0:0.0	.	119	Q9UBM7	DHCR7_HUMAN	D	119;119;131;87;119	ENSP00000384739:H119D;ENSP00000347717:H119D;ENSP00000435047:H87D;ENSP00000435668:H119D	ENSP00000347717:H119D	H	-	1	0	DHCR7	70831014	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	7.893000	0.87330	1.872000	0.54250	0.448000	0.29417	CAT		0.612	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1		NM_001360	
ELF1	1997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	41525466	41525466	+	Splice_Site	SNP	T	T	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr13:41525466T>A	ENST00000239882.3	-	4	674	c.360A>T	c.(358-360)atA>atT	p.I120I	ELF1_ENST00000442101.1_Splice_Site_p.I120I|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	120					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I120I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		ATCACTCACTTATTCGTTTTT	0.353																																																	1	Substitution - coding silent(1)	kidney(1)											90.0	84.0	86.0					13																	41525466		2203	4300	6503	SO:0001630	splice_region_variant	1997			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.361+1A>T	13.37:g.41525466T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Silent	SNP	ENST00000239882.3	37	CCDS9374.1																																																																																				0.353	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3		NM_172373	Silent
ETFDH	2110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	159627355	159627355	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr4:159627355G>C	ENST00000511912.1	+	11	1632	c.1300G>C	c.(1300-1302)Gaa>Caa	p.E434Q	ETFDH_ENST00000307738.5_Missense_Mutation_p.E387Q	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	434					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)	p.E434Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CCATGTAACTGAATATGAGGA	0.373																																																	1	Substitution - Missense(1)	kidney(1)											80.0	83.0	82.0					4																	159627355		2203	4300	6503	SO:0001583	missense	2110			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1300G>C	4.37:g.159627355G>C	ENSP00000426638:p.Glu434Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676623	0.29783	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.95412	-3.7;-3.7	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.93838	0.8029	L	0.51914	1.62	0.80722	D	1	B;B;B	0.31290	0.201;0.201;0.318	B;B;B	0.33295	0.037;0.028;0.161	D	0.91283	0.5053	10	0.20519	T	0.43	-23.6078	20.2361	0.98357	0.0:0.0:1.0:0.0	.	387;373;434	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	Q	434;387	ENSP00000426638:E434Q;ENSP00000303552:E387Q	ENSP00000303552:E387Q	E	+	1	0	ETFDH	159846805	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	7.954000	0.87848	2.791000	0.96007	0.591000	0.81541	GAA		0.373	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			
FOXO4	4303	broad.mit.edu	37	X	70320778	70320778	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chrX:70320778G>A	ENST00000374259.3	+	2	1030	c.698G>A	c.(697-699)gGc>gAc	p.G233D	FOXO4_ENST00000341558.3_Missense_Mutation_p.G178D	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	233					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G233D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AGCCCTGTCGGCCACTTTGCC	0.592											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											27.0	28.0	27.0					X																	70320778		1986	4145	6131	SO:0001583	missense	4303				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.698G>A	X.37:g.70320778G>A	ENSP00000363377:p.Gly233Asp	Somatic	1121	WXS	Illumina GAIIx	Phase_I	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	ENST00000374259.3	37	CCDS43969.1	.	.	.	.	.	.	.	.	.	.	G	5.254	0.232307	0.09969	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95788	-3.59;-3.81	5.11	4.21	0.49690	.	0.971136	0.08542	N	0.930306	D	0.91499	0.7316	L	0.36672	1.1	0.41240	D	0.986638	B;B;B	0.27823	0.19;0.161;0.002	B;B;B	0.27608	0.081;0.073;0.004	D	0.84664	0.0708	10	0.32370	T	0.25	-22.0804	6.3005	0.21109	0.1106:0.3157:0.5738:0.0	.	233;178;233	B4DTB6;P98177-2;P98177	.;.;FOXO4_HUMAN	D	233;178	ENSP00000363377:G233D;ENSP00000342209:G178D	ENSP00000342209:G178D	G	+	2	0	FOXO4	70237503	1.000000	0.71417	0.849000	0.33467	0.614000	0.37383	2.545000	0.45769	1.094000	0.41399	0.519000	0.50382	GGC		0.592	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1		NM_005938	
GABRA5	2558	broad.mit.edu;hgsc.bcm.edu	37	15	27128585	27128585	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr15:27128585C>A	ENST00000335625.5	+	6	1266	c.378C>A	c.(376-378)agC>agA	p.S126R	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.S126R|GABRA5_ENST00000400081.3_Missense_Mutation_p.S126R	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	126					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S126R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TCCTTGCCAGCAAGATCTGGA	0.552																																																	1	Substitution - Missense(1)	kidney(1)											88.0	98.0	94.0					15																	27128585		2198	4297	6495	SO:0001583	missense	2558				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.378C>A	15.37:g.27128585C>A	ENSP00000335592:p.Ser126Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223860	0.79576	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554596;ENST00000554599	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.4	3.52	0.40303	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	M	0.64630	1.985	0.58432	D	0.999993	D	0.53151	0.958	D	0.65573	0.936	T	0.83233	-0.0062	10	0.52906	T	0.07	.	11.2478	0.49006	0.0:0.8516:0.0:0.1484	.	126	P31644	GBRA5_HUMAN	R	126;126;94;126;126;126	ENSP00000335592:S126R;ENSP00000347557:S126R;ENSP00000450653:S94R;ENSP00000382953:S126R;ENSP00000450806:S126R;ENSP00000450717:S126R	ENSP00000335592:S126R	S	+	3	2	GABRA5	24679678	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.005000	0.40864	0.768000	0.33290	0.561000	0.74099	AGC		0.552	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			
GPR98	84059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	90086882	90086882	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr5:90086882G>C	ENST00000405460.2	+	70	14332	c.14236G>C	c.(14236-14238)Gag>Cag	p.E4746Q	GPR98_ENST00000425867.2_Missense_Mutation_p.E407Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4746					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E4746Q(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTGGATCTGGAGAAGAGTAT	0.443																																																	1	Substitution - Missense(1)	kidney(1)											144.0	130.0	135.0					5																	90086882		1927	4125	6052	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14236G>C	5.37:g.90086882G>C	ENSP00000384582:p.Glu4746Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	9.753	1.167928	0.21621	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.28069	1.63;1.63	5.7	5.7	0.88788	.	0.338730	0.37623	N	0.002003	T	0.31979	0.0814	L	0.35487	1.065	0.20489	N	0.999891	P;D;D	0.59357	0.93;0.985;0.958	B;P;B	0.46796	0.261;0.527;0.369	T	0.14337	-1.0476	10	0.30854	T	0.27	.	18.8129	0.92065	0.0:0.0:1.0:0.0	.	407;4746;407	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	Q	4746;4746;407	ENSP00000384582:E4746Q;ENSP00000392618:E407Q	ENSP00000296619:E4746Q	E	+	1	0	GPR98	90122638	0.992000	0.36948	0.026000	0.17262	0.003000	0.03518	4.363000	0.59473	2.696000	0.92011	0.655000	0.94253	GAG		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119	
INADL	10207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62330119	62330119	+	Silent	SNP	A	A	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr1:62330119A>G	ENST00000371158.2	+	20	2763	c.2649A>G	c.(2647-2649)tcA>tcG	p.S883S	INADL_ENST00000316485.6_Silent_p.S883S	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	883					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.S883S(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAGATCCCTCACCATCCATGG	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											144.0	140.0	141.0					1																	62330119		2203	4300	6503	SO:0001819	synonymous_variant	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2649A>G	1.37:g.62330119A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																				0.428	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2		NM_170605	
KIAA0430	9665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15724209	15724210	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr16:15724209_15724210insG	ENST00000396368.3	-	7	1709_1710	c.1503_1504insC	c.(1501-1506)cccaggfs	p.R502fs	KIAA0430_ENST00000551742.1_Frame_Shift_Ins_p.R502fs|KIAA0430_ENST00000540441.2_Frame_Shift_Ins_p.R502fs|KIAA0430_ENST00000548025.1_Frame_Shift_Ins_p.R499fs|KIAA0430_ENST00000602337.1_Frame_Shift_Ins_p.R499fs|KIAA0430_ENST00000344181.3_Frame_Shift_Ins_p.R324fs	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	502					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGTGGTAACCTGGGGGGCAAGT	0.436																																																	0																																										SO:0001589	frameshift_variant	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1504dupC	16.37:g.15724215_15724215dupG	ENSP00000379654:p.Arg502fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Frame_Shift_Ins	INS	ENST00000396368.3	37	CCDS10562.2																																																																																				0.436	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2		NM_014647	
ZSWIM8	23053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75553698	75553698	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr10:75553698T>G	ENST00000605216.1	+	12	2738	c.2521T>G	c.(2521-2523)Ttg>Gtg	p.L841V	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.L841V|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.L808V|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.L841V|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.L841V|ZSWIM8_ENST00000431225.1_3'UTR	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	841							zinc ion binding (GO:0008270)	p.L841V(2)|p.L221V(1)									GGCCTTCCTGTTGACAGTGCT	0.557																																																	3	Substitution - Missense(3)	kidney(3)											73.0	78.0	77.0					10																	75553698		2073	4198	6271	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2521T>G	10.37:g.75553698T>G	ENSP00000474748:p.Leu841Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	14.93|14.93|14.93	2.681862|2.681862|2.681862	0.47991|0.47991|0.47991	.|.|.	.|.|.	ENSG00000214655|ENSG00000214655|ENSG00000214655	ENST00000431225;ENST00000412198;ENST00000425051|ENST00000398706|ENST00000433366	.|T|.	.|0.47869|.	.|0.83|.	5.31|5.31|5.31	-0.929|-0.929|-0.929	0.10444|0.10444|0.10444	.|.|.	.|0.000000|.	.|0.46758|.	.|U|.	.|0.000271|.	T|T|T	0.44286|0.44286|0.44286	0.1286|0.1286|0.1286	L|L|L	0.32530|0.32530|0.32530	0.975|0.975|0.975	0.36951|0.36951|0.36951	D|D|D	0.892879|0.892879|0.892879	.|P;P;P;P|.	.|0.50943|.	.|0.94;0.94;0.94;0.94|.	.|P;P;P;P|.	.|0.47981|.	.|0.563;0.563;0.563;0.563|.	T|T|T	0.42258|0.42258|0.42258	-0.9462|-0.9462|-0.9462	5|10|5	.|0.27082|.	.|T|.	.|0.32|.	-3.2749|-3.2749|-3.2749	10.8447|10.8447|10.8447	0.46737|0.46737|0.46737	0.0:0.4492:0.0:0.5508|0.0:0.4492:0.0:0.5508|0.0:0.4492:0.0:0.5508	.|.|.	.|841;841;841;841|.	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	.|K0913_HUMAN;.;.;.|.	W|V|G	337;110;19|841|556	.|ENSP00000381693:L841V|.	.|ENSP00000381693:L841V|.	C|L|V	+|+|+	3|1|2	2|2|0	KIAA0913|KIAA0913|KIAA0913	75223704|75223704|75223704	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.974000|0.974000|0.974000	0.42286|0.42286|0.42286	0.880000|0.880000|0.880000	0.50808|0.50808|0.50808	1.931000|1.931000|1.931000	0.40134|0.40134|0.40134	-0.068000|-0.068000|-0.068000	0.12953|0.12953|0.12953	0.455000|0.455000|0.455000	0.32223|0.32223|0.32223	TGT|TTG|GTT		0.557	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1		NM_001242487	
KRT36	8689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39643651	39643651	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr17:39643651T>A	ENST00000328119.6	-	5	938	c.939A>T	c.(937-939)agA>agT	p.R313S	KRT36_ENST00000393986.2_Missense_Mutation_p.R263S	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	313	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)	p.R313S(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TGACCGTACGTCTCAGCTCGA	0.637																																																	1	Substitution - Missense(1)	kidney(1)											76.0	55.0	62.0					17																	39643651		2203	4300	6503	SO:0001583	missense	8689			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.939A>T	17.37:g.39643651T>A	ENSP00000329165:p.Arg313Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341095	0.81911	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.91843	-2.92;-2.92	5.95	4.88	0.63580	Filament (1);	0.114009	0.39544	N	0.001331	D	0.96018	0.8703	M	0.91459	3.21	0.35339	D	0.786353	D	0.67145	0.996	D	0.63113	0.911	D	0.98415	1.0574	10	0.87932	D	0	.	10.3989	0.44218	0.0:0.1353:0.0:0.8647	.	313	O76013	KRT36_HUMAN	S	263;313	ENSP00000377555:R263S;ENSP00000329165:R313S	ENSP00000329165:R313S	R	-	3	2	KRT36	36897177	0.996000	0.38824	1.000000	0.80357	0.924000	0.55760	0.313000	0.19415	1.079000	0.41038	0.533000	0.62120	AGA		0.637	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1		NM_003771	
LAMA4	3910	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	112575349	112575349	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr6:112575349C>G	ENST00000230538.7	-	2	401	c.4G>C	c.(4-6)Gct>Cct	p.A2P	RP11-506B6.6_ENST00000590293.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.A2P|LAMA4_ENST00000424408.2_Missense_Mutation_p.A2P|RP11-506B6.6_ENST00000585504.1_RNA|LAMA4_ENST00000368638.4_Missense_Mutation_p.A2P|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000588837.1_RNA|LAMA4_ENST00000431543.2_Missense_Mutation_p.A2P|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590804.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.A2P|RP11-506B6.6_ENST00000590673.1_RNA|LAMA4_ENST00000453937.2_Missense_Mutation_p.A2P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	2					blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.A2P(2)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAGCTCAAAGCCATTTCTCCG	0.642																																																	2	Substitution - Missense(2)	kidney(2)											23.0	20.0	21.0					6																	112575349		2176	4282	6458	SO:0001583	missense	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4G>C	6.37:g.112575349C>G	ENSP00000230538:p.Ala2Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871462	0.51695	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639;ENST00000519932;ENST00000431543;ENST00000243219;ENST00000521690;ENST00000368638;ENST00000453937;ENST00000455073	T;T;T;T;T;T;T	0.57107	2.4;2.38;2.38;2.38;1.46;0.6;0.42	4.42	3.55	0.40652	.	0.394839	0.19777	N	0.106311	T	0.40595	0.1123	N	0.19112	0.55	0.23101	N	0.998292	D;D;P;P	0.76494	0.999;0.999;0.567;0.693	D;D;B;B	0.69479	0.964;0.93;0.216;0.387	T	0.32402	-0.9908	10	0.66056	D	0.02	.	10.85	0.46765	0.0:0.9104:0.0:0.0896	.	2;2;2;2	Q16363-3;Q6LET9;Q16363;Q16363-2	.;.;LAMA4_HUMAN;.	P	2	ENSP00000230538:A2P;ENSP00000429488:A2P;ENSP00000374114:A2P;ENSP00000416470:A2P;ENSP00000430336:A2P;ENSP00000428583:A2P;ENSP00000412136:A2P	ENSP00000230538:A2P	A	-	1	0	LAMA4	112682042	1.000000	0.71417	0.973000	0.42090	0.079000	0.17450	2.133000	0.42093	0.982000	0.38575	0.460000	0.39030	GCT		0.642	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2		NM_001105206	
LPHN3	23284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	62812747	62812747	+	Silent	SNP	C	C	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr4:62812747C>T	ENST00000514591.1	+	15	2660	c.2331C>T	c.(2329-2331)gtC>gtT	p.V777V	LPHN3_ENST00000507625.1_Silent_p.V845V|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000509896.1_Silent_p.V845V|LPHN3_ENST00000506746.1_Silent_p.V845V|LPHN3_ENST00000512091.2_Silent_p.V777V|LPHN3_ENST00000507164.1_Silent_p.V845V|LPHN3_ENST00000514157.1_Silent_p.V777V|LPHN3_ENST00000508946.1_Silent_p.V777V|LPHN3_ENST00000508693.1_Silent_p.V845V|LPHN3_ENST00000545650.1_Silent_p.V777V|LPHN3_ENST00000506700.1_Silent_p.V777V|LPHN3_ENST00000506720.1_Silent_p.V845V|LPHN3_ENST00000504896.1_Silent_p.V777V|LPHN3_ENST00000511324.1_Silent_p.V845V|LPHN3_ENST00000514996.1_Silent_p.V777V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	764					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.V777V(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTGTTATTGTCAATTCCCCTG	0.383																																																	3	Substitution - coding silent(3)	kidney(3)											202.0	188.0	193.0					4																	62812747		1885	4108	5993	SO:0001819	synonymous_variant	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2331C>T	4.37:g.62812747C>T		Somatic		WXS	Illumina HiSeq	Phase_I	E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	7.893	0.732709	0.15507	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.51	2.64	0.31445	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8638	0.13598	0.2656:0.5326:0.1302:0.0716	.	.	.	.	X	235	.	.	Q	+	1	0	LPHN3	62495342	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	2.500000	0.45381	0.673000	0.31224	-0.259000	0.10710	CAA		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			
LRRC40	55631	broad.mit.edu;hgsc.bcm.edu	37	1	70671195	70671195	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr1:70671195T>C	ENST00000370952.3	-	1	108	c.29A>G	c.(28-30)cAg>cGg	p.Q10R	SRSF11_ENST00000454435.2_5'Flank|SRSF11_ENST00000370951.1_5'Flank|SRSF11_ENST00000405432.1_5'Flank|SRSF11_ENST00000370950.3_5'Flank	NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	10						membrane (GO:0016020)		p.Q10R(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GCGGAGATCCTGCCCCGCTAT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											50.0	47.0	48.0					1																	70671195		2203	4300	6503	SO:0001583	missense	55631				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.29A>G	1.37:g.70671195T>C	ENSP00000359990:p.Gln10Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	CCDS646.1	.	.	.	.	.	.	.	.	.	.	T	6.024	0.372769	0.11409	.	.	ENSG00000066557	ENST00000370952	T	0.32515	1.45	4.72	-2.37	0.06643	.	0.932273	0.09081	N	0.851370	T	0.01870	0.0059	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43718	-0.9374	10	0.20046	T	0.44	.	3.523	0.07750	0.2722:0.241:0.4005:0.0863	.	10	Q9H9A6	LRC40_HUMAN	R	10	ENSP00000359990:Q10R	ENSP00000359990:Q10R	Q	-	2	0	LRRC40	70443783	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	-0.415000	0.07106	-0.186000	0.10533	-2.409000	0.00222	CAG		0.612	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1		NM_017768	
MAP4K5	11183	hgsc.bcm.edu;ucsc.edu	37	14	50904252	50904252	+	Splice_Site	SNP	T	T	G	rs10150701	byFrequency	TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr14:50904252T>G	ENST00000013125.4	-	25	2142	c.1824A>C	c.(1822-1824)agA>agC	p.R608S		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	608	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R608S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					AAGCGAATTTTCTGAAAACGT	0.343																																																	1	Substitution - Missense(1)	kidney(1)											78.0	67.0	71.0					14																	50904252		1844	4108	5952	SO:0001630	splice_region_variant	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1824-1A>C	14.37:g.50904252T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37		.	.	.	.	.	.	.	.	.	.	T	16.23	3.063699	0.55432	.	.	ENSG00000012983	ENST00000013125	T	0.80653	-1.4	4.83	3.69	0.42338	Citron-like (3);	0.000000	0.85682	D	0.000000	D	0.87083	0.6089	M	0.86953	2.85	0.09310	P	0.99999864871	D;P	0.67145	0.996;0.896	D;B	0.63113	0.911;0.341	D	0.89386	0.3685	9	0.87932	D	0	.	4.5395	0.12050	0.0:0.2569:0.0:0.7431	.	608;608	B2R928;Q9Y4K4	.;M4K5_HUMAN	S	608	ENSP00000013125:R608S	ENSP00000013125:R608S	R	-	3	2	MAP4K5	49974002	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.032000	0.41127	1.811000	0.52892	0.377000	0.23210	AGA		0.343	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1		NM_006575	Missense_Mutation
MAPK7	5598	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	19284305	19284305	+	Silent	SNP	C	C	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr17:19284305C>G	ENST00000308406.5	+	4	1169	c.783C>G	c.(781-783)ctC>ctG	p.L261L	MAPK7_ENST00000299612.7_Silent_p.L122L|B9D1_ENST00000477478.2_5'Flank|MFAP4_ENST00000574313.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Silent_p.L261L|MAPK7_ENST00000395604.3_Silent_p.L261L	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	261	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)	p.L261L(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GGCGCCAGCTCTTCCCAGGCA	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											39.0	39.0	39.0					17																	19284305		2203	4300	6503	SO:0001819	synonymous_variant	5598			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.783C>G	17.37:g.19284305C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP	ENST00000308406.5	37	CCDS11206.1																																																																																				0.572	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1		NM_139033	
MICALCL	84953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	12315780	12315780	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr11:12315780T>A	ENST00000256186.2	+	3	1093	c.802T>A	c.(802-804)Tcc>Acc	p.S268T		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	268					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.S268T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCCACCCAAGTCCCCACTGCG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											37.0	40.0	39.0					11																	12315780		1938	4129	6067	SO:0001583	missense	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.802T>A	11.37:g.12315780T>A	ENSP00000256186:p.Ser268Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970070	0.53614	.	.	ENSG00000133808	ENST00000256186	T	0.21191	2.02	5.56	5.56	0.83823	.	0.000000	0.47455	D	0.000227	T	0.44787	0.1310	M	0.70275	2.135	0.34862	D	0.742752	D	0.89917	1.0	D	0.83275	0.996	T	0.60546	-0.7242	10	0.66056	D	0.02	.	12.0852	0.53693	0.0:0.0:0.0:1.0	.	268	Q6ZW33	MICLK_HUMAN	T	268	ENSP00000256186:S268T	ENSP00000256186:S268T	S	+	1	0	MICALCL	12272356	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	4.420000	0.59841	2.105000	0.64084	0.455000	0.32223	TCC		0.617	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1		NM_032867	
Unknown	0	broad.mit.edu	37	X	76139785	76139785	+	IGR	SNP	A	A	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chrX:76139785A>G								RNA5SP508 (264257 upstream) : MIR325 (86043 downstream)																							CTGATTTAACATTCTGCCTAT	0.318																																																	0													42.0	32.0	35.0					X																	76139785		1488	3394	4882	SO:0001628	intergenic_variant	494333																															X.37:g.76139785A>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.318									
MRGPRX4	117196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	18194921	18194921	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr11:18194921G>T	ENST00000314254.3	+	1	538	c.118G>T	c.(118-120)Gtc>Ttc	p.V40F	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V40F(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CATTTCCCTTGTCGGACTGAC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											166.0	149.0	155.0					11																	18194921		2199	4293	6492	SO:0001583	missense	117196			AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.118G>T	11.37:g.18194921G>T	ENSP00000314042:p.Val40Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	9.058	0.993767	0.19043	.	.	ENSG00000179817	ENST00000314254	T	0.09445	2.98	2.95	0.917	0.19380	.	1.941220	0.02516	N	0.092017	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	P	0.35628	0.513	B	0.34418	0.182	T	0.26538	-1.0100	10	0.54805	T	0.06	.	5.5461	0.17065	0.0:0.1962:0.4029:0.4009	.	40	Q96LA9	MRGX4_HUMAN	F	40	ENSP00000314042:V40F	ENSP00000314042:V40F	V	+	1	0	MRGPRX4	18151497	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.206000	0.09398	0.110000	0.17919	-0.287000	0.09952	GTC		0.552	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1		NM_054032	
MRPS15	64960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36926350	36926350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr1:36926350G>A	ENST00000373116.5	-	5	489	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	MRPS15_ENST00000488606.1_5'Flank	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	110					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Q110*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCATAAACTGTTCTTGCTTG	0.522																																																	1	Substitution - Nonsense(1)	kidney(1)											160.0	155.0	157.0					1																	36926350		2203	4300	6503	SO:0001587	stop_gained	64960			AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.328C>T	1.37:g.36926350G>A	ENSP00000362208:p.Gln110*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD82|Q9H2K1	Nonsense_Mutation	SNP	ENST00000373116.5	37	CCDS411.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439134	0.63067	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.27	2.32	0.28847	.	0.171406	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-3.0943	8.8367	0.35117	0.2544:0.0:0.7456:0.0	.	.	.	.	X	110	.	ENSP00000362208:Q110X	Q	-	1	0	MRPS15	36698937	0.733000	0.28132	0.215000	0.23724	0.189000	0.23516	1.331000	0.33793	0.288000	0.22398	-0.136000	0.14681	CAG		0.522	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2		NM_031280	
NACA	4666	broad.mit.edu;hgsc.bcm.edu	37	12	57110097	57110097	+	Silent	SNP	G	G	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr12:57110097G>A	ENST00000454682.1	-	3	5498	c.5217C>T	c.(5215-5217)ctC>ctT	p.L1739L	NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1739	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCTGAACAGGGAGTAGAGGGG	0.517			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													169.0	158.0	161.0					12																	57110097		1568	3582	5150	SO:0001819	synonymous_variant	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5217C>T	12.37:g.57110097G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000454682.1	37																																																																																					0.517	NACA-201	KNOWN	basic	protein_coding	protein_coding			NM_005594	
NEDD1	121441	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	97303613	97303613	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr12:97303613G>C	ENST00000266742.4	+	3	415	c.76G>C	c.(76-78)Gat>Cat	p.D26H	NEDD1_ENST00000557644.1_Missense_Mutation_p.D33H|NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000429527.2_Missense_Mutation_p.D26H|NEDD1_ENST00000457368.2_5'Flank	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	26					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)		p.D26H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GACATTGGTGGATAAATTCAA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											108.0	99.0	102.0					12																	97303613		2203	4300	6503	SO:0001583	missense	121441				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.76G>C	12.37:g.97303613G>C	ENSP00000266742:p.Asp26His	Somatic		WXS	Illumina HiSeq	Phase_I	B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953227	0.73902	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000554226;ENST00000557478;ENST00000557092;ENST00000557644	T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;5.09;1.65	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.094954	0.64402	D	0.000001	T	0.35913	0.0948	N	0.14661	0.345	0.80722	D	1	D;P	0.57571	0.98;0.855	P;P	0.58873	0.847;0.459	T	0.09058	-1.0692	10	0.25106	T	0.35	-0.0055	19.8344	0.96650	0.0:0.0:1.0:0.0	.	33;26	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	H	26;26;33;26;26;33	ENSP00000266742:D26H;ENSP00000404978:D26H;ENSP00000450881:D33H;ENSP00000451869:D26H;ENSP00000450757:D26H;ENSP00000451211:D33H	ENSP00000266742:D26H	D	+	1	0	NEDD1	95827744	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.712000	0.84684	2.696000	0.92011	0.561000	0.74099	GAT		0.368	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			
NPHS1	4868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36340202	36340202	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr19:36340202T>C	ENST00000378910.5	-	7	775	c.776A>G	c.(775-777)cAg>cGg	p.Q259R	NPHS1_ENST00000353632.6_Missense_Mutation_p.Q259R|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	259	Ig-like C2-type 3.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.Q259R(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCAAGCTCTGTCCTGCCCG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											27.0	26.0	27.0					19																	36340202		2203	4300	6503	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.776A>G	19.37:g.36340202T>C	ENSP00000368190:p.Gln259Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.682881	0.29872	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.86694	-2.16;-2.16	5.0	5.0	0.66597	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.475254	0.22959	N	0.053574	T	0.79616	0.4476	N	0.25380	0.74	0.22468	N	0.999078	B	0.17038	0.02	B	0.18871	0.023	T	0.70970	-0.4727	10	0.56958	D	0.05	-14.0107	11.0182	0.47703	0.0:0.0:0.0:1.0	.	259	O60500	NPHN_HUMAN	R	259	ENSP00000368190:Q259R;ENSP00000343634:Q259R	ENSP00000343634:Q259R	Q	-	2	0	NPHS1	41032042	0.425000	0.25498	0.998000	0.56505	0.497000	0.33675	2.564000	0.45931	2.106000	0.64143	0.482000	0.46254	CAG		0.652	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			
NXF2B	728343	broad.mit.edu	37	X	101615563	101615563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chrX:101615563C>A	ENST00000372750.1	-	27	2639	c.1840G>T	c.(1840-1842)Gag>Tag	p.E614*	NXF2B_ENST00000372752.1_3'UTR|NXF2B_ENST00000372749.1_Nonsense_Mutation_p.E614*|NXF2B_ENST00000457521.2_Nonsense_Mutation_p.E614*|NXF2B_ENST00000412230.2_Nonsense_Mutation_p.E614*			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	614	TAP-C. {ECO:0000255|PROSITE- ProRule:PRU00611}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E614*(1)		breast(1)|kidney(1)|lung(4)|ovary(1)	7						ATCTTGCCCTCGGTCTAGAGA	0.507																																																	1	Substitution - Nonsense(1)	kidney(1)											145.0	117.0	127.0					X																	101615563		1971	3284	5255	SO:0001587	stop_gained	728343				CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.1840G>T	X.37:g.101615563C>A	ENSP00000361836:p.Glu614*	Somatic		WXS	Illumina GAIIx	Phase_I	Q9BXU4|Q9NSS1|Q9NX66	Nonsense_Mutation	SNP	ENST00000372750.1	37	CCDS43979.1	.	.	.	.	.	.	.	.	.	.	.	19.38	3.815994	0.70912	.	.	ENSG00000185945	ENST00000457521;ENST00000372749;ENST00000372750;ENST00000412230	.	.	.	2.73	-1.57	0.08506	.	1.091340	0.07325	U	0.878273	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-2.4389	3.4023	0.07328	0.0:0.3382:0.2101:0.4517	.	.	.	.	X	614	.	ENSP00000361835:E614X	E	-	1	0	NXF2B	101502219	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.049000	0.14099	-0.554000	0.06150	-0.323000	0.08544	GAG		0.507	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058979.1			
TENM2	57451	hgsc.bcm.edu	37	5	167545365	167545366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr5:167545365_167545366insG	ENST00000518659.1	+	10	1921_1922	c.1882_1883insG	c.(1882-1884)tggfs	p.W628fs	TENM2_ENST00000519204.1_Frame_Shift_Ins_p.W507fs|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Frame_Shift_Ins_p.W461fs|TENM2_ENST00000545108.1_Frame_Shift_Ins_p.W628fs|TENM2_ENST00000520394.1_Frame_Shift_Ins_p.W396fs	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	628	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CTACAGCGGCTGGAAAGGTGCA	0.574																																																	0																																										SO:0001589	frameshift_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1884dupG	5.37:g.167545367_167545367dupG	ENSP00000429430:p.Trp628fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9ULU2	Frame_Shift_Ins	INS	ENST00000518659.1	37																																																																																					0.574	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679	
PAPPA2	60676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	176738772	176738772	+	Silent	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr1:176738772G>C	ENST00000367662.3	+	16	5517	c.4353G>C	c.(4351-4353)ggG>ggC	p.G1451G		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1451	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G1451G(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTTCTTCTGGGCACTGGGACC	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											124.0	115.0	118.0					1																	176738772		1904	4122	6026	SO:0001819	synonymous_variant	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4353G>C	1.37:g.176738772G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	CCDS41438.1																																																																																				0.473	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			
JADE2	23338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	133914214	133914214	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr5:133914214G>C	ENST00000282605.4	+	12	1798	c.1712G>C	c.(1711-1713)gGc>gCc	p.G571A	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Missense_Mutation_p.G528A|PHF15_ENST00000395003.1_Missense_Mutation_p.G527A														p.G527A(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCATCGATGGCACCTTCTTC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											125.0	125.0	125.0					5																	133914214		2203	4300	6503	SO:0001583	missense	23338																														ENST00000282605.4:c.1712G>C	5.37:g.133914214G>C	ENSP00000282605:p.Gly571Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000282605.4	37		.	.	.	.	.	.	.	.	.	.	g	12.94	2.087688	0.36855	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.47177	0.92;0.85;0.85	5.17	5.17	0.71159	.	0.255377	0.31461	N	0.007618	T	0.55097	0.1899	L	0.38175	1.15	0.40698	D	0.982458	P;P;D	0.62365	0.58;0.76;0.991	B;B;P	0.55923	0.184;0.269;0.787	T	0.57917	-0.7728	10	0.52906	T	0.07	.	18.677	0.91532	0.0:0.0:1.0:0.0	.	527;528;587	Q9NQC1;D3DQA3;B3KPL2	JADE2_HUMAN;.;.	A	571;587;571;528;528;527	ENSP00000282605:G571A;ENSP00000354425:G528A;ENSP00000378451:G527A	ENSP00000282605:G571A	G	+	2	0	PHF15	133942113	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.649000	0.67936	2.424000	0.82194	0.306000	0.20318	GGC		0.602	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			
PIK3CA	5290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	178921334	178921334	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr3:178921334T>A	ENST00000263967.3	+	5	973	c.816T>A	c.(814-816)taT>taA	p.Y272*		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	272	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Y272*(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCTTACAGTATATAAGAAGCT	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	2	Substitution - Nonsense(2)	kidney(2)											44.0	43.0	43.0					3																	178921334		1822	4085	5907	SO:0001587	stop_gained	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.816T>A	3.37:g.178921334T>A	ENSP00000263967:p.Tyr272*	Somatic		WXS	Illumina HiSeq	Phase_I	Q14CW1|Q99762	Nonsense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	33	5.253850	0.95336	.	.	ENSG00000121879	ENST00000263967	.	.	.	5.25	-2.91	0.05631	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.21	13.4533	0.61184	0.0:0.4876:0.0:0.5124	.	.	.	.	X	272	.	ENSP00000263967:Y272X	Y	+	3	2	PIK3CA	180404028	0.224000	0.23674	0.982000	0.44146	0.830000	0.47004	-0.349000	0.07731	-0.408000	0.07565	-0.605000	0.04089	TAT		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			
PPFIBP1	8496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	27835400	27835400	+	Silent	SNP	T	T	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr12:27835400T>C	ENST00000318304.8	+	22	2428	c.2145T>C	c.(2143-2145)aaT>aaC	p.N715N	PPFIBP1_ENST00000537927.1_Silent_p.N562N|PPFIBP1_ENST00000542629.1_Silent_p.N684N|PPFIBP1_ENST00000228425.6_Silent_p.N709N	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	715					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)		p.N715N(1)|p.N709N(1)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AAGAAACCAATCATGGGAAGC	0.353																																																	2	Substitution - coding silent(2)	kidney(2)											92.0	104.0	100.0					12																	27835400		2203	4300	6503	SO:0001819	synonymous_variant	8496			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2145T>C	12.37:g.27835400T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	37	CCDS55812.1																																																																																				0.353	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1		NM_003622	
RERE	473	broad.mit.edu	37	1	8420358	8420358	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr1:8420358delC	ENST00000337907.3	-	19	3843	c.3209delG	c.(3208-3210)tgcfs	p.C1070fs	RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Frame_Shift_Del_p.C516fs|RERE_ENST00000377464.1_Frame_Shift_Del_p.C802fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.C1070fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1070	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CGCACCAGAGCAGGGTGGCTG	0.701																																																	0													3.0	4.0	4.0					1																	8420358		1874	3821	5695	SO:0001589	frameshift_variant	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3209delG	1.37:g.8420358delC	ENSP00000338629:p.Cys1070fs	Somatic		WXS	Illumina GAIIx	Phase_I	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Del	DEL	ENST00000337907.3	37	CCDS95.1																																																																																				0.701	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			
RP1	6101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	55533660	55533660	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr8:55533660A>C	ENST00000220676.1	+	2	282	c.134A>C	c.(133-135)gAc>gCc	p.D45A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	45	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.D45A(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGAGCGGAGACCCCCAATTC	0.537																																					Colon(91;1014 1389 7634 14542 40420)												1	Substitution - Missense(1)	kidney(1)											105.0	94.0	98.0					8																	55533660		2203	4300	6503	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.134A>C	8.37:g.55533660A>C	ENSP00000220676:p.Asp45Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.549862	0.86127	.	.	ENSG00000104237	ENST00000220676	D	0.90133	-2.62	5.34	5.34	0.76211	Doublecortin domain (4);	0.000000	0.64402	D	0.000007	D	0.96617	0.8896	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97758	1.0219	10	0.87932	D	0	-15.693	15.3208	0.74120	1.0:0.0:0.0:0.0	.	45	P56715	RP1_HUMAN	A	45	ENSP00000220676:D45A	ENSP00000220676:D45A	D	+	2	0	RP1	55696213	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.265000	0.95647	2.021000	0.59480	0.528000	0.53228	GAC		0.537	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2		NM_006269	
SLC22A5	6584	hgsc.bcm.edu	37	5	131705726	131705728	+	In_Frame_Del	DEL	TCT	TCT	-	rs377767444		TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr5:131705726_131705728delTCT	ENST00000245407.3	+	1	283_285	c.62_64delTCT	c.(61-66)atcttc>atc	p.F23del	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000457998.2_RNA|SLC22A5_ENST00000435065.2_In_Frame_Del_p.F23del	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	23					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CAGCGCCTCATCTTCTTCCTGCT	0.695											OREG0003451	type=REGULATORY REGION|Gene=BC043424|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0																																										SO:0001651	inframe_deletion	6584			AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.62_64delTCT	5.37:g.131705729_131705731delTCT	ENSP00000245407:p.Phe23del	Somatic	1589	WXS	Illumina HiSeq	Phase_I	A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	In_Frame_Del	DEL	ENST00000245407.3	37	CCDS4154.1																																																																																				0.695	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1		NM_003060	
SMC3	9126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	112341762	112341762	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr10:112341762T>C	ENST00000361804.4	+	9	755	c.629T>C	c.(628-630)cTa>cCa	p.L210P	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	210					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.L210P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGGAAGAACTAGCTCAGTAT	0.378																																																	2	Substitution - Missense(2)	kidney(2)											120.0	126.0	124.0					10																	112341762		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.629T>C	10.37:g.112341762T>C	ENSP00000354720:p.Leu210Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609972	0.87258	.	.	ENSG00000108055	ENST00000361804	D	0.92199	-2.99	5.51	5.51	0.81932	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.97062	0.9040	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98038	1.0380	10	0.72032	D	0.01	.	15.6114	0.76721	0.0:0.0:0.0:1.0	.	210	Q9UQE7	SMC3_HUMAN	P	210	ENSP00000354720:L210P	ENSP00000354720:L210P	L	+	2	0	SMC3	112331752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.639000	0.83342	2.086000	0.62901	0.482000	0.46254	CTA		0.378	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1		NM_005445	
THEM5	284486	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151820729	151820729	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr1:151820729C>G	ENST00000368817.5	-	4	635	c.504G>C	c.(502-504)gaG>gaC	p.E168D	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	168					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.E168D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TAGAAAAGGTCTCGTCCATCA	0.592																																																	1	Substitution - Missense(1)	kidney(1)											74.0	75.0	75.0					1																	151820729		2203	4300	6503	SO:0001583	missense	284486			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.504G>C	1.37:g.151820729C>G	ENSP00000357807:p.Glu168Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T1C3	Missense_Mutation	SNP	ENST00000368817.5	37	CCDS1005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.21|16.21	3.057651|3.057651	0.55325|0.55325	.|.	.|.	ENSG00000196407|ENSG00000196407	ENST00000368817|ENST00000453881	T|.	0.26518|.	1.73|.	5.42|5.42	3.55|3.55	0.40652|0.40652	Thioesterase superfamily (1);|.	0.115539|.	0.64402|.	D|.	0.000014|.	T|T	0.42899|0.42899	0.1223|0.1223	M|M	0.80746|0.80746	2.51|2.51	0.29372|0.29372	N|N	0.863905|0.863905	D|.	0.69078|.	0.997|.	P|.	0.59948|.	0.866|.	T|T	0.41088|0.41088	-0.9528|-0.9528	10|5	0.42905|.	T|.	0.14|.	-10.874|-10.874	7.2718|7.2718	0.26260|0.26260	0.0:0.807:0.0:0.193|0.0:0.807:0.0:0.193	.|.	168|.	Q8N1Q8|.	THEM5_HUMAN|.	D|T	168|115	ENSP00000357807:E168D|.	ENSP00000357807:E168D|.	E|R	-|-	3|2	2|0	THEM5|THEM5	150087353|150087353	1.000000|1.000000	0.71417|0.71417	0.924000|0.924000	0.36721|0.36721	0.961000|0.961000	0.63080|0.63080	1.595000|1.595000	0.36708|0.36708	1.303000|1.303000	0.44873|0.44873	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.592	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2		NM_182578	
TMEM131	23505	broad.mit.edu	37	2	98375417	98375417	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr2:98375417G>T	ENST00000186436.5	-	40	5534	c.5306C>A	c.(5305-5307)cCa>cAa	p.P1769Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1769	Ser-rich.					integral component of membrane (GO:0016021)		p.P1769Q(1)|p.P1656Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ATCTGTCGCTGGCGACTCCCA	0.587																																																	2	Substitution - Missense(2)	kidney(2)											51.0	59.0	56.0					2																	98375417		2002	4184	6186	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5306C>A	2.37:g.98375417G>T	ENSP00000186436:p.Pro1769Gln	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000186436.5	37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116680	0.37339	.	.	ENSG00000075568	ENST00000186436	T	0.37058	1.22	5.37	5.37	0.77165	.	0.181808	0.50627	D	0.000114	T	0.42017	0.1184	N	0.24115	0.695	0.80722	D	1	P;D	0.57571	0.745;0.98	B;P	0.55965	0.282;0.788	T	0.33777	-0.9855	10	0.59425	D	0.04	-16.0128	17.6547	0.88174	0.0:0.0:1.0:0.0	.	1769;149	Q92545;Q0P631	TM131_HUMAN;.	Q	1769	ENSP00000186436:P1769Q	ENSP00000186436:P1769Q	P	-	2	0	TMEM131	97741849	1.000000	0.71417	0.581000	0.28614	0.113000	0.19764	7.740000	0.84986	2.655000	0.90218	0.643000	0.83706	CCA		0.587	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2		XM_371542	
TMEM132B	114795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	126135244	126135244	+	Silent	SNP	C	C	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr12:126135244C>T	ENST00000299308.3	+	7	1652	c.1644C>T	c.(1642-1644)agC>agT	p.S548S	TMEM132B_ENST00000535886.1_Silent_p.S60S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	548						integral component of membrane (GO:0016021)		p.S548S(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCGGGAAAGCGATGACGAGG	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											69.0	77.0	75.0					12																	126135244		2168	4288	6456	SO:0001819	synonymous_variant	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1644C>T	12.37:g.126135244C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	CCDS41859.1																																																																																				0.537	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1		NM_052907	
TRIM10	10107	hgsc.bcm.edu	37	6	30126177	30126177	+	Splice_Site	SNP	G	G	T	rs61735038	byFrequency	TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr6:30126177G>T	ENST00000449742.2	-	3	830	c.755C>A	c.(754-756)aCg>aAg	p.T252K	TRIM10_ENST00000376704.3_Splice_Site_p.T252K	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	252					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.T252K(1)		ovary(1)	1						AGGCCTCACCGTCAGGAGCTC	0.527																																																	1	Substitution - Missense(1)	kidney(1)											144.0	162.0	155.0					6																	30126177		1511	2708	4219	SO:0001630	splice_region_variant	10107			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.756+1C>A	6.37:g.30126177G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	G	3.028	-0.200205	0.06219	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.04317	3.65;3.65	5.77	1.6	0.23607	.	0.229124	0.31199	N	0.008079	T	0.00906	0.0030	N	0.11698	0.16	0.34802	D	0.736781	B;B	0.17465	0.013;0.022	B;B	0.22601	0.01;0.04	T	0.46331	-0.9199	10	0.48119	T	0.1	.	3.7406	0.08528	0.2779:0.0:0.5158:0.2063	.	252;252	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	K	252	ENSP00000397073:T252K;ENSP00000365894:T252K	ENSP00000365894:T252K	T	-	2	0	TRIM10	30234156	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	0.786000	0.26844	0.371000	0.24564	0.643000	0.83706	ACG		0.527	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			Missense_Mutation
TRIM71	131405	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	32932071	32932071	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr3:32932071G>C	ENST00000383763.5	+	4	1438	c.1375G>C	c.(1375-1377)Gtc>Ctc	p.V459L		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	459					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V459L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGACGACCGAGTCATGTTCAC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											71.0	79.0	76.0					3																	32932071		2029	4176	6205	SO:0001583	missense	131405				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1375G>C	3.37:g.32932071G>C	ENSP00000373272:p.Val459Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000383763.5	37	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	5.546	0.285590	0.10513	.	.	ENSG00000206557	ENST00000383763	D	0.81821	-1.54	5.65	2.87	0.33458	.	0.327428	0.33496	N	0.004860	T	0.57227	0.2039	N	0.12182	0.205	0.30153	N	0.80292	B	0.14438	0.01	B	0.15484	0.013	T	0.48456	-0.9034	10	0.02654	T	1	-32.6486	8.0525	0.30585	0.3875:0.0:0.6125:0.0	.	459	Q2Q1W2	LIN41_HUMAN	L	459	ENSP00000373272:V459L	ENSP00000373272:V459L	V	+	1	0	TRIM71	32907075	0.984000	0.35163	0.966000	0.40874	0.998000	0.95712	2.089000	0.41672	0.327000	0.23409	0.650000	0.86243	GTC		0.612	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3		NM_001039111	
CEP41	95681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	130044447	130044447	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr7:130044447T>C	ENST00000223208.5	-	6	650	c.380A>G	c.(379-381)aAc>aGc	p.N127S	CEP41_ENST00000343969.5_Missense_Mutation_p.N127S|CEP41_ENST00000541543.1_Missense_Mutation_p.N111S	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	127					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)		p.N127S(1)									TCCTGCGTTGTTTATGAACTG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											98.0	94.0	95.0					7																	130044447		2203	4300	6503	SO:0001583	missense	0			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.380A>G	7.37:g.130044447T>C	ENSP00000223208:p.Asn127Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	T	7.997	0.754668	0.15778	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000492389;ENST00000472739;ENST00000477003;ENST00000475282	D;D;D;D;D;D;D	0.88741	-2.42;-2.08;-2.4;-2.06;-2.06;-2.07;-1.67	5.35	1.59	0.23543	Rhodanese-like (1);	0.335280	0.39475	N	0.001356	T	0.78672	0.4320	L	0.31294	0.92	0.31955	N	0.609164	B;B;B	0.25904	0.137;0.016;0.001	B;B;B	0.28011	0.085;0.006;0.001	T	0.69068	-0.5243	10	0.20046	T	0.44	-16.041	5.9239	0.19099	0.0:0.1607:0.1431:0.6962	.	111;127;127	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	S	127;111;127;92;92;124;92	ENSP00000223208:N127S;ENSP00000445888:N111S;ENSP00000342738:N127S;ENSP00000419192:N92S;ENSP00000417593:N92S;ENSP00000420670:N124S;ENSP00000418363:N92S	ENSP00000223208:N127S	N	-	2	0	TSGA14	129831683	0.999000	0.42202	0.691000	0.30163	0.335000	0.28730	1.568000	0.36418	0.406000	0.25560	0.460000	0.39030	AAC		0.493	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2		NM_018718	
TYR	7299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	88911150	88911151	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr11:88911150_88911151insA	ENST00000263321.5	+	1	531_532	c.29_30insA	c.(28-33)ctgtggfs	p.W11fs	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	11					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TACTGCCTGCTGTGGAGTTTCC	0.525																																																	0																																										SO:0001589	frameshift_variant	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	Exception_encountered	11.37:g.88911150_88911151insA	ENSP00000263321:p.Trp11fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Frame_Shift_Ins	INS	ENST00000263321.5	37	CCDS8284.1																																																																																				0.525	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2		NM_000372	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191536	10191536	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr3:10191536A>T	ENST00000256474.2	+	3	1369	c.529A>T	c.(529-531)Aga>Tga	p.R177*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.R136*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	177			R -> RLRVKPE (in VHLD; type I).		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.R177*(4)|p.Y175fs*1(1)|p.R176fs*24(1)|p.R177fs*>38(1)|p.R177fs*25(1)|p.Y175_L178>*(1)|p.R176fs*36(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)		GAATTACAGGAGACTGGACAT	0.527		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"""	10	Substitution - Nonsense(4)|Deletion - Frameshift(4)|Complex - deletion inframe(1)|Insertion - Frameshift(1)	kidney(10)	GRCh37	CM961438	VHL	M							91.0	82.0	85.0					3																	10191536		2203	4300	6503	SO:0001587	stop_gained	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.529A>T	3.37:g.10191536A>T	ENSP00000256474:p.Arg177*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261639	0.80358	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.97	0.981	0.19756	.	0.572417	0.19120	N	0.122201	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8693	11.3131	0.49375	0.5504:0.4496:0.0:0.0	.	.	.	.	X	177;136;95	.	ENSP00000256474:R177X	R	+	1	2	VHL	10166536	0.996000	0.38824	0.315000	0.25238	0.956000	0.61745	3.025000	0.49681	0.077000	0.16863	0.533000	0.62120	AGA		0.527	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
UBP1	7342	broad.mit.edu;hgsc.bcm.edu	37	3	33481335	33481335	+	Silent	SNP	G	G	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr3:33481335G>T	ENST00000283629.3	-	1	535	c.6C>A	c.(4-6)gcC>gcA	p.A2A	UBP1_ENST00000447368.2_Silent_p.A2A|UBP1_ENST00000283628.5_Silent_p.A2A	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	2					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A2A(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGAGCACCCAGGCCATCTTCC	0.726																																																	1	Substitution - coding silent(1)	kidney(1)											42.0	44.0	43.0					3																	33481335		2202	4299	6501	SO:0001819	synonymous_variant	7342			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.6C>A	3.37:g.33481335G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Silent	SNP	ENST00000283629.3	37	CCDS2659.1																																																																																				0.726	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2		NM_014517	
WDR72	256764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	53957926	53957926	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr15:53957926A>T	ENST00000396328.1	-	14	2044	c.1805T>A	c.(1804-1806)aTt>aAt	p.I602N	WDR72_ENST00000360509.5_Missense_Mutation_p.I602N|WDR72_ENST00000557913.1_Missense_Mutation_p.I599N|WDR72_ENST00000559418.1_Missense_Mutation_p.I612N	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	602								p.I602N(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATTAAGAATAATTCGTGCTCT	0.388																																																	1	Substitution - Missense(1)	kidney(1)											135.0	121.0	126.0					15																	53957926		2194	4293	6487	SO:0001583	missense	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1805T>A	15.37:g.53957926A>T	ENSP00000379619:p.Ile602Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038859	0.55003	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.34859	1.34;1.34	5.57	2.07	0.26955	WD40 repeat-like-containing domain (1);	0.852017	0.10560	N	0.660445	T	0.25121	0.0610	L	0.27053	0.805	0.24843	N	0.992456	P	0.41748	0.761	B	0.41723	0.365	T	0.10800	-1.0614	10	0.26408	T	0.33	.	6.8271	0.23889	0.57:0.0:0.43:0.0	.	602	Q3MJ13	WDR72_HUMAN	N	602	ENSP00000379619:I602N;ENSP00000353699:I602N	ENSP00000353699:I602N	I	-	2	0	WDR72	51745218	0.793000	0.28825	0.744000	0.31058	0.993000	0.82548	1.602000	0.36783	0.418000	0.25898	0.460000	0.39030	ATT		0.388	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2		NM_182758	
YLPM1	56252	broad.mit.edu;ucsc.edu	37	14	75230551	75230551	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr14:75230551delA	ENST00000552421.1	+	1	483	c.359delA	c.(358-360)cagfs	p.Q122fs	YLPM1_ENST00000238571.3_Frame_Shift_Del_p.Q122fs|YLPM1_ENST00000325680.7_Frame_Shift_Del_p.Q122fs			P49750	YLPM1_HUMAN	YLP motif containing 1	122	Pro-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TATCAGAAGCAGCAGCAGTAC	0.682																																																	0													67.0	76.0	73.0					14																	75230551		1942	4131	6073	SO:0001589	frameshift_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.359delA	14.37:g.75230551delA	ENSP00000447921:p.Gln122fs	Somatic		WXS	Illumina GAIIx	Phase_I	P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000552421.1	37																																																																																					0.682	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1		NM_019589	
ZBTB5	9925	broad.mit.edu;ucsc.edu	37	9	37441467	37441467	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr9:37441467A>C	ENST00000307750.4	-	2	1270	c.1082T>G	c.(1081-1083)gTt>gGt	p.V361G		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	361					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.V361G(1)		NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACTGACCACAACTCCTTCCAC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											86.0	77.0	80.0					9																	37441467		2203	4300	6503	SO:0001583	missense	9925			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1082T>G	9.37:g.37441467A>C	ENSP00000307604:p.Val361Gly	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000307750.4	37	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	A	2.599	-0.293451	0.05568	.	.	ENSG00000168795	ENST00000307750	T	0.08370	3.1	5.49	4.35	0.52113	.	0.270556	0.34133	N	0.004221	T	0.03827	0.0108	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48364	-0.9042	10	0.21014	T	0.42	.	11.8928	0.52638	0.7912:0.2088:0.0:0.0	.	361	O15062	ZBTB5_HUMAN	G	361	ENSP00000307604:V361G	ENSP00000307604:V361G	V	-	2	0	ZBTB5	37431467	0.995000	0.38212	0.997000	0.53966	0.997000	0.91878	2.891000	0.48617	2.311000	0.77944	0.533000	0.62120	GTT		0.517	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1		NM_014872	
ZCCHC8	55596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	122962402	122962402	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr12:122962402A>G	ENST00000336229.4	-	13	1461	c.1331T>C	c.(1330-1332)aTg>aCg	p.M444T	ZCCHC8_ENST00000538116.1_Missense_Mutation_p.M55T|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.M206T|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.M206T	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	444					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M444T(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		ATCGAGCTCCATGTCGGCGGG	0.468																																																	1	Substitution - Missense(1)	kidney(1)											94.0	93.0	93.0					12																	122962402		1861	4098	5959	SO:0001583	missense	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1331T>C	12.37:g.122962402A>G	ENSP00000337313:p.Met444Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	A	14.52	2.560576	0.45590	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892;ENST00000544054	T;T;T;T	0.56776	0.46;0.46;0.44;0.51	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.70771	0.3262	M	0.75264	2.295	0.80722	D	1	D	0.60160	0.987	D	0.66196	0.942	T	0.70923	-0.4740	10	0.39692	T	0.17	-23.8909	15.8243	0.78686	1.0:0.0:0.0:0.0	.	444	Q6NZY4	ZCHC8_HUMAN	T	206;206;444;55;55;206	ENSP00000441423:M206T;ENSP00000438993:M206T;ENSP00000337313:M444T;ENSP00000440028:M55T	ENSP00000337313:M444T	M	-	2	0	ZCCHC8	121528355	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	5.834000	0.69361	2.207000	0.71202	0.528000	0.53228	ATG		0.468	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_017612	
ZDBF2	57683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	207174466	207174466	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr2:207174466A>T	ENST00000374423.3	+	5	5600	c.5214A>T	c.(5212-5214)gaA>gaT	p.E1738D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1738							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E1738D(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAGATCTAGAAGTGAGCTGTG	0.443																																																	2	Substitution - Missense(2)	kidney(2)											73.0	72.0	73.0					2																	207174466		1862	4099	5961	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5214A>T	2.37:g.207174466A>T	ENSP00000363545:p.Glu1738Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.365750	0.24684	.	.	ENSG00000204186	ENST00000374423	T	0.46819	0.86	3.96	2.76	0.32466	.	.	.	.	.	T	0.24547	0.0595	N	0.08118	0	0.09310	N	1	P	0.46987	0.888	B	0.41374	0.355	T	0.03483	-1.1032	9	0.26408	T	0.33	.	6.375	0.21503	0.8853:0.0:0.1147:0.0	.	1738	Q9HCK1	ZDBF2_HUMAN	D	1738	ENSP00000363545:E1738D	ENSP00000363545:E1738D	E	+	3	2	ZDBF2	206882711	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.254000	0.18314	0.835000	0.34877	0.528000	0.53228	GAA		0.443	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1		NM_020923	
ZFAT	57623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	135524782	135524782	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr8:135524782T>G	ENST00000377838.3	-	14	3471	c.3297A>C	c.(3295-3297)gaA>gaC	p.E1099D	ZFAT_ENST00000429442.2_Missense_Mutation_p.E1087D|ZFAT_ENST00000520727.1_Missense_Mutation_p.E1087D|ZFAT_ENST00000520214.1_Missense_Mutation_p.E1087D|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Missense_Mutation_p.E1037D|ZFAT_ENST00000517307.1_5'Flank	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1099					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E1099D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTGAACGTCTTCTTCGGCCT	0.527																																																	1	Substitution - Missense(1)	kidney(1)											160.0	169.0	166.0					8																	135524782		1991	4161	6152	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3297A>C	8.37:g.135524782T>G	ENSP00000367069:p.Glu1099Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.452881	0.26161	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T	0.11385	2.84;2.78;2.84;2.84;2.86	4.23	-1.32	0.09201	.	0.443117	0.24544	N	0.037604	T	0.06735	0.0172	N	0.24115	0.695	0.33781	D	0.62421	P;P;P	0.45957	0.665;0.817;0.869	B;B;B	0.41271	0.169;0.3;0.352	T	0.32455	-0.9906	10	0.45353	T	0.12	-29.0559	9.5643	0.39389	0.0:0.2473:0.0:0.7527	.	218;1037;1099	B7Z741;E9PER3;Q9P243	.;.;ZFAT_HUMAN	D	1087;1087;1099;1087;986;1037	ENSP00000427831:E1087D;ENSP00000394501:E1087D;ENSP00000367069:E1099D;ENSP00000428483:E1087D;ENSP00000429091:E1037D	ENSP00000326997:E986D	E	-	3	2	ZFAT	135593964	0.996000	0.38824	0.740000	0.30986	0.192000	0.23643	0.152000	0.16302	-0.135000	0.11495	0.460000	0.39030	GAA		0.527	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1		NM_001029939	
ZFP36L2	678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	43452470	43452470	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr2:43452470A>G	ENST00000282388.3	-	2	766	c.473T>C	c.(472-474)cTg>cCg	p.L158P	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	158					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L158P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGGCCGGCACAGCTCGGTCTT	0.657																																																	1	Substitution - Missense(1)	kidney(1)											37.0	37.0	37.0					2																	43452470		2203	4300	6503	SO:0001583	missense	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.473T>C	2.37:g.43452470A>G	ENSP00000282388:p.Leu158Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309824	0.81247	.	.	ENSG00000152518	ENST00000282388	T	0.54279	0.58	4.76	4.76	0.60689	Zinc finger, CCCH-type (3);	0.130623	0.40222	N	0.001150	T	0.77205	0.4096	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82880	-0.0238	10	0.87932	D	0	-20.7207	13.3301	0.60480	1.0:0.0:0.0:0.0	.	158	P47974	TISD_HUMAN	P	158	ENSP00000282388:L158P	ENSP00000282388:L158P	L	-	2	0	ZFP36L2	43305974	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.715000	0.91416	1.789000	0.52484	0.454000	0.30748	CTG		0.657	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2		NM_006887	
ZNF185	7739	broad.mit.edu;hgsc.bcm.edu	37	X	152128271	152128271	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chrX:152128271G>C	ENST00000370268.4	+	17	1472	c.1435G>C	c.(1435-1437)Gtg>Ctg	p.V479L	ZNF185_ENST00000539731.1_Missense_Mutation_p.V482L|ZNF185_ENST00000454925.1_Missense_Mutation_p.V117L|ZNF185_ENST00000318504.7_Missense_Mutation_p.V420L|ZNF185_ENST00000449285.2_Missense_Mutation_p.V480L|ZNF185_ENST00000370270.2_Missense_Mutation_p.V511L|ZNF185_ENST00000324823.6_Missense_Mutation_p.V247L|ZNF185_ENST00000318529.8_Missense_Mutation_p.V258L|ZNF185_ENST00000535861.1_Missense_Mutation_p.V511L			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	479						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.V242L(1)|p.V511L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAGGATGTGGCCACCAA	0.567																																																	2	Substitution - Missense(2)	kidney(2)											54.0	54.0	54.0					X																	152128271		1997	4137	6134	SO:0001583	missense	7739			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1435G>C	X.37:g.152128271G>C	ENSP00000359291:p.Val479Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	CCDS48184.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	9.720|9.720|9.720	1.159532|1.159532|1.159532	0.21454|0.21454|0.21454	.|.|.	.|.|.	ENSG00000147394|ENSG00000147394|ENSG00000147394	ENST00000426821|ENST00000454925|ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000370270;ENST00000436731	.|.|T;T;T;T;T	.|.|0.45276	.|.|0.91;0.9;0.91;0.91;0.91	3.58|3.58|3.58	0.779|0.779|0.779	0.18550|0.18550|0.18550	.|.|.	.|.|0.957996	.|.|0.08563	.|.|N	.|.|0.927318	T|T|T	0.34600|0.34600|0.34600	0.0903|0.0903|0.0903	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|.|B;B;B;B;B;B;B;B;B	.|.|0.30281	.|.|0.136;0.11;0.046;0.186;0.226;0.136;0.264;0.275;0.079	.|.|B;B;B;B;B;B;B;B;B	.|.|0.38264	.|.|0.044;0.029;0.028;0.063;0.044;0.04;0.269;0.067;0.06	T|T|T	0.41680|0.41680|0.41680	-0.9495|-0.9495|-0.9495	5|5|10	.|.|0.45353	.|.|T	.|.|0.12	-3.5208|-3.5208|-3.5208	5.7841|5.7841|5.7841	0.18322|0.18322|0.18322	0.3808:0.0:0.6192:0.0|0.3808:0.0:0.6192:0.0|0.3808:0.0:0.6192:0.0	.|.|.	.|.|480;420;450;482;511;479;117;258;242	.|.|O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2	.|.|.;.;.;.;.;ZN185_HUMAN;.;.;.	S|I|L	264|119|511;482;480;420;314;247;345;479;258;242;184	.|.|ENSP00000440847:V511L;ENSP00000444367:V482L;ENSP00000395228:V480L;ENSP00000312782:V420L;ENSP00000359291:V479L	.|.|ENSP00000312782:V420L	C|M|V	+|+|+	2|3|1	0|0|0	ZNF185|ZNF185|ZNF185	151878927|151878927|151878927	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.008000|0.008000|0.008000	0.06430|0.06430|0.06430	0.010000|0.010000|0.010000	0.13242|0.13242|0.13242	0.032000|0.032000|0.032000	0.15435|0.15435|0.15435	-1.122000|-1.122000|-1.122000	0.02009|0.02009|0.02009	TGT|ATG|GTG		0.567	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1		NM_007150	
ZNF592	9640	hgsc.bcm.edu;ucsc.edu	37	15	85326473	85326477	+	Frame_Shift_Del	DEL	TCCGG	TCCGG	-	rs372238385		TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	TCCGG	TCCGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr15:85326473_85326477delTCCGG	ENST00000560079.2	+	4	855_859	c.567_571delTCCGG	c.(565-573)tttccggttfs	p.PV190fs	ZNF592_ENST00000299927.3_Frame_Shift_Del_p.PV190fs	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	190					cell death (GO:0008219)|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.V191L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGCTAAGTTTCCGGTTCCAGAGCT	0.541																																																	2	Substitution - Missense(2)	lung(2)																																								SO:0001589	frameshift_variant	9640			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.567_571delTCCGG	15.37:g.85326473_85326477delTCCGG	ENSP00000452877:p.Pro190fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M1T2|Q504Y9	Frame_Shift_Del	DEL	ENST00000560079.2	37	CCDS32317.1																																																																																				0.541	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2		NM_014630	
ZNF638	27332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	71658543	71658543	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr2:71658543T>C	ENST00000409544.1	+	26	6367	c.5737T>C	c.(5737-5739)Tct>Cct	p.S1913P	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.S853P|ZNF638_ENST00000264447.4_Missense_Mutation_p.S1913P	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1913					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S1913P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATCAGTGGCGTCTGATGTCCC	0.428																																																	1	Substitution - Missense(1)	kidney(1)											49.0	49.0	49.0					2																	71658543		2203	4300	6503	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5737T>C	2.37:g.71658543T>C	ENSP00000386433:p.Ser1913Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	9.882	1.201973	0.22121	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.32023	1.47;1.47;1.96	4.87	-6.44	0.01920	.	1.795260	0.02881	N	0.132792	T	0.11965	0.0291	N	0.04203	-0.255	0.24777	N	0.992831	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.25984	-1.0116	10	0.09843	T	0.71	6.4613	8.2544	0.31746	0.0:0.1388:0.2473:0.6139	.	1913;1913	Q14966-3;Q14966	.;ZN638_HUMAN	P	1913;1913;853	ENSP00000264447:S1913P;ENSP00000386433:S1913P;ENSP00000386813:S853P	ENSP00000264447:S1913P	S	+	1	0	ZNF638	71512051	0.000000	0.05858	0.013000	0.15412	0.985000	0.73830	-5.707000	0.00103	-1.253000	0.02488	0.392000	0.25879	TCT		0.428	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1		NM_014497	
