#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA|RNU6-1268P_ENST00000391214.1_RNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		POTE ankyrin domain family, member M							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					RP11-244H18.1_ENST00000547584.1_lincRNA	p.V308A	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			5	974	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		3	44	0	0	0	1	0	3	44				
PKN1	5585	broad.mit.edu	37	19	14580269	14580269	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr19:14580269C>T	ENST00000242783.6	+	16	2258	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	PKN1_ENST00000342216.4_Missense_Mutation_p.S704L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						ATGGAGTACTCGGCCGGTGGG	0.642																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2092-2094)tCg>tTg		protein kinase N1							98.0	111.0	106.0					19																	14580269		2130	4235	6365	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14580269C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2093C>T	19.37:g.14580269C>T	ENSP00000242783:p.Ser698Leu					PKN1_ENST00000342216.4_Missense_Mutation_p.S704L	p.S698L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			16	2258	+			698			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.2093C>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945344	0.53079	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.21191	2.02;2.02	4.07	4.07	0.47477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.175734	0.37095	U	0.002242	T	0.05135	0.0137	N	0.00859	-1.14	0.32254	N	0.571065	B;P	0.35328	0.44;0.495	B;B	0.23018	0.026;0.043	T	0.03423	-1.1038	10	0.49607	T	0.09	-15.9414	7.8581	0.29493	0.0:0.8862:0.0:0.1138	.	704;698	Q16512-2;Q16512	.;PKN1_HUMAN	L	698;704	ENSP00000242783:S698L;ENSP00000343325:S704L	ENSP00000242783:S698L	S	+	2	0	PKN1	14441269	0.994000	0.37717	0.926000	0.36857	0.948000	0.59901	5.426000	0.66476	2.256000	0.74724	0.491000	0.48974	TCG		0.642	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		5	65	0	0	0	1	0	5	65				
BIRC6	57448	broad.mit.edu	37	2	32740210	32740210	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr2:32740210T>A	ENST00000421745.2	+	55	10856	c.10722T>A	c.(10720-10722)caT>caA	p.H3574Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3574					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGCAATGTCATCATAGACTGT	0.418																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(10720-10722)caT>caA		baculoviral IAP repeat containing 6							108.0	103.0	104.0					2																	32740210		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740210T>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10722T>A	2.37:g.32740210T>A	ENSP00000393596:p.His3574Gln						p.H3574Q	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			55	10856	+	Acute lymphoblastic leukemia(172;0.155)		3574					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10722T>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	t	8.137	0.784283	0.16189	.	.	ENSG00000115760	ENST00000421745	T	0.73152	-0.72	5.68	-0.672	0.11377	.	0.113529	0.64402	D	0.000010	T	0.35566	0.0936	N	0.03115	-0.41	0.35324	D	0.784996	B	0.02656	0.0	B	0.04013	0.001	T	0.03403	-1.1040	10	0.30078	T	0.28	.	0.3544	0.00354	0.2268:0.2345:0.1779:0.3608	.	3574	Q9NR09	BIRC6_HUMAN	Q	3574	ENSP00000393596:H3574Q	ENSP00000393596:H3574Q	H	+	3	2	BIRC6	32593714	0.997000	0.39634	0.909000	0.35828	0.761000	0.43186	0.587000	0.23909	-0.136000	0.11475	-0.221000	0.12465	CAT		0.418	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		5	15	0	0	0	1	0	5	15				
TNXB	7148	broad.mit.edu	37	6	32013021	32013021	+	Silent	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr6:32013021G>A	ENST00000375244.3	-	32	10890	c.10689C>T	c.(10687-10689)acC>acT	p.T3563T	TNXB_ENST00000375247.2_Silent_p.T3561T|TNXB_ENST00000451343.1_5'UTR			P22105	TENX_HUMAN	tenascin XB	3608	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTCGGTCACGGTCAGCACTC	0.647																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10687-10689)acC>acT		tenascin XB							13.0	12.0	12.0					6																	32013021		1483	2653	4136	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32013021G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10689C>T	6.37:g.32013021G>A						TNXB_ENST00000451343.1_5'UTR|TNXB_ENST00000375247.2_Silent_p.T3561T	p.T3563T			P22105	TENX_HUMAN			32	10890	-			3608			Fibronectin type-III 27.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.10689C>T																																																																																					0.647	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		3	25	0	0	0	1	0	3	25				
GSTO1	9446	broad.mit.edu	37	10	106014945	106014945	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr10:106014945C>G	ENST00000369713.5	+	2	253	c.59C>G	c.(58-60)cCg>cGg	p.P20R	GSTO1_ENST00000369710.4_Missense_Mutation_p.P20R|GSTO1_ENST00000539281.1_5'UTR|GSTO1_ENST00000493946.1_3'UTR	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	20					cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	GGGCCGGTCCCGGAGGGCTCG	0.687																																						ENST00000369713.5																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(58-60)cCg>cGg		glutathione S-transferase omega 1	Glutathione(DB00143)						30.0	35.0	33.0					10																	106014945		2203	4300	6503	SO:0001583	missense	9446				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity	g.chr10:106014945C>G	AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.59C>G	10.37:g.106014945C>G	ENSP00000358727:p.Pro20Arg					GSTO1_ENST00000369710.4_Missense_Mutation_p.P20R|GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000539281.1_5'UTR	p.P20R	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	2	253	+		Colorectal(252;0.102)|Breast(234;0.122)	20					D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Missense_Mutation	SNP	ENST00000369713.5	37	c.59C>G	CCDS7555.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973528	0.92919	.	.	ENSG00000148834	ENST00000369710;ENST00000369713	T;T	0.09723	2.95;3.5	4.85	4.85	0.62838	Thioredoxin-like fold (2);	0.193414	0.56097	D	0.000026	T	0.38295	0.1035	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.25847	-1.0120	10	0.42905	T	0.14	-5.2496	18.1543	0.89686	0.0:1.0:0.0:0.0	.	20	P78417	GSTO1_HUMAN	R	20	ENSP00000358724:P20R;ENSP00000358727:P20R	ENSP00000358724:P20R	P	+	2	0	GSTO1	106004935	0.983000	0.35010	0.997000	0.53966	0.803000	0.45373	4.283000	0.58977	2.515000	0.84797	0.491000	0.48974	CCG		0.687	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050193.1	NM_004832		5	31	0	0	0	1	0	5	31				
CTNNAL1	8727	broad.mit.edu	37	9	111734982	111734982	+	Silent	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr9:111734982G>C	ENST00000325551.4	-	9	1406	c.1320C>G	c.(1318-1320)ctC>ctG	p.L440L	CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000374595.4_Silent_p.L440L|CTNNAL1_ENST00000325580.6_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	440					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TCTGTTCAGAGAGTTTACAGG	0.338																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1318-1320)ctC>ctG		catenin (cadherin-associated protein), alpha-like 1							117.0	119.0	118.0					9																	111734982		2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111734982G>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1320C>G	9.37:g.111734982G>C						CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325551.4_Silent_p.L440L	p.L440L			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	9	1399	-			440					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.1320C>G	CCDS6775.1																																																																																				0.338	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		3	64	0	0	0	1	0	3	64				
PCDHB7	56129	broad.mit.edu	37	5	140553634	140553634	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:140553634G>C	ENST00000231137.3	+	1	1392	c.1218G>C	c.(1216-1218)gaG>gaC	p.E406D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTAACAGAGAAACCTTTGG	0.502																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1216-1218)gaG>gaC									99.0	95.0	96.0					5																	140553634		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553634G>C	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1218G>C	5.37:g.140553634G>C	ENSP00000231137:p.Glu406Asp						p.E406D	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1392	+			406			Cadherin 4.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1218G>C	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	2.229	-0.376589	0.05000	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.52295	0.67	4.61	-1.16	0.09678	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22475	0.0542	N	0.10874	0.06	0.09310	N	1	B	0.21071	0.051	B	0.27887	0.084	T	0.21930	-1.0231	9	0.27082	T	0.32	.	1.2843	0.02047	0.2003:0.3171:0.2654:0.2171	.	406	Q9Y5E2	PCDB7_HUMAN	D	406;189	ENSP00000231137:E406D	ENSP00000231137:E406D	E	+	3	2	PCDHB7	140533818	0.000000	0.05858	0.146000	0.22360	0.718000	0.41266	-3.014000	0.00646	-0.142000	0.11354	0.650000	0.86243	GAG		0.502	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		11	33	0	0	0	1	0	11	33				
PCNX	22990	broad.mit.edu	37	14	71540394	71540394	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr14:71540394T>C	ENST00000304743.2	+	27	5431	c.4985T>C	c.(4984-4986)cTa>cCa	p.L1662P	PCNX_ENST00000439984.3_Missense_Mutation_p.L1551P|PCNX_ENST00000238570.5_Missense_Mutation_p.L1590P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1662						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGCGATGGCTAGCTTGGGAA	0.418																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(4984-4986)cTa>cCa		pecanex homolog (Drosophila)							239.0	211.0	221.0					14																	71540394		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71540394T>C	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4985T>C	14.37:g.71540394T>C	ENSP00000304192:p.Leu1662Pro					PCNX_ENST00000238570.5_Missense_Mutation_p.L1590P|PCNX_ENST00000439984.3_Missense_Mutation_p.L1551P	p.L1662P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	27	5431	+			1662					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4985T>C	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.3|22.3	4.272555|4.272555	0.80580|0.80580	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.13307|.	2.98;3.02;2.6|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78597|.	0.4308|.	M|M	0.85945|0.85945	2.785|2.785	0.50813|0.50813	D|D	0.999897|0.999897	D;D;D|.	0.89917|.	0.997;0.999;1.0|.	P;D;D|.	0.83275|.	0.894;0.979;0.996|.	T|.	0.81568|.	-0.0873|.	10|.	0.87932|.	D|.	0|.	.|.	15.1225|15.1225	0.72457|0.72457	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1590;1551;1662|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	P|Q	1662;1590;1551|649	ENSP00000304192:L1662P;ENSP00000238570:L1590P;ENSP00000396617:L1551P|.	ENSP00000238570:L1590P|.	L|X	+|+	2|1	0|0	PCNX|PCNX	70610147|70610147	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.972000|0.972000	0.66771|0.66771	7.482000|7.482000	0.81143|0.81143	2.221000|2.221000	0.72209|0.72209	0.528000|0.528000	0.53228|0.53228	CTA|TAG		0.418	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		22	84	0	0	0	1	0	22	84				
SIAH3	283514	broad.mit.edu	37	13	46358044	46358044	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr13:46358044G>A	ENST00000400405.2	-	2	390	c.284C>T	c.(283-285)gCg>gTg	p.A95V		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	95	His-rich.				multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GTGCAGCCCCGCCTCCtggtg	0.692																																						ENST00000400405.2																			0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(283-285)gCg>gTg		siah E3 ubiquitin protein ligase family member 3							39.0	44.0	42.0					13																	46358044		2147	4224	6371	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46358044G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.284C>T	13.37:g.46358044G>A	ENSP00000383256:p.Ala95Val						p.A95V	NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN			2	390	-			95			His-rich.		B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.284C>T	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	G	7.764	0.705947	0.15172	.	.	ENSG00000215475	ENST00000400405	T	0.27557	1.66	5.18	3.44	0.39384	Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	1.108720	0.06997	U	0.822655	T	0.18882	0.0453	N	0.08118	0	0.09310	N	0.99999	B	0.13145	0.007	B	0.11329	0.006	T	0.34750	-0.9816	10	0.21540	T	0.41	-3.0085	12.1682	0.54141	0.1535:0.0:0.8465:0.0	.	95	Q8IW03	SIAH3_HUMAN	V	95	ENSP00000383256:A95V	ENSP00000383256:A95V	A	-	2	0	SIAH3	45256045	0.002000	0.14202	0.667000	0.29798	0.145000	0.21501	0.202000	0.17295	0.218000	0.20820	-1.134000	0.01955	GCG		0.692	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		7	13	0	0	0	1	0	7	13				
NLRP4	147945	broad.mit.edu	37	19	56369355	56369355	+	Missense_Mutation	SNP	C	C	T	rs370421219	byFrequency	TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr19:56369355C>T	ENST00000301295.6	+	3	1018	c.596C>T	c.(595-597)aCg>aTg	p.T199M	NLRP4_ENST00000346986.5_Missense_Mutation_p.T199M|NLRP4_ENST00000587891.1_Missense_Mutation_p.T124M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	199	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.T199M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTGCCGCCAACGAGTTTGGCT	0.517													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19917	0.0		0.0	False		,,,				2504	0.001					ENST00000301295.6																			1	Substitution - Missense(1)	p.T199M(1)	upper_aerodigestive_tract(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(595-597)aCg>aTg		NLR family, pyrin domain containing 4		C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	101.0	101.0	101.0		596	-0.4	0.0	19		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP4	NM_134444.4	81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	199/995	56369355	3,13003	2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369355C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.596C>T	19.37:g.56369355C>T	ENSP00000301295:p.Thr199Met					NLRP4_ENST00000346986.5_Missense_Mutation_p.T199M|NLRP4_ENST00000587891.1_Missense_Mutation_p.T124M	p.T199M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1018	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	199			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.596C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	8.234	0.805414	0.16467	4.54E-4	1.16E-4	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78707	-1.2;-1.2	4.11	-0.4	0.12411	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.60586	0.2280	L	0.33485	1.01	0.09310	N	1	B;B;B	0.32128	0.063;0.051;0.357	B;B;B	0.24394	0.025;0.024;0.053	T	0.45249	-0.9274	9	0.33940	T	0.23	.	6.757	0.23520	0.0:0.4886:0.0:0.5114	.	199;124;199	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	M	199	ENSP00000301295:T199M;ENSP00000344787:T199M	ENSP00000301295:T199M	T	+	2	0	NLRP4	61061167	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.970000	0.03810	0.152000	0.19188	-1.020000	0.02445	ACG		0.517	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		11	53	0	0	0	1	0	11	53				
HUWE1	10075	broad.mit.edu	37	X	53576284	53576284	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chrX:53576284C>A	ENST00000342160.3	-	66	10128	c.9671G>T	c.(9670-9672)cGc>cTc	p.R3224L	HUWE1_ENST00000262854.6_Missense_Mutation_p.R3224L|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3224					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAGCAGACTGCGGATGACCCA	0.507																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(9670-9672)cGc>cTc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							98.0	91.0	93.0					X																	53576284		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53576284C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9671G>T	X.37:g.53576284C>A	ENSP00000340648:p.Arg3224Leu					HUWE1_ENST00000262854.6_Missense_Mutation_p.R3224L	p.R3224L			Q7Z6Z7	HUWE1_HUMAN			66	10128	-			3224					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.9671G>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249995	0.59212	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.39229	1.09;1.09	5.78	5.78	0.91487	.	0.060183	0.64402	D	0.000002	T	0.59905	0.2228	L	0.50333	1.59	0.80722	D	1	D;D	0.63046	0.987;0.992	D;D	0.72982	0.953;0.979	T	0.57004	-0.7885	10	0.44086	T	0.13	.	17.67	0.88214	0.0:1.0:0.0:0.0	.	3224;3208	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	L	3224	ENSP00000340648:R3224L;ENSP00000262854:R3224L	ENSP00000262854:R3224L	R	-	2	0	HUWE1	53593009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.905000	0.75714	2.445000	0.82738	0.600000	0.82982	CGC		0.507	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		3	47	1	0	1	1	1	3	47				
PTPRB	5787	broad.mit.edu	37	12	70932775	70932775	+	Missense_Mutation	SNP	C	C	T	rs371535586		TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr12:70932775C>T	ENST00000261266.5	-	25	5173	c.5144G>A	c.(5143-5145)cGa>cAa	p.R1715Q	RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1625Q|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1845Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1625Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1625Q|PTPRB_ENST00000334414.6_Missense_Mutation_p.R1933Q|RP11-588H23.3_ENST00000547656.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1715	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGACTGGTTTCGGCCCACGTC	0.358																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5797-5799)cGa>cAa		protein tyrosine phosphatase, receptor type, B		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3716		0,0,1858	67.0	66.0	67.0		5798,4874,4874,5144	5.8	1.0	12		67	2,8190		0,2,4094	no	missense,missense,missense,missense	PTPRB	NM_001109754.2,NM_001206971.1,NM_001206972.1,NM_002837.4	43,43,43,43	0,2,5952	TT,TC,CC		0.0244,0.0,0.0168	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1933/2216,1625/1908,1625/1908,1715/1998	70932775	2,11906	1858	4096	5954	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70932775C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5144G>A	12.37:g.70932775C>T	ENSP00000261266:p.Arg1715Gln					PTPRB_ENST00000550857.1_Missense_Mutation_p.R1625Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1625Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1845Q|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1715Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1625Q	p.R1933Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		27	5842	-	Renal(347;0.236)		1715			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5798G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615329	0.87359	0.0	2.44E-4	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	5.85	5.85	0.93711	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	N	0.26162	0.8	0.58432	D	0.999991	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.982;0.982;0.992;0.961;0.962	T	0.02358	-1.1171	10	0.24483	T	0.36	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	1625;1625;1933;1715;1845	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	Q	1933;1625;1845;1625;1625;1715	ENSP00000334928:R1933Q;ENSP00000393028:R1625Q;ENSP00000448058:R1845Q;ENSP00000438927:R1625Q;ENSP00000447302:R1625Q;ENSP00000261266:R1715Q	ENSP00000261266:R1715Q	R	-	2	0	PTPRB	69219042	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.706000	0.68362	2.767000	0.95098	0.563000	0.77884	CGA		0.358	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			4	18	0	0	0	1	0	4	18				
OR5K3	403277	broad.mit.edu	37	3	98109899	98109899	+	Silent	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr3:98109899G>A	ENST00000383695.1	+	1	390	c.390G>A	c.(388-390)ctG>ctA	p.L130L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GCAACCCACTGCAGTACCACA	0.473																																						ENST00000383695.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(388-390)ctG>ctA		olfactory receptor, family 5, subfamily K, member 3							168.0	156.0	160.0					3																	98109899		2203	4300	6503	SO:0001819	synonymous_variant	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109899G>A		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.390G>A	3.37:g.98109899G>A						RP11-325B23.2_ENST00000508616.1_lincRNA	p.L130L	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN			1	390	+			130						Silent	SNP	ENST00000383695.1	37	c.390G>A	CCDS33803.1																																																																																				0.473	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			16	67	0	0	0	1	0	16	67				
FAM209A	200232	broad.mit.edu	37	20	55099933	55099933	+	Silent	SNP	T	T	G			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr20:55099933T>G	ENST00000371328.3	+	1	392	c.69T>G	c.(67-69)tcT>tcG	p.S23S	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_Intron	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	23						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TTATGTTCTCTTCTCTGAGAC	0.537																																						ENST00000371328.3																			0											c.(67-69)tcT>tcG		family with sequence similarity 209, member A							98.0	93.0	95.0					20																	55099933		2203	4300	6503	SO:0001819	synonymous_variant	200232							g.chr20:55099933T>G	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.69T>G	20.37:g.55099933T>G						GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_Intron	p.S23S	NM_001012971.3	NP_001012989.2					1	392	+								Q05C43	Silent	SNP	ENST00000371328.3	37	c.69T>G	CCDS33493.1																																																																																				0.537	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			15	63	0	0	0	1	0	15	63				
NOVA2	4858	broad.mit.edu	37	19	46443952	46443952	+	Silent	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr19:46443952G>A	ENST00000263257.5	-	4	842	c.648C>T	c.(646-648)aaC>aaT	p.N216N		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	216					regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGCCTGCCACGTTGGCGTAGC	0.706																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(646-648)aaC>aaT		neuro-oncological ventral antigen 2							55.0	30.0	38.0					19																	46443952		2163	4235	6398	SO:0001819	synonymous_variant	4858					nucleus	RNA binding	g.chr19:46443952G>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.648C>T	19.37:g.46443952G>A							p.N216N	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	842	-		all_neural(266;0.113)|Ovarian(192;0.127)	216					O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	c.648C>T	CCDS12679.1																																																																																				0.706	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		4	22	0	0	0	1	0	4	22				
FAT2	2196	broad.mit.edu	37	5	150922533	150922533	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:150922533G>C	ENST00000261800.5	-	9	8167	c.8155C>G	c.(8155-8157)Caa>Gaa	p.Q2719E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2719	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGGATCTTGAGCTGCCACT	0.478																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8155-8157)Caa>Gaa		FAT atypical cadherin 2							70.0	72.0	71.0					5																	150922533		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922533G>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8155C>G	5.37:g.150922533G>C	ENSP00000261800:p.Gln2719Glu						p.Q2719E	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8167	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2719			Cadherin 24.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8155C>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	6.267	0.417466	0.11870	.	.	ENSG00000086570	ENST00000261800	T	0.50548	0.74	5.38	4.49	0.54785	Cadherin (4);Cadherin-like (1);	0.308863	0.26979	N	0.021522	T	0.27027	0.0662	N	0.15975	0.35	0.34854	D	0.741967	B	0.06786	0.001	B	0.10450	0.005	T	0.27054	-1.0085	10	0.21540	T	0.41	.	8.1351	0.31050	0.0:0.302:0.5717:0.1263	.	2719	Q9NYQ8	FAT2_HUMAN	E	2719	ENSP00000261800:Q2719E	ENSP00000261800:Q2719E	Q	-	1	0	FAT2	150902726	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.649000	0.54417	2.526000	0.85167	0.462000	0.41574	CAA		0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		34	72	0	0	0	1	0	34	72				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	48	0	0	0	1	0	4	48				
ZNF628	89887	broad.mit.edu	37	19	55994928	55994928	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr19:55994928G>T	ENST00000598519.1	+	3	2921	c.2368G>T	c.(2368-2370)Gct>Tct	p.A790S	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.A786S			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	790	Gly-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AGCGGCCAGCGCTGGGGCCAG	0.716																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(2356-2358)Gct>Tct		zinc finger protein 628							15.0	20.0	18.0					19																	55994928		2167	4246	6413	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55994928G>T	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2368G>T	19.37:g.55994928G>T	ENSP00000469591:p.Ala790Ser					ZNF628_ENST00000598519.1_Missense_Mutation_p.A790S	p.A786S			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	2921	+	Breast(117;0.155)		786			Gly-rich.		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.2356G>T	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	9.193	1.026474	0.19512	.	.	ENSG00000197483	ENST00000391718	T	0.07800	3.16	3.71	-2.5	0.06384	.	0.830051	0.09798	U	0.754437	T	0.04724	0.0128	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.40421	-0.9564	10	0.51188	T	0.08	-0.1487	4.5917	0.12310	0.414:0.1898:0.3962:0.0	.	786	Q5EBL2	ZN628_HUMAN	S	786	ENSP00000375598:A786S	ENSP00000375598:A786S	A	+	1	0	ZNF628	60686740	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	-0.713000	0.05007	-0.194000	0.10399	-0.448000	0.05591	GCT		0.716	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		7	23	1	0	0.00448238	1	0.00515474	7	23				
ROBO2	6092	broad.mit.edu	37	3	77147467	77147467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr3:77147467C>T	ENST00000461745.1	+	2	1264	c.364C>T	c.(364-366)Cga>Tga	p.R122*	ROBO2_ENST00000332191.8_Nonsense_Mutation_p.R122*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.R138*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	122	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.R122*(2)|p.R138*(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGCAGTGAGTCGAAATGCGTC	0.423																																						ENST00000461745.1																			3	Substitution - Nonsense(3)	p.R122*(2)|p.R138*(1)	central_nervous_system(2)|large_intestine(1)	NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(364-366)Cga>Tga		roundabout, axon guidance receptor, homolog 2 (Drosophila)							92.0	94.0	94.0					3																	77147467		2039	4196	6235	SO:0001587	stop_gained	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77147467C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.364C>T	3.37:g.77147467C>T	ENSP00000417164:p.Arg122*					ROBO2_ENST00000487694.3_Nonsense_Mutation_p.R138*|ROBO2_ENST00000332191.8_Nonsense_Mutation_p.R122*	p.R122*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	1264	+			122			Ig-like C2-type 1.		O43608|Q19AB4|Q19AB5	Nonsense_Mutation	SNP	ENST00000461745.1	37	c.364C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100605	0.56183	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	.	.	.	5.59	5.59	0.84812	.	0.000000	0.33419	U	0.004933	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5872	0.95495	0.0:1.0:0.0:0.0	.	.	.	.	X	138;138;138;122;122	.	ENSP00000327536:R122X	R	+	1	2	ROBO2	77230157	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	6.070000	0.71220	2.628000	0.89032	0.655000	0.94253	CGA		0.423	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		5	33	0	0	0	1	0	5	33				
GRIA1	2890	broad.mit.edu	37	5	153144077	153144077	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:153144077C>A	ENST00000285900.5	+	12	2250	c.1907C>A	c.(1906-1908)gCc>gAc	p.A636D	GRIA1_ENST00000518142.1_Missense_Mutation_p.A556D|GRIA1_ENST00000521843.2_Missense_Mutation_p.A567D|GRIA1_ENST00000448073.4_Missense_Mutation_p.A646D|GRIA1_ENST00000340592.5_Missense_Mutation_p.A636D|GRIA1_ENST00000518783.1_Missense_Mutation_p.A646D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	636					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AATCTGGCCGCCTTCCTGACC	0.547																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1906-1908)gCc>gAc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						121.0	102.0	109.0					5																	153144077		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153144077C>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1907C>A	5.37:g.153144077C>A	ENSP00000285900:p.Ala636Asp					GRIA1_ENST00000518783.1_Missense_Mutation_p.A646D|GRIA1_ENST00000518142.1_Missense_Mutation_p.A556D|GRIA1_ENST00000448073.4_Missense_Mutation_p.A646D|GRIA1_ENST00000521843.2_Missense_Mutation_p.A567D|GRIA1_ENST00000340592.5_Missense_Mutation_p.A636D	p.A636D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2250	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	636					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1907C>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031102	0.93575	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.26	5.26	0.73747	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.88665	0.6498	H	0.97465	4.01	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.92717	0.6188	10	0.87932	D	0	.	17.8377	0.88704	0.0:1.0:0.0:0.0	.	646;646;556;636;636	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	D	636;636;556;590;636;569;567;646;646	ENSP00000285900:A636D;ENSP00000427920:A556D;ENSP00000339343:A636D;ENSP00000427864:A569D;ENSP00000442108:A567D;ENSP00000428994:A646D;ENSP00000415569:A646D	ENSP00000285900:A636D	A	+	2	0	GRIA1	153124270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.642000	0.83385	2.443000	0.82685	0.555000	0.69702	GCC		0.547	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			3	47	1	0	0.115264	1	0.120503	3	47				
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465		TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		TGATTTTCTTCGCACTGATCC	0.408																																						ENST00000400153.2																			0																																																			0							g.chr15:23191911C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23191911C>T								NR_003521.1						0	1785	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.408	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	43	0	0	0	1	0	3	43				
CFHR3	10878	broad.mit.edu	37	1	196759243	196759243	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr1:196759243G>T	ENST00000367425.4	+	5	774	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L	CFHR3_ENST00000391985.3_Missense_Mutation_p.V167L	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	228	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TCTACTAAAAGTGTATGTGCC	0.413																																						ENST00000367425.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(682-684)Gtg>Ttg		complement factor H-related 3							50.0	75.0	68.0					1																	196759243		1704	3978	5682	SO:0001583	missense	10878							g.chr1:196759243G>T	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.682G>T	1.37:g.196759243G>T	ENSP00000356395:p.Val228Leu					CFHR3_ENST00000391985.3_Missense_Mutation_p.V167L	p.V228L	NM_021023.5	NP_066303.2					5	774	+								B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.682G>T	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	G	0.403	-0.917474	0.02396	.	.	ENSG00000116785	ENST00000367425;ENST00000391985	T;T	0.65178	-0.14;-0.14	3.25	-0.0888	0.13671	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.47563	0.1452	L	0.48218	1.51	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.17098	0.014;0.017	T	0.32322	-0.9911	9	0.27785	T	0.31	.	3.2516	0.06816	0.2791:0.2256:0.4953:0.0	.	167;228	B4DPR0;Q02985	.;FHR3_HUMAN	L	228;167	ENSP00000356395:V228L;ENSP00000375845:V167L	ENSP00000356395:V228L	V	+	1	0	CFHR3	195025866	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.160000	0.10041	0.025000	0.15241	0.175000	0.17021	GTG		0.413	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		10	80	1	0	3.27435e-08	1	3.86206e-08	10	80				
MYLK4	340156	broad.mit.edu	37	6	2680489	2680489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr6:2680489G>A	ENST00000274643.7	-	8	1066	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	MYLK4_ENST00000268446.5_Intron	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ATTTTTATTTGCTTAGCATCC	0.418																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(724-726)Caa>Taa		myosin light chain kinase family, member 4							183.0	186.0	185.0					6																	2680489		2203	4300	6503	SO:0001587	stop_gained	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2680489G>A		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.724C>T	6.37:g.2680489G>A	ENSP00000274643:p.Gln242*					MYLK4_ENST00000268446.5_Intron	p.Q242*	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			8	1066	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	242			Protein kinase.		A2RUC0|Q5TAW2	Nonsense_Mutation	SNP	ENST00000274643.7	37	c.724C>T	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	G	40	7.983276	0.98594	.	.	ENSG00000145949	ENST00000274643	.	.	.	5.54	5.54	0.83059	.	0.000000	0.44483	D	0.000460	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.8444	0.92198	0.0:0.0:1.0:0.0	.	.	.	.	X	242	.	ENSP00000274643:Q242X	Q	-	1	0	MYLK4	2625488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.062000	0.57492	2.758000	0.94735	0.655000	0.94253	CAA		0.418	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		21	80	0	0	0	1	0	21	80				
SUN2	25777	broad.mit.edu	37	22	39147338	39147338	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr22:39147338G>C	ENST00000405510.1	-	4	521	c.163C>G	c.(163-165)Cca>Gca	p.P55A	SUN2_ENST00000405018.1_Missense_Mutation_p.P55A|SUN2_ENST00000406622.1_Missense_Mutation_p.P55A|SUN2_ENST00000411587.2_Missense_Mutation_p.P90A|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.P55A	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	55	LMNA-binding. {ECO:0000250}.|Ser-rich.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						TGTGGCGCTGGGGACAGGCGC	0.617																																						ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(163-165)Cca>Gca		Sad1 and UNC84 domain containing 2							90.0	97.0	95.0					22																	39147338		2203	4300	6503	SO:0001583	missense	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39147338G>C	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.163C>G	22.37:g.39147338G>C	ENSP00000385740:p.Pro55Ala					SUN2_ENST00000216064.4_Missense_Mutation_p.P55A|SUN2_ENST00000411587.2_Missense_Mutation_p.P90A|SUN2_ENST00000406622.1_Missense_Mutation_p.P55A|SUN2_ENST00000405018.1_Missense_Mutation_p.P55A	p.P55A	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			4	521	-			55			LMNA-binding (By similarity).|Ser-rich.		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	37	c.163C>G	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621929	0.66787	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058;ENST00000456894;ENST00000420859;ENST00000452294;ENST00000433561;ENST00000417332;ENST00000439339	T;T;T;T;T;T;T;T;T;T;T;T	0.65916	2.48;2.48;1.44;2.48;1.99;1.03;0.13;0.09;0.26;0.33;-0.18;0.36	5.36	5.36	0.76844	.	0.078950	0.51477	D	0.000091	T	0.68860	0.3047	L	0.29908	0.895	0.38104	D	0.937362	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.83275	0.996;0.994;0.994;0.994;0.994	T	0.66304	-0.5957	10	0.21540	T	0.41	-12.6022	17.2724	0.87106	0.0:0.0:1.0:0.0	.	90;90;55;55;55	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	A	55;55;55;55;90;55;55;55;55;55;55;55	ENSP00000385740:P55A;ENSP00000216064:P55A;ENSP00000385616:P55A;ENSP00000383992:P55A;ENSP00000395601:P90A;ENSP00000406941:P55A;ENSP00000415588:P55A;ENSP00000408834:P55A;ENSP00000414950:P55A;ENSP00000411615:P55A;ENSP00000412928:P55A;ENSP00000393271:P55A	ENSP00000216064:P55A	P	-	1	0	SUN2	37477284	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	5.752000	0.68728	2.498000	0.84270	0.655000	0.94253	CCA		0.617	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		12	34	0	0	0	1	0	12	34				
ZNF827	152485	broad.mit.edu	37	4	146686246	146686246	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr4:146686246G>A	ENST00000508784.1	-	13	3351	c.3124C>T	c.(3124-3126)Ctc>Ttc	p.L1042F	ZNF827_ENST00000513320.1_Missense_Mutation_p.L692F|ZNF827_ENST00000379448.4_Missense_Mutation_p.L1042F			Q17R98	ZN827_HUMAN	zinc finger protein 827	1042					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CGGGTGATGAGGTGTATCTGC	0.502																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3124-3126)Ctc>Ttc		zinc finger protein 827							104.0	96.0	99.0					4																	146686246		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146686246G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.3124C>T	4.37:g.146686246G>A	ENSP00000421863:p.Leu1042Phe					ZNF827_ENST00000379448.4_Missense_Mutation_p.L1042F|ZNF827_ENST00000513320.1_Missense_Mutation_p.L692F	p.L1042F			Q17R98	ZN827_HUMAN			13	3351	-	all_hematologic(180;0.151)		1042					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.3124C>T		.	.	.	.	.	.	.	.	.	.	G	18.75	3.689834	0.68271	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.61040	0.14;0.14;0.14	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.70570	0.3239	L	0.43152	1.355	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.87578	0.996;0.998;0.996;0.991	T	0.73288	-0.4030	10	0.62326	D	0.03	-13.2564	18.3139	0.90210	0.0:0.0:1.0:0.0	.	692;1042;1042;692	G5E9Z1;Q17R98;Q17R98-2;E7ESI8	.;ZN827_HUMAN;.;.	F	1042;692;1042;1041;692	ENSP00000421863:L1042F;ENSP00000423130:L692F;ENSP00000368761:L1042F	ENSP00000281318:L1041F	L	-	1	0	ZNF827	146905696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	2.368000	0.80403	0.655000	0.94253	CTC		0.502	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		8	50	0	0	0	1	0	8	50				
ZBTB18	10472	broad.mit.edu	37	1	244217201	244217201	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr1:244217201C>T	ENST00000358704.4	+	2	274	c.125C>T	c.(124-126)gCc>gTc	p.A42V		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	33	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTGGGAGATGCCCAGTTCCGA	0.488																																						ENST00000358704.4																			0											c.(124-126)gCc>gTc		zinc finger and BTB domain containing 18							111.0	99.0	103.0					1																	244217201		2203	4300	6503	SO:0001583	missense	10472							g.chr1:244217201C>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.125C>T	1.37:g.244217201C>T	ENSP00000351539:p.Ala42Val						p.A42V	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	274	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.125C>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632007	0.87660	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.67523	-0.27	5.22	5.22	0.72569	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	N	0.16201	0.385	0.80722	D	1	D;D;B	0.69078	0.997;0.995;0.302	D;D;P	0.79108	0.992;0.925;0.472	T	0.61874	-0.6973	10	0.09590	T	0.72	.	18.7662	0.91874	0.0:1.0:0.0:0.0	.	42;33;42	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	V	42	ENSP00000351539:A42V	ENSP00000351539:A42V	A	+	2	0	ZNF238	242283824	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.432000	0.82394	0.655000	0.94253	GCC		0.488	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		3	38	0	0	0	1	0	3	38				
PAPOLB	56903	broad.mit.edu	37	7	4901353	4901353	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr7:4901353G>A	ENST00000404991.1	-	1	272	c.86C>T	c.(85-87)gCg>gTg	p.A29V	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	29					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTTGGGGACCGCTAGACTGAT	0.627																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(85-87)gCg>gTg		poly(A) polymerase beta (testis specific)							15.0	15.0	15.0					7																	4901353		1953	4140	6093	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901353G>A	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.86C>T	7.37:g.4901353G>A	ENSP00000384700:p.Ala29Val					RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.A29V	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	272	-		Ovarian(82;0.0175)	29					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.86C>T		.	.	.	.	.	.	.	.	.	.	G	10.02	1.236454	0.22711	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.13	3.22	0.36961	.	.	.	.	.	T	0.55816	0.1944	M	0.80616	2.505	0.53688	D	0.999973	P	0.35348	0.496	B	0.29353	0.101	T	0.63422	-0.6641	8	0.66056	D	0.02	.	11.3153	0.49388	0.0:0.0:0.8166:0.1834	.	30	A4D1Z6	.	V	29	.	ENSP00000384700:A29V	A	-	2	0	PAPOLB	4867879	1.000000	0.71417	0.160000	0.22671	0.036000	0.12997	3.744000	0.55112	1.290000	0.44636	0.655000	0.94253	GCG		0.627	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		4	16	0	0	0	1	0	4	16				
TTC22	55001	broad.mit.edu	37	1	55266618	55266618	+	Silent	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr1:55266618G>A	ENST00000371276.4	-	1	322	c.219C>T	c.(217-219)ggC>ggT	p.G73G	TTC22_ENST00000371274.4_Silent_p.G73G	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	73										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						ATGCGAAAGCGCCCAGGAGGT	0.711																																						ENST00000371276.4																			0				kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						c.(217-219)ggC>ggT		tetratricopeptide repeat domain 22							9.0	11.0	10.0					1																	55266618		2176	4272	6448	SO:0001819	synonymous_variant	55001						binding	g.chr1:55266618G>A	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.219C>T	1.37:g.55266618G>A						TTC22_ENST00000371274.4_Silent_p.G73G	p.G73G	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN			1	322	-			73					Q9NWT4	Silent	SNP	ENST00000371276.4	37	c.219C>T	CCDS44152.1																																																																																				0.711	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		3	7	0	0	0	1	0	3	7				
PDYN	5173	broad.mit.edu	37	20	1961195	1961195	+	Missense_Mutation	SNP	C	C	T	rs377075531		TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr20:1961195C>T	ENST00000217305.2	-	4	764	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PDYN_ENST00000540134.1_Missense_Mutation_p.R180H|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R180H	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGGTATTTGCGCAAAAAGCC	0.602																																						ENST00000217305.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(538-540)cGc>cAc		prodynorphin							99.0	103.0	102.0					20																	1961195		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961195C>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.539G>A	20.37:g.1961195C>T	ENSP00000217305:p.Arg180His					PDYN_ENST00000539905.1_Missense_Mutation_p.R180H|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R180H	p.R180H	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN			4	764	-			180					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.539G>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772531	0.90108	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.86769	-2.17;-2.17;-2.17	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95090	0.8221	10	0.87932	D	0	-18.2484	15.1657	0.72821	0.0:1.0:0.0:0.0	.	180	P01213	PDYN_HUMAN	H	180	ENSP00000440185:R180H;ENSP00000442259:R180H;ENSP00000217305:R180H	ENSP00000217305:R180H	R	-	2	0	PDYN	1909195	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.652000	0.61454	2.445000	0.82738	0.313000	0.20887	CGC		0.602	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			8	56	0	0	0	1	0	8	56				
DCAF4	26094	broad.mit.edu	37	14	73418524	73418524	+	Silent	SNP	C	C	T			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr14:73418524C>T	ENST00000358377.2	+	9	967	c.747C>T	c.(745-747)ctC>ctT	p.L249L	DCAF4_ENST00000555042.1_Silent_p.L249L|DCAF4_ENST00000394234.2_Silent_p.L149L|DCAF4_ENST00000553457.1_Silent_p.L149L|DCAF4_ENST00000509153.1_Silent_p.L188L|DCAF4_ENST00000353777.3_Intron	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	249					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TCATGGGACTCGCAGAGACTC	0.517																																						ENST00000553457.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						c.(445-447)ctC>ctT		DDB1 and CUL4 associated factor 4							201.0	180.0	188.0					14																	73418524		2203	4300	6503	SO:0001819	synonymous_variant	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73418524C>T	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.747C>T	14.37:g.73418524C>T						DCAF4_ENST00000509153.1_Silent_p.L188L|DCAF4_ENST00000394234.2_Silent_p.L149L|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000555042.1_Silent_p.L249L|DCAF4_ENST00000358377.2_Silent_p.L249L	p.L149L			Q8WV16	DCAF4_HUMAN			8	737	+			249					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Silent	SNP	ENST00000358377.2	37	c.447C>T	CCDS9809.1																																																																																				0.517	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		6	118	0	0	0	1	0	6	118				
MOGS	7841	broad.mit.edu	37	2	74688764	74688764	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr2:74688764C>T	ENST00000233616.4	-	4	2314	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.D612N|MOGS_ENST00000462443.1_5'Flank	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	718					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TGGCGGCTGTCGGCTAGAATG	0.582																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(2152-2154)Gac>Aac		mannosyl-oligosaccharide glucosidase							35.0	44.0	41.0					2																	74688764		2000	4187	6187	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74688764C>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2152G>A	2.37:g.74688764C>T	ENSP00000233616:p.Asp718Asn					MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.D612N	p.D718N	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	2314	-			718					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.2152G>A	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026266	0.75390	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.48836	0.8;0.8	5.15	5.15	0.70609	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	L	0.50993	1.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56335	-0.7996	10	0.30854	T	0.27	-20.915	16.1595	0.81693	0.0:1.0:0.0:0.0	.	718	Q13724	MOGS_HUMAN	N	718;612	ENSP00000233616:D718N;ENSP00000388201:D612N	ENSP00000233616:D718N	D	-	1	0	MOGS	74542272	0.999000	0.42202	0.998000	0.56505	0.971000	0.66376	4.074000	0.57577	2.687000	0.91594	0.563000	0.77884	GAC		0.582	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		3	42	0	0	0	1	0	3	42				
FREM2	341640	broad.mit.edu	37	13	39438593	39438593	+	Silent	SNP	T	T	G			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr13:39438593T>G	ENST00000280481.7	+	16	8049	c.7833T>G	c.(7831-7833)ccT>ccG	p.P2611P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2611					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGACATATCCTTACCAGTACA	0.438																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(7831-7833)ccT>ccG		FRAS1 related extracellular matrix protein 2							169.0	157.0	162.0					13																	39438593		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39438593T>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7833T>G	13.37:g.39438593T>G							p.P2611P	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	16	8049	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2611					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.7833T>G	CCDS31960.1																																																																																				0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		19	78	0	0	0	1	0	19	78				
TTLL2	83887	broad.mit.edu	37	6	167754223	167754223	+	Missense_Mutation	SNP	C	C	T	rs200167585		TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr6:167754223C>T	ENST00000239587.5	+	3	923	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	279	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGGGTTGGTTCGGTTTGCCAC	0.398																																						ENST00000239587.5																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(835-837)Cgg>Tgg		tubulin tyrosine ligase-like family, member 2							167.0	171.0	170.0					6																	167754223		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754223C>T	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.835C>T	6.37:g.167754223C>T	ENSP00000239587:p.Arg279Trp						p.R279W	NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	923	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	279			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.835C>T	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	C	9.182	1.023728	0.19433	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.17854	2.25	3.59	2.71	0.32032	.	0.000000	0.56097	D	0.000022	T	0.37265	0.0997	H	0.97491	4.015	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34900	-0.9810	10	0.87932	D	0	.	4.7879	0.13234	0.3186:0.5706:0.0:0.1108	.	279	Q9BWV7	TTLL2_HUMAN	W	279;206	ENSP00000239587:R279W	ENSP00000239587:R279W	R	+	1	2	TTLL2	167674213	0.961000	0.32948	0.001000	0.08648	0.021000	0.10359	0.400000	0.20932	0.833000	0.34828	0.484000	0.47621	CGG		0.398	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		33	88	0	0	0	1	0	33	88				
RFWD3	55159	broad.mit.edu	37	16	74670338	74670338	+	Silent	SNP	T	T	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr16:74670338T>C	ENST00000361070.4	-	8	1429	c.1332A>G	c.(1330-1332)gtA>gtG	p.V444V	RFWD3_ENST00000571750.1_Silent_p.V444V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	444					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGCCTGAGATACTGTGAAGG	0.547																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(1330-1332)gtA>gtG		ring finger and WD repeat domain 3							128.0	118.0	121.0					16																	74670338		2198	4300	6498	SO:0001819	synonymous_variant	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74670338T>C	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1332A>G	16.37:g.74670338T>C						RFWD3_ENST00000571750.1_Silent_p.V444V	p.V444V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			8	1429	-			444					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Silent	SNP	ENST00000361070.4	37	c.1332A>G	CCDS32486.1																																																																																				0.547	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		7	43	0	0	0	1	0	7	43				
CROCCP2	84809	broad.mit.edu	37	1	16959602	16959602	+	lincRNA	SNP	C	C	T	rs1807293	byFrequency	TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr1:16959602C>T	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)		p.A88A(2)									TCTGCAGTGACGCCTGCCTCA	0.602																																						ENST00000412962.1																			2	Substitution - coding silent(2)	p.A88A(2)	prostate(1)|endometrium(1)																																																0							g.chr1:16959602C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959602C>T														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.602	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	15	0	0	0	1	0	5	15				
FREM1	158326	broad.mit.edu	37	9	14805023	14805023	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr9:14805023C>A	ENST00000380880.3	-	19	4185	c.3402G>T	c.(3400-3402)gaG>gaT	p.E1134D	FREM1_ENST00000380881.4_Missense_Mutation_p.E1135D|FREM1_ENST00000422223.2_Missense_Mutation_p.E1134D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1134					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAAATGGTATCTCCAAGGAGT	0.413																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3403-3405)gaG>gaT		FRAS1 related extracellular matrix 1							139.0	137.0	137.0					9																	14805023		1910	4131	6041	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14805023C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3402G>T	9.37:g.14805023C>A	ENSP00000370262:p.Glu1134Asp					FREM1_ENST00000422223.2_Missense_Mutation_p.E1134D|FREM1_ENST00000380880.3_Missense_Mutation_p.E1134D	p.E1135D			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	20	4220	-			1134					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.3405G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	5.174	0.217737	0.09810	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.44083	0.93;0.93;0.93	5.42	0.467	0.16721	.	0.350198	0.32785	N	0.005651	T	0.35770	0.0943	M	0.71036	2.16	0.09310	N	0.999999	P	0.37864	0.61	B	0.38616	0.277	T	0.21211	-1.0252	10	0.17832	T	0.49	-12.9579	6.965	0.24617	0.0:0.5191:0.1206:0.3602	.	1134	Q5H8C1	FREM1_HUMAN	D	1135;1134;1134	ENSP00000370263:E1135D;ENSP00000412940:E1134D;ENSP00000370262:E1134D	ENSP00000370257:E1137D	E	-	3	2	FREM1	14795023	0.190000	0.23276	0.021000	0.16686	0.104000	0.19210	0.004000	0.13106	0.180000	0.19960	0.650000	0.86243	GAG		0.413	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		3	51	1	0	1	1	1	3	51				
HDAC3	8841	broad.mit.edu	37	5	141009253	141009253	+	Silent	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:141009253G>C	ENST00000305264.3	-	6	553	c.474C>G	c.(472-474)ctC>ctG	p.L158L		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	158	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CTACTTACTTGAGCAGCTCCA	0.532																																						ENST00000305264.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13						c.(472-474)ctC>ctG		histone deacetylase 3	Vorinostat(DB02546)						107.0	107.0	107.0					5																	141009253		2203	4300	6503	SO:0001819	synonymous_variant	8841				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding	g.chr5:141009253G>C	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.474C>G	5.37:g.141009253G>C							p.L158L	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	553	-			158			Histone deacetylase.		D3DQE1|O43268|Q9UEI5|Q9UEV0	Silent	SNP	ENST00000305264.3	37	c.474C>G	CCDS4264.1																																																																																				0.532	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		9	57	0	0	0	1	0	9	57				
NAT16	375607	broad.mit.edu	37	7	100817842	100817842	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr7:100817842G>A	ENST00000300303.2	-	2	485	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	NAT16_ENST00000443096.1_Missense_Mutation_p.R83C|NAT16_ENST00000455377.1_Missense_Mutation_p.R83C	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	83	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										CTGTGGTAGCGGCTAGGAAGG	0.687																																						ENST00000300303.2																			0											c.(247-249)Cgc>Tgc		N-acetyltransferase 16 (GCN5-related, putative)							37.0	32.0	34.0					7																	100817842		2192	4287	6479	SO:0001583	missense	375607						N-acetyltransferase activity	g.chr7:100817842G>A	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.247C>T	7.37:g.100817842G>A	ENSP00000300303:p.Arg83Cys					NAT16_ENST00000455377.1_Missense_Mutation_p.R83C|NAT16_ENST00000443096.1_Missense_Mutation_p.R83C	p.R83C	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN			2	485	-			83			N-acetyltransferase.		B3KRS2|Q8NDR1	Missense_Mutation	SNP	ENST00000300303.2	37	c.247C>T	CCDS5713.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849069	0.51270	.	.	ENSG00000167011	ENST00000300303;ENST00000455377;ENST00000444446;ENST00000443096	T;T;T;T	0.50001	0.92;0.92;0.92;0.76	3.72	1.66	0.24008	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.083989	0.43919	N	0.000520	T	0.33352	0.0860	L	0.43152	1.355	0.35761	D	0.820161	B;B	0.33266	0.105;0.404	B;B	0.27170	0.025;0.077	T	0.43048	-0.9415	10	0.87932	D	0	.	7.0291	0.24956	0.2655:0.0:0.7345:0.0	.	83;83	B3KRS2;Q8N8M0	.;CG052_HUMAN	C	83	ENSP00000300303:R83C;ENSP00000395125:R83C;ENSP00000391769:R83C;ENSP00000394435:R83C	ENSP00000300303:R83C	R	-	1	0	C7orf52	100604562	0.995000	0.38212	0.199000	0.23439	0.935000	0.57460	0.539000	0.23175	0.771000	0.33359	0.407000	0.27541	CGC		0.687	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		6	17	0	0	0	1	0	6	17				
GBP5	115362	broad.mit.edu	37	1	89728373	89728374	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr1:89728373_89728374insT	ENST00000370459.3	-	9	1584_1585	c.1457_1458insA	c.(1456-1458)aagfs	p.K486fs	GBP5_ENST00000343435.5_Frame_Shift_Ins_p.K486fs|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	486						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CACCTTTCTTCTTTTTTTCCGT	0.376																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1456-1458)aaafs		guanylate binding protein 5																																				SO:0001589	frameshift_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89728373_89728374insT	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1458dupA	1.37:g.89728380_89728380dupT	ENSP00000359488:p.Lys486fs					GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Frame_Shift_Ins_p.K486fs|RP4-620F22.2_ENST00000437128.1_RNA	p.K486fs	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	10	1993_1994	-			486					B2RCE1|Q86TM5	Frame_Shift_Ins	INS	ENST00000370459.3	37	c.1457_1458insA	CCDS722.1																																																																																				0.376	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		7	38						7	38	---	---	---	---
WDR48	57599	broad.mit.edu	37	3	39104561	39104561	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr3:39104561delT	ENST00000302313.5	+	2	97	c.69delT	c.(67-69)gatfs	p.D23fs	WDR48_ENST00000396258.3_5'UTR|WDR48_ENST00000544962.1_Intron|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	23					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTATTCGAGATGAAGTGGAGA	0.388																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(67-69)gafs		WD repeat domain 48							97.0	95.0	96.0					3																	39104561		2203	4300	6503	SO:0001589	frameshift_variant	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39104561delT	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.69delT	3.37:g.39104561delT	ENSP00000307491:p.Asp23fs					WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_5'UTR	p.D23fs	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	2	97	+			23					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Frame_Shift_Del	DEL	ENST00000302313.5	37	c.69delT	CCDS33738.1																																																																																				0.388	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		15	73						15	73	---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124729320	124729320	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr3:124729320delC	ENST00000311127.4	-	7	3103	c.3036delG	c.(3034-3036)aggfs	p.R1012fs	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1012	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AAGGCGGGCACCTGCAGTGGT	0.537																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(3034-3036)agfs		heart development protein with EGF-like domains 1							39.0	41.0	40.0					3																	124729320		1938	4123	6061	SO:0001589	frameshift_variant	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124729320delC	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3036delG	3.37:g.124729320delC	ENSP00000311502:p.Arg1012fs						p.R1012fs	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			7	3103	-			1012			EGF-like 1.		Q6NX66|Q8NC40|Q9BSV0	Frame_Shift_Del	DEL	ENST00000311127.4	37	c.3036delG	CCDS46898.1																																																																																				0.537	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		2	4						2	4	---	---	---	---
DNAJC4	3338	broad.mit.edu	37	11	63997567	63997567	+	5'Flank	DEL	A	A	-	rs10708923|rs63552063	byFrequency	TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr11:63997567delA	ENST00000321685.3	+	0	0				RP11-783K16.14_ENST00000539963.1_RNA|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321460.5_5'Flank|DNAJC4_ENST00000355040.4_5'Flank	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4						protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						GTGACTTGGGAAAAAAAAAAA	0.498													|||unknown(HR)	2125	0.424321	0.4319	0.3833	5008	,	,		15038	0.4623		0.3926	False		,,,				2504	0.4366					ENST00000534988.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr11:63997567delA	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792		11.37:g.63997567delA	Exception_encountered													0	99	-								O14716	RNA	DEL	ENST00000321685.3	37		CCDS41666.1																																																																																				0.498	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			2	4						2	4	---	---	---	---
SNORA11	677799	broad.mit.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs566317626		TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr14:70270922delT	ENST00000408133.1	-	0	126									small nucleolar RNA, H/ACA box 11																		ATGGATTCTCTTTTTTTTTTT	0.353																																						ENST00000408133.1																			0																																																			0							g.chr14:70270922delT	AM055729		Xp11.21	2013-09-05			ENSG00000221716	ENSG00000221716		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32599	non-coding RNA	RNA, small nucleolar	"""small nucleolar RNA, H/ACA box 11A"""	300662				16361266, 16381836	Standard	NR_002953		Approved	U107, SNORA11A	uc021ptl.1				14.37:g.70270922delT														0	126	-									RNA	DEL	ENST00000408133.1	37																																																																																						0.353	SNORA11.1-201	NOVEL	basic	snoRNA	snoRNA		NR_002953		3	3						3	3	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			3	5						3	5	---	---	---	---
