#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
OR4K17	390436	broad.mit.edu	37	14	20586459	20586459	+	Silent	SNP	A	A	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:20586459A>T	ENST00000315543.4	+	1	894	c.894A>T	c.(892-894)gtA>gtT	p.V298V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACCACTCTGTAGATAAGTTCC	0.398																																						ENST00000315543.4																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(892-894)gtA>gtT		olfactory receptor, family 4, subfamily K, member 17							89.0	82.0	84.0					14																	20586459		2203	4300	6503	SO:0001819	synonymous_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586459A>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.894A>T	14.37:g.20586459A>T							p.V298V	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	894	+	all_cancers(95;0.00108)		270					Q6IF12	Silent	SNP	ENST00000315543.4	37	c.894A>T	CCDS32030.1																																																																																				0.398	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			13	44	0	0	0	0.013537	0	13	44				
RCC1	1104	broad.mit.edu	37	1	28863285	28863285	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:28863285G>A	ENST00000373833.6	+	12	1249	c.964G>A	c.(964-966)Gag>Aag	p.E322K	RCC1_ENST00000398958.2_Missense_Mutation_p.E322K|RCC1_ENST00000373832.1_Missense_Mutation_p.E322K|RCC1_ENST00000373831.3_Missense_Mutation_p.E353K			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	322					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCGGGCTGAGTATGGGCG	0.612																																						ENST00000373833.6																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(964-966)Gag>Aag		regulator of chromosome condensation 1							94.0	95.0	95.0					1																	28863285		2203	4300	6503	SO:0001583	missense	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28863285G>A	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.964G>A	1.37:g.28863285G>A	ENSP00000362939:p.Glu322Lys					RCC1_ENST00000373832.1_Missense_Mutation_p.E322K|RCC1_ENST00000398958.2_Missense_Mutation_p.E322K|RCC1_ENST00000373831.3_Missense_Mutation_p.E353K	p.E322K			P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	12	1249	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	322					Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.964G>A	CCDS323.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955818	0.92726	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	5.8	5.8	0.92144	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.88314	0.6403	M	0.62723	1.935	0.80722	D	1	D;D;P	0.58268	0.982;0.971;0.939	P;P;P	0.51355	0.667;0.588;0.447	D	0.87595	0.2493	10	0.44086	T	0.13	-28.4638	18.6252	0.91334	0.0:0.0:1.0:0.0	.	353;339;322	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	K	322;322;322;353;339	ENSP00000381931:E322K;ENSP00000362939:E322K;ENSP00000362938:E322K;ENSP00000362937:E353K;ENSP00000413644:E339K	ENSP00000362937:E353K	E	+	1	0	RCC1	28735872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.824000	0.99380	2.741000	0.93983	0.655000	0.94253	GAG		0.612	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		42	161	0	0	0	0.036044	0	42	161				
CHD9	80205	broad.mit.edu	37	16	53262947	53262947	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:53262947A>G	ENST00000398510.3	+	7	2308	c.2221A>G	c.(2221-2223)Agg>Ggg	p.R741G	CHD9_ENST00000447540.1_Missense_Mutation_p.R741G|CHD9_ENST00000564845.1_Missense_Mutation_p.R741G|CHD9_ENST00000566029.1_Missense_Mutation_p.R741G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	741	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAAGATAAAAGGATCCAGCA	0.318																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(2221-2223)Agg>Ggg		chromodomain helicase DNA binding protein 9							38.0	33.0	35.0					16																	53262947		1804	4073	5877	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53262947A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2221A>G	16.37:g.53262947A>G	ENSP00000381522:p.Arg741Gly					CHD9_ENST00000447540.1_Missense_Mutation_p.R741G|CHD9_ENST00000398510.3_Missense_Mutation_p.R741G|CHD9_ENST00000564845.1_Missense_Mutation_p.R741G	p.R741G			Q3L8U1	CHD9_HUMAN			8	2430	+		all_cancers(37;0.0212)	741			Chromo 1.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.2221A>G		.	.	.	.	.	.	.	.	.	.	A	19.25	3.791836	0.70452	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.88046	-2.25;-2.33	5.36	5.36	0.76844	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.64402	D	0.000007	D	0.93015	0.7777	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.62365	0.983;0.984;0.991;0.989	D;D;D;D	0.78314	0.943;0.954;0.991;0.985	D	0.93397	0.6757	10	0.59425	D	0.04	-11.8628	11.3756	0.49726	0.8486:0.1514:0.0:0.0	.	267;741;741;741	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	G	741;741;267	ENSP00000396345:R741G;ENSP00000381522:R741G	ENSP00000219084:R267G	R	+	1	2	CHD9	51820448	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.879000	0.69690	2.021000	0.59480	0.377000	0.23210	AGG		0.318	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		2	11	0	0	0	0.004672	0	2	11				
NFATC4	4776	broad.mit.edu	37	14	24839163	24839163	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:24839163G>A	ENST00000250373.4	+	2	700	c.559G>A	c.(559-561)Gac>Aac	p.D187N	NFATC4_ENST00000554050.1_Missense_Mutation_p.D187N|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556169.1_Missense_Mutation_p.D175N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D187N|NFATC4_ENST00000413692.2_Missense_Mutation_p.D250N|NFATC4_ENST00000557451.1_Missense_Mutation_p.D117N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D219N|NFATC4_ENST00000556279.1_Missense_Mutation_p.D219N|NFATC4_ENST00000554344.1_Missense_Mutation_p.D117N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D250N|NFATC4_ENST00000555590.1_Missense_Mutation_p.D200N|NFATC4_ENST00000555453.1_Missense_Mutation_p.D175N|NFATC4_ENST00000422617.3_Missense_Mutation_p.D175N|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000424781.2_Missense_Mutation_p.D200N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D117N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D200N|NFATC4_ENST00000553469.1_Missense_Mutation_p.D219N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D117N|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000556759.1_5'Flank	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	187	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGATGCCTCTGACGAGGCAGC	0.682																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(748-750)Gac>Aac		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							23.0	25.0	24.0					14																	24839163		2157	4264	6421	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24839163G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.559G>A	14.37:g.24839163G>A	ENSP00000250373:p.Asp187Asn					NFATC4_ENST00000557451.1_Missense_Mutation_p.D117N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D187N|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554050.1_Missense_Mutation_p.D187N|NFATC4_ENST00000424781.2_Missense_Mutation_p.D200N|NFATC4_ENST00000555453.1_Missense_Mutation_p.D175N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D117N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D117N|NFATC4_ENST00000553469.1_Missense_Mutation_p.D219N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D200N|NFATC4_ENST00000554344.1_Missense_Mutation_p.D117N|NFATC4_ENST00000250373.4_Missense_Mutation_p.D187N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D219N|NFATC4_ENST00000555590.1_Missense_Mutation_p.D200N|NFATC4_ENST00000422617.3_Missense_Mutation_p.D175N|NFATC4_ENST00000556279.1_Missense_Mutation_p.D219N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D250N|NFATC4_ENST00000556169.1_Missense_Mutation_p.D175N	p.D250N	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	892	+			187			2 approximate SP repeats.|Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.748G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215035	0.39102	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46	3.61	3.61	0.41365	.	0.242174	0.28560	N	0.014901	T	0.23766	0.0575	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.69078	0.978;0.978;0.978;0.978;0.978;0.978;0.978;0.997;0.997;0.978;0.997;0.995;0.978;0.963	P;P;P;P;P;P;P;P;P;P;P;P;P;B	0.62184	0.629;0.629;0.629;0.629;0.629;0.629;0.629;0.899;0.899;0.629;0.855;0.795;0.719;0.425	T	0.03103	-1.1072	10	0.54805	T	0.06	-6.5012	13.1146	0.59294	0.0:0.0:1.0:0.0	.	175;175;219;219;200;200;200;250;250;175;219;164;250;187	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	N	250;250;200;200;200;219;219;219;187;187;187;164;117;117;117;175;117;175;175	ENSP00000388910:D250N;ENSP00000452039:D250N;ENSP00000451224:D200N;ENSP00000450644:D200N;ENSP00000388668:D200N;ENSP00000439350:D219N;ENSP00000452270:D219N;ENSP00000451502:D219N;ENSP00000451151:D187N;ENSP00000250373:D187N;ENSP00000450590:D187N;ENSP00000452352:D164N;ENSP00000452349:D117N;ENSP00000450469:D117N;ENSP00000450733:D117N;ENSP00000451454:D175N;ENSP00000451284:D117N;ENSP00000396788:D175N;ENSP00000450686:D175N	ENSP00000250373:D187N	D	+	1	0	NFATC4	23909003	0.998000	0.40836	0.202000	0.23494	0.914000	0.54420	5.575000	0.67430	2.009000	0.58944	0.467000	0.42956	GAC		0.682	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		4	56	0	0	0	0.009096	0	4	56				
GIMAP4	55303	broad.mit.edu	37	7	150269372	150269372	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:150269372C>T	ENST00000255945.2	+	3	389	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.R86C	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	72	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGTGAGAAACGCAGCAGCTC	0.478																																						ENST00000255945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(214-216)Cgc>Tgc		GTPase, IMAP family member 4							106.0	92.0	97.0					7																	150269372		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269372C>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.214C>T	7.37:g.150269372C>T	ENSP00000255945:p.Arg72Cys					GIMAP4_ENST00000461940.1_Missense_Mutation_p.R86C|GIMAP4_ENST00000494750.1_3'UTR	p.R72C	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	389	+			72						Missense_Mutation	SNP	ENST00000255945.2	37	c.214C>T	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932607	0.52866	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000479232	T;T;T	0.61742	0.08;0.08;0.08	4.61	-6.86	0.01676	AIG1 (1);	1.439610	0.04402	N	0.364450	T	0.45637	0.1352	N	0.26130	0.795	0.09310	N	1	D;D	0.61697	0.99;0.981	P;B	0.47744	0.556;0.252	T	0.55108	-0.8192	10	0.54805	T	0.06	.	7.5758	0.27935	0.2509:0.5048:0.2443:0.0	.	86;72	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	C	72;86;86	ENSP00000255945:R72C;ENSP00000419545:R86C;ENSP00000418615:R86C	ENSP00000255945:R72C	R	+	1	0	GIMAP4	149900305	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.798000	0.04565	-1.095000	0.03050	-0.165000	0.13383	CGC		0.478	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		9	53	0	0	0	0.006214	0	9	53				
DYNLT1	6993	broad.mit.edu	37	6	159058186	159058186	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159058186G>A	ENST00000367089.3	-	4	275	c.245C>T	c.(244-246)tCc>tTc	p.S82F	DYNLT1_ENST00000367088.1_Missense_Mutation_p.S13F	NM_006519.2	NP_006510.1	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	82	Interaction with GNB1. {ECO:0000250}.				establishment of mitotic spindle orientation (GO:0000132)|intracellular transport of viral protein in host cell (GO:0019060)|microtubule-dependent intracellular transport of viral material towards nucleus (GO:0075521)|mitotic nuclear division (GO:0007067)|negative regulation of neurogenesis (GO:0050768)|neuron projection morphogenesis (GO:0048812)|regulation of cytoskeleton organization (GO:0051493)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of Rac GTPase activity (GO:0032314)|viral entry into host cell (GO:0046718)	cytoplasmic dynein complex (GO:0005868)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)	identical protein binding (GO:0042802)|motor activity (GO:0003774)			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CCAGAAGCAGGAACTTGCTGT	0.368																																						ENST00000367088.1																			0				lung(2)	2						c.(37-39)tCc>tTc		dynein, light chain, Tctex-type 1							79.0	74.0	76.0					6																	159058186		2203	4300	6503	SO:0001583	missense	6993				cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity	g.chr6:159058186G>A	D50663	CCDS5257.1	6q25.2-q25.3	2008-02-05	2005-11-24	2005-11-24	ENSG00000146425	ENSG00000146425		"""Cytoplasmic dyneins"""	11697	protein-coding gene	gene with protein product		601554	"""t-complex-associated-testis-expressed 1-like 1"""	TCTEL1		8646886, 16260502	Standard	XM_005267117		Approved		uc003qrn.2	P63172	OTTHUMG00000015918	ENST00000367089.3:c.245C>T	6.37:g.159058186G>A	ENSP00000356056:p.Ser82Phe					DYNLT1_ENST00000367089.3_Missense_Mutation_p.S82F	p.S13F			P63172	DYLT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)	2	2210	-		Breast(66;0.00519)|Ovarian(120;0.123)	82					Q15763|Q5VTU4	Missense_Mutation	SNP	ENST00000367089.3	37	c.38C>T	CCDS5257.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820451	0.90873	.	.	ENSG00000146425	ENST00000367089;ENST00000367088	T;T	0.33438	1.41;1.41	5.11	5.11	0.69529	.	0.054302	0.85682	D	0.000000	T	0.64605	0.2613	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76879	-0.2796	10	0.87932	D	0	-40.5174	18.9189	0.92518	0.0:0.0:1.0:0.0	.	82	P63172	DYLT1_HUMAN	F	82;13	ENSP00000356056:S82F;ENSP00000356055:S13F	ENSP00000356055:S13F	S	-	2	0	DYNLT1	158978174	1.000000	0.71417	0.837000	0.33122	0.867000	0.49689	9.462000	0.97649	2.535000	0.85469	0.655000	0.94253	TCC		0.368	DYNLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042881.1	NM_006519		12	54	0	0	0	0.020292	0	12	54				
PI4KB	5298	broad.mit.edu	37	1	151288518	151288518	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:151288518T>C	ENST00000368873.1	-	2	608	c.440A>G	c.(439-441)tAc>tGc	p.Y147C	PI4KB_ENST00000368872.1_Missense_Mutation_p.Y147C|PI4KB_ENST00000368875.2_Missense_Mutation_p.Y159C|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000271657.5_Missense_Mutation_p.Y159C|PI4KB_ENST00000368874.4_Missense_Mutation_p.Y147C			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	147	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTATACAGGTATGAAATGGC	0.498																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(475-477)tAc>tGc		phosphatidylinositol 4-kinase, catalytic, beta							78.0	78.0	78.0					1																	151288518		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151288518T>C	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.440A>G	1.37:g.151288518T>C	ENSP00000357867:p.Tyr147Cys					PI4KB_ENST00000368872.1_Missense_Mutation_p.Y147C|PI4KB_ENST00000368874.4_Missense_Mutation_p.Y147C|PI4KB_ENST00000271657.5_Missense_Mutation_p.Y159C|PI4KB_ENST00000368873.1_Missense_Mutation_p.Y147C|PI4KB_ENST00000529142.1_Intron	p.Y159C	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	1056	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		147					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.476A>G		.	.	.	.	.	.	.	.	.	.	T	20.6	4.020435	0.75275	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;0.989;1.0	D;P;D	0.97110	0.999;0.873;1.0	T	0.80011	-0.1561	10	0.87932	D	0	-2.9892	14.6298	0.68647	0.0:0.0:0.0:1.0	.	147;147;147	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	C	147;159;159;147;147;147	ENSP00000357868:Y147C;ENSP00000357869:Y159C;ENSP00000271657:Y159C;ENSP00000357867:Y147C;ENSP00000357866:Y147C;ENSP00000394719:Y147C	ENSP00000271657:Y159C	Y	-	2	0	PI4KB	149555142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.781000	0.85668	2.324000	0.78689	0.533000	0.62120	TAC		0.498	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		4	82	0	0	0	0.014758	0	4	82				
PTCHD4	442213	broad.mit.edu	37	6	47847599	47847599	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:47847599G>C	ENST00000339488.4	-	3	1014	c.981C>G	c.(979-981)gaC>gaG	p.D327E		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	327	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTGCTATCCTGTCTTTGAAGG	0.433																																						ENST00000339488.4																			0											c.(979-981)gaC>gaG		patched domain containing 4							34.0	35.0	35.0					6																	47847599		2203	4299	6502	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847599G>C		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.981C>G	6.37:g.47847599G>C	ENSP00000341914:p.Asp327Glu						p.D327E	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	1014	-			327			SSD.		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.981C>G	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	0.829	-0.745971	0.03065	.	.	ENSG00000244694	ENST00000339488	D	0.90676	-2.71	5.25	5.25	0.73442	Sterol-sensing domain (1);	.	.	.	.	T	0.61602	0.2360	N	0.01679	-0.765	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.66504	-0.5907	9	0.02654	T	1	.	18.8631	0.92281	0.0:0.0:1.0:0.0	.	327	Q6ZW05	CF138_HUMAN	E	327	ENSP00000341914:D327E	ENSP00000341914:D327E	D	-	3	2	C6orf138	47955558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.517000	0.35867	2.473000	0.83533	0.650000	0.86243	GAC		0.433	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		2	16	0	0	0	0.004672	0	2	16				
ZZEF1	23140	broad.mit.edu	37	17	3937546	3937546	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:3937546G>A	ENST00000381638.2	-	40	6471	c.6347C>T	c.(6346-6348)cCa>cTa	p.P2116L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2116							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAACATGAGTGGAAGGACGTG	0.493																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(6346-6348)cCa>cTa		zinc finger, ZZ-type with EF-hand domain 1							81.0	70.0	74.0					17																	3937546		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3937546G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6347C>T	17.37:g.3937546G>A	ENSP00000371051:p.Pro2116Leu						p.P2116L	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			40	6471	-			2116					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.6347C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160880	0.94727	.	.	ENSG00000074755	ENST00000381638	T	0.27104	1.69	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	L	0.32530	0.975	0.80722	D	1	D;P	0.89917	1.0;0.953	D;P	0.91635	0.999;0.857	T	0.30357	-0.9981	10	0.87932	D	0	-9.8962	19.5818	0.95469	0.0:0.0:1.0:0.0	.	2116;2116	O43149-2;O43149	.;ZZEF1_HUMAN	L	2116	ENSP00000371051:P2116L	ENSP00000371051:P2116L	P	-	2	0	ZZEF1	3884295	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.187000	0.77730	2.850000	0.98022	0.650000	0.86243	CCA		0.493	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		3	80	0	0	0	0.004672	0	3	80				
ICAM1	3383	broad.mit.edu	37	19	10381886	10381886	+	Silent	SNP	C	C	T	rs530490957		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:10381886C>T	ENST00000264832.3	+	1	376	c.51C>T	c.(49-51)ctC>ctT	p.L17L	ICAM1_ENST00000423829.2_Silent_p.L17L|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	17				L -> F (in Ref. 11; AAQ14902). {ECO:0000305}.	adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	TGGTCCTGCTCGGGGCTCTGT	0.677																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(49-51)ctC>ctT		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						15.0	19.0	18.0					19																	10381886		2201	4295	6496	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10381886C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.51C>T	19.37:g.10381886C>T						CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.L17L	p.L17L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		1	376	+			17	L -> F (in Ref. 11; AAQ14902).				B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.51C>T	CCDS12231.1																																																																																				0.677	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			5	19	0	0	0	0.014758	0	5	19				
SPDYA	245711	broad.mit.edu	37	2	29063092	29063092	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:29063092C>T	ENST00000334056.5	+	7	796	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Missense_Mutation_p.H203Y	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A											cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTCTGTTCATCACAGTGGAGC	0.398																																						ENST00000334056.5																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(607-609)Cac>Tac		speedy/RINGO cell cycle regulator family member A							59.0	53.0	55.0					2																	29063092		2203	4300	6503	SO:0001583	missense	245711				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding	g.chr2:29063092C>T	AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"""Speedy homologs"""	30613	protein-coding gene	gene with protein product		614029	"""speedy homolog 1 (Drosophila)"", ""speedy homolog A (Xenopus laevis)"""	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.607C>T	2.37:g.29063092C>T	ENSP00000335628:p.His203Tyr					SPDYA_ENST00000379579.4_Missense_Mutation_p.H203Y|SPDYA_ENST00000462832.1_3'UTR	p.H203Y	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN			7	796	+	Acute lymphoblastic leukemia(172;0.155)		203						Missense_Mutation	SNP	ENST00000334056.5	37	c.607C>T	CCDS1767.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404080	0.83230	.	.	ENSG00000163806	ENST00000379579;ENST00000334056	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	U	0.000001	T	0.80042	0.4551	M	0.72118	2.19	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80783	-0.1228	9	0.87932	D	0	-18.6128	20.0585	0.97663	0.0:1.0:0.0:0.0	.	203;203	Q5MJ70;Q5MJ70-1	SPDYA_HUMAN;.	Y	203	.	ENSP00000335628:H203Y	H	+	1	0	SPDYA	28916596	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.631000	0.67812	2.812000	0.96745	0.557000	0.71058	CAC		0.398	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157171.1	NM_182756		5	37	0	0	0	0.014758	0	5	37				
DMTN	2039	broad.mit.edu	37	8	21926531	21926531	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr8:21926531C>T	ENST00000523266.1	+	5	716	c.254C>T	c.(253-255)tCg>tTg	p.S85L	DMTN_ENST00000519907.1_Missense_Mutation_p.S85L|DMTN_ENST00000432128.1_Missense_Mutation_p.S85L|DMTN_ENST00000381470.3_Missense_Mutation_p.S85L|DMTN_ENST00000265800.5_Missense_Mutation_p.S85L|DMTN_ENST00000358242.3_Missense_Mutation_p.S85L|DMTN_ENST00000415253.1_Missense_Mutation_p.S85L|DMTN_ENST00000523782.2_Missense_Mutation_p.S60L|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000443491.2_Missense_Mutation_p.S60L	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	85					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										TCACAGCGCTCGCTGTCACCC	0.617																																						ENST00000358242.3																			0											c.(253-255)tCg>tTg		dematin actin binding protein							139.0	122.0	128.0					8																	21926531		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21926531C>T	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.254C>T	8.37:g.21926531C>T	ENSP00000427866:p.Ser85Leu					DMTN_ENST00000519907.1_Missense_Mutation_p.S85L|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000432128.1_Missense_Mutation_p.S85L|DMTN_ENST00000265800.5_Missense_Mutation_p.S85L|DMTN_ENST00000443491.2_Missense_Mutation_p.S60L|DMTN_ENST00000523782.2_Missense_Mutation_p.S60L|DMTN_ENST00000381470.3_Missense_Mutation_p.S85L|DMTN_ENST00000415253.1_Missense_Mutation_p.S85L|DMTN_ENST00000523266.1_Missense_Mutation_p.S85L	p.S85L							5	747	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.254C>T	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526367	0.64860	.	.	ENSG00000158856	ENST00000522148;ENST00000523300;ENST00000519850;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.49;1.26;1.26;1.26;1.26;1.49;1.49;1.49;1.26;1.49;1.26;1.26;1.26;1.26	4.72	4.72	0.59763	.	0.256767	0.32802	N	0.005625	T	0.53997	0.1831	L	0.49778	1.585	0.58432	D	0.999996	B;B;B;B;D	0.71674	0.255;0.066;0.046;0.445;0.998	B;B;B;B;D	0.75484	0.024;0.006;0.008;0.03;0.986	T	0.56685	-0.7938	10	0.87932	D	0	.	15.2389	0.73452	0.0:1.0:0.0:0.0	.	24;85;60;60;85	E9PD40;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;DEMA_HUMAN;.;.;.	L	60;60;85;85;85;60;60;60;85;85;24;85;85;85;85;85	ENSP00000428063:S60L;ENSP00000429116:S60L;ENSP00000430600:S85L;ENSP00000370879:S85L;ENSP00000416111:S85L;ENSP00000397904:S60L;ENSP00000428733:S60L;ENSP00000430382:S60L;ENSP00000428415:S85L;ENSP00000265800:S85L;ENSP00000429948:S85L;ENSP00000350977:S85L;ENSP00000401291:S85L;ENSP00000427866:S85L;ENSP00000429377:S85L	ENSP00000265800:S85L	S	+	2	0	EPB49	21982477	1.000000	0.71417	0.956000	0.39512	0.969000	0.65631	5.916000	0.69981	2.461000	0.83175	0.655000	0.94253	TCG		0.617	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		37	120	0	0	0	0.013114	0	37	120				
CLDN6	9074	broad.mit.edu	37	16	3065427	3065427	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:3065427C>T	ENST00000396925.1	-	3	1024	c.596G>A	c.(595-597)cGc>cAc	p.R199H	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.R199H			P56747	CLD6_HUMAN	claudin 6	199					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGTTGAGTAGCGGGCCATGTA	0.652																																						ENST00000396925.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(595-597)cGc>cAc		claudin 6							44.0	51.0	48.0					16																	3065427		2198	4300	6498	SO:0001583	missense	9074				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3065427C>T	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.596G>A	16.37:g.3065427C>T	ENSP00000380131:p.Arg199His					CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.R199H	p.R199H			P56747	CLD6_HUMAN			3	1024	-			199					B3KQP9|D3DUA5	Missense_Mutation	SNP	ENST00000396925.1	37	c.596G>A	CCDS10488.1	.	.	.	.	.	.	.	.	.	.	C	7.394	0.631414	0.14322	.	.	ENSG00000184697	ENST00000396925;ENST00000328796	D;D	0.84730	-1.89;-1.89	4.77	1.69	0.24217	.	0.408988	0.23375	N	0.048872	T	0.66655	0.2811	N	0.08118	0	0.25098	N	0.990805	B	0.09022	0.002	B	0.04013	0.001	T	0.56703	-0.7935	10	0.48119	T	0.1	.	5.8754	0.18826	0.1535:0.6759:0.0:0.1706	.	199	P56747	CLD6_HUMAN	H	199	ENSP00000380131:R199H;ENSP00000328674:R199H	ENSP00000328674:R199H	R	-	2	0	CLDN6	3005428	0.030000	0.19436	0.955000	0.39395	0.438000	0.31896	0.158000	0.16422	0.311000	0.23014	0.561000	0.74099	CGC		0.652	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		28	88	0	0	0	0.037714	0	28	88				
KPNA1	3836	broad.mit.edu	37	3	122145978	122145978	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:122145978C>T	ENST00000344337.6	-	14	1647	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	RP11-299J3.8_ENST00000608756.1_RNA|KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	491					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TGGTAGATCTCCTGGTTTTCA	0.378																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(1471-1473)Gag>Aag		karyopherin alpha 1 (importin alpha 5)							124.0	112.0	116.0					3																	122145978		2203	4300	6503	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122145978C>T	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.1471G>A	3.37:g.122145978C>T	ENSP00000343701:p.Glu491Lys					KPNA1_ENST00000466923.1_5'UTR	p.E491K	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	14	1647	-			491					D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.1471G>A	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582247	0.65992	.	.	ENSG00000114030	ENST00000344337	T	0.35236	1.32	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.045845	0.85682	D	0.000000	T	0.45418	0.1341	M	0.73430	2.235	0.80722	D	1	P	0.40107	0.703	B	0.40982	0.345	T	0.42616	-0.9441	10	0.41790	T	0.15	-7.7822	18.414	0.90562	0.0:1.0:0.0:0.0	.	491	P52294	IMA1_HUMAN	K	491	ENSP00000343701:E491K	ENSP00000343701:E491K	E	-	1	0	KPNA1	123628668	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.320000	0.79064	2.827000	0.97445	0.650000	0.86243	GAG		0.378	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		16	55	0	0	0	0.007413	0	16	55				
KCNV2	169522	broad.mit.edu	37	9	2718867	2718867	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:2718867G>A	ENST00000382082.3	+	1	1366	c.1128G>A	c.(1126-1128)ttG>ttA	p.L376L		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	376					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTCAGGTGTTGCGCGTCATGC	0.667																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(1126-1128)ttG>ttA		potassium channel, subfamily V, member 2							97.0	77.0	84.0					9																	2718867		2203	4300	6503	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718867G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1128G>A	9.37:g.2718867G>A							p.L376L	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1366	+			376					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.1128G>A	CCDS6447.1																																																																																				0.667	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		41	63	0	0	0	0.025465	0	41	63				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	108	0	0	0	0.014758	0	3	108				
RIC1	57589	broad.mit.edu	37	9	5757374	5757374	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:5757374C>T	ENST00000414202.2	+	17	2106	c.1915C>T	c.(1915-1917)Cac>Tac	p.H639Y	KIAA1432_ENST00000449720.2_Missense_Mutation_p.H523Y|KIAA1432_ENST00000418622.3_Missense_Mutation_p.H560Y|KIAA1432_ENST00000251879.6_Missense_Mutation_p.H639Y|KIAA1432_ENST00000381532.2_Missense_Mutation_p.H560Y	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTACATTCCTCACCCTTTCCT	0.428																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(1915-1917)Cac>Tac		KIAA1432							293.0	263.0	273.0					9																	5757374		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5757374C>T																												ENST00000414202.2:c.1915C>T	9.37:g.5757374C>T	ENSP00000416696:p.His639Tyr					KIAA1432_ENST00000381532.2_Missense_Mutation_p.H560Y|KIAA1432_ENST00000418622.3_Missense_Mutation_p.H560Y|KIAA1432_ENST00000449720.2_Missense_Mutation_p.H523Y|KIAA1432_ENST00000251879.6_Missense_Mutation_p.H639Y	p.H639Y	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	17	2106	+		Acute lymphoblastic leukemia(23;0.154)	639						Missense_Mutation	SNP	ENST00000414202.2	37	c.1915C>T	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.44|19.44	3.827402|3.827402	0.71143|0.71143	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72061|0.72061	0.3414|0.3414	L|L	0.52266|0.52266	1.64|1.64	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.46784|.	0.615;0.816;0.849;0.884|.	B;B;B;B|.	0.43155|.	0.1;0.232;0.296;0.41|.	T|T	0.65825|0.65825	-0.6074|-0.6074	9|5	0.18710|.	T|.	0.47|.	-18.035|-18.035	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	523;560;639;639|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	Y|L	639;639;560;560;523|530	.|.	ENSP00000251879:H639Y|.	H|S	+|+	1|2	0|0	KIAA1432|KIAA1432	5747374|5747374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.420000|7.420000	0.80191|0.80191	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.428	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			27	201	0	0	0	0.030593	0	27	201				
CDK5	1020	broad.mit.edu	37	7	150753685	150753685	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:150753685G>A	ENST00000485972.1	-	5	975	c.294C>T	c.(292-294)ctC>ctT	p.L98L	SLC4A2_ENST00000413384.2_5'Flank|CDK5_ENST00000297518.4_Silent_p.L98L|SLC4A2_ENST00000485713.1_5'Flank	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TCTCAGGATCGAGGTCACCAT	0.517																																						ENST00000485972.1																			0				central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(292-294)ctC>ctT		cyclin-dependent kinase 5							75.0	75.0	75.0					7																	150753685		1922	4138	6060	SO:0001819	synonymous_variant	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150753685G>A	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"""Cyclin-dependent kinases"""	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.294C>T	7.37:g.150753685G>A						CDK5_ENST00000297518.4_Silent_p.L98L	p.L98L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	5	975	-		Breast(660;0.159)|Ovarian(593;0.182)	98			Protein kinase.		A1XKG3	Silent	SNP	ENST00000485972.1	37	c.294C>T	CCDS47748.1																																																																																				0.517	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			13	27	0	0	0	0.024245	0	13	27				
POU5F1	5460	broad.mit.edu	37	6	31133468	31133468	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:31133468G>A	ENST00000259915.8	-	3	609	c.537C>T	c.(535-537)ttC>ttT	p.F179F	POU5F1_ENST00000471529.2_5'UTR|POU5F1_ENST00000512818.1_5'UTR|POU5F1_ENST00000606567.1_Silent_p.F9F|POU5F1_ENST00000441888.3_5'UTR|POU5F1_ENST00000513407.1_5'UTR	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	179	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	TCGTTTGGCTGAATACCTTCC	0.557			T	EWSR1	sarcoma																																	ENST00000259915.8				Dom	yes		6	6p21.31	5460	T	"""POU domain, class 5, transcription factor 1"""			M	EWSR1		sarcoma	EWSR1/POU5F1(10)	0				breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						c.(535-537)ttC>ttT		POU class 5 homeobox 1							22.0	24.0	23.0					6																	31133468		1511	2709	4220	SO:0001819	synonymous_variant	5460				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr6:31133468G>A	Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"""Homeoboxes / POU class"""	9221	protein-coding gene	gene with protein product		164177	"""POU domain class 5, transcription factor 1"""	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.537C>T	6.37:g.31133468G>A						POU5F1_ENST00000606567.1_Silent_p.F9F|POU5F1_ENST00000513407.1_5'UTR|POU5F1_ENST00000512818.1_5'UTR|POU5F1_ENST00000441888.3_5'UTR|POU5F1_ENST00000471529.2_5'UTR	p.F179F	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN			3	609	-			179			POU-specific.		A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Silent	SNP	ENST00000259915.8	37	c.537C>T	CCDS34391.1																																																																																				0.557	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076413.4	NM_002701		4	25	0	0	0	0.009096	0	4	25				
WWC1	23286	broad.mit.edu	37	5	167887657	167887657	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:167887657G>A	ENST00000265293.4	+	20	3328	c.2826G>A	c.(2824-2826)ctG>ctA	p.L942L	WWC1_ENST00000521089.1_Silent_p.L942L|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	942	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCTTGCAGCTGAATCGGAGTG	0.517																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2824-2826)ctG>ctA		WW and C2 domain containing 1							96.0	95.0	95.0					5																	167887657		2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167887657G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2826G>A	5.37:g.167887657G>A						WWC1_ENST00000521089.1_Silent_p.L942L|WWC1_ENST00000522140.1_3'UTR	p.L942L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	20	3328	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	942			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.2826G>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006243	0.35415	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.83	4.04	0.47022	.	.	.	.	.	T	0.58793	0.2147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54214	-0.8327	4	.	.	.	.	8.5137	0.33233	0.1335:0.0:0.7412:0.1253	.	.	.	.	K	904;719	.	.	E	+	1	0	WWC1	167820235	0.968000	0.33430	0.998000	0.56505	0.990000	0.78478	0.084000	0.14891	0.785000	0.33685	0.650000	0.86243	GAA		0.517	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		16	37	0	0	0	0.007413	0	16	37				
ZNF556	80032	broad.mit.edu	37	19	2877814	2877814	+	Silent	SNP	G	G	A	rs377206346		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:2877814G>A	ENST00000307635.2	+	4	945	c.858G>A	c.(856-858)ccG>ccA	p.P286P	ZNF556_ENST00000586426.1_Silent_p.P285P	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGAGACCGTATGAGTGCA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		21210	0.001		0.0	False		,,,				2504	0.0					ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(853-855)ccG>ccA		zinc finger protein 556		G		0,4406		0,0,2203	61.0	55.0	57.0		858	-4.3	0.0	19		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF556	NM_024967.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		286/457	2877814	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877814G>A	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.858G>A	19.37:g.2877814G>A						ZNF556_ENST00000307635.2_Silent_p.P286P	p.P285P			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	942	+			286					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.855G>A	CCDS12097.1																																																																																				0.517	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		13	52	0	0	0	0.013537	0	13	52				
EZR	7430	broad.mit.edu	37	6	159206498	159206498	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159206498G>A	ENST00000367075.3	-	5	478	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	EZR_ENST00000476189.1_5'UTR|EZR_ENST00000337147.7_Missense_Mutation_p.L104F|EZR_ENST00000392177.4_Missense_Mutation_p.L72F	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	104	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCACTTGGAGGAAGAAAAGT	0.542			T	ROS1	NSCLC																																	ENST00000367075.3				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(310-312)Ctc>Ttc		ezrin							103.0	83.0	90.0					6																	159206498		2203	4300	6503	SO:0001583	missense	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159206498G>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.310C>T	6.37:g.159206498G>A	ENSP00000356042:p.Leu104Phe					EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Missense_Mutation_p.L72F|EZR_ENST00000337147.7_Missense_Mutation_p.L104F	p.L104F	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	5	478	-		Breast(66;0.000776)|Ovarian(120;0.0303)	104			FERM.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	c.310C>T	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183724	0.78677	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	T;T;T	0.79845	-1.31;-1.31;-1.31	4.34	4.34	0.51931	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.144727	0.48767	D	0.000173	D	0.93697	0.7986	H	0.99249	4.485	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.73708	0.966;0.981	D	0.96493	0.9365	10	0.87932	D	0	.	17.0524	0.86523	0.0:0.0:1.0:0.0	.	72;104	E7EQR4;P15311	.;EZRI_HUMAN	F	104;104;72	ENSP00000338934:L104F;ENSP00000356042:L104F;ENSP00000376016:L72F	ENSP00000338934:L104F	L	-	1	0	EZR	159126486	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.260000	0.72502	2.248000	0.74166	0.650000	0.86243	CTC		0.542	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		30	94	0	0	0	0.037714	0	30	94				
ENOX2	10495	broad.mit.edu	37	X	129799694	129799694	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chrX:129799694C>T	ENST00000370927.1	-	7	1045	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	ENOX2_ENST00000394363.1_Missense_Mutation_p.A313T|ENOX2_ENST00000338144.3_Missense_Mutation_p.A342T|ENOX2_ENST00000370935.1_Missense_Mutation_p.A313T			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	342					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TGCTTGGAGGCGGAATGGTAC	0.488																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1024-1026)Gcc>Acc		ecto-NOX disulfide-thiol exchanger 2							83.0	54.0	64.0					X																	129799694		2203	4299	6502	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129799694C>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1024G>A	X.37:g.129799694C>T	ENSP00000359965:p.Ala342Thr					ENOX2_ENST00000394363.1_Missense_Mutation_p.A313T|ENOX2_ENST00000370927.1_Missense_Mutation_p.A342T|ENOX2_ENST00000370935.1_Missense_Mutation_p.A313T	p.A342T	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			10	1441	-			342					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1024G>A	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463652	0.63513	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T	0.29142	1.58;1.58	5.32	5.32	0.75619	.	0.185241	0.46145	D	0.000307	T	0.24275	0.0588	L	0.29908	0.895	0.40529	D	0.980915	P;P	0.51449	0.945;0.945	P;P	0.44561	0.453;0.453	T	0.01935	-1.1244	9	.	.	.	-8.2313	10.2421	0.43319	0.1968:0.8032:0.0:0.0	.	342;370	Q16206;A4QPE1	ENOX2_HUMAN;.	T	313;313;342;313;370;342;313	ENSP00000337146:A342T;ENSP00000359965:A342T	.	A	-	1	0	ENOX2	129627375	0.985000	0.35326	0.958000	0.39756	0.959000	0.62525	2.646000	0.46630	2.467000	0.83353	0.594000	0.82650	GCC		0.488	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		4	16	0	0	0	0.009096	0	4	16				
RAB32	10981	broad.mit.edu	37	6	146875728	146875728	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:146875728C>T	ENST00000367495.3	+	3	844	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	222					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GAGAACAAATCCCAGTGTTGC	0.428																																						ENST00000367495.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(664-666)tCc>tTc		RAB32, member RAS oncogene family							126.0	127.0	126.0					6																	146875728		2203	4300	6503	SO:0001583	missense	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146875728C>T	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.665C>T	6.37:g.146875728C>T	ENSP00000356465:p.Ser222Phe						p.S222F	NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	3	844	+		Ovarian(120;0.142)	222						Missense_Mutation	SNP	ENST00000367495.3	37	c.665C>T	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332102	0.41297	.	.	ENSG00000118508	ENST00000367495	T	0.72725	-0.68	5.79	5.79	0.91817	.	0.278885	0.42294	D	0.000726	T	0.42200	0.1192	N	0.19112	0.55	0.49389	D	0.999785	B	0.15719	0.014	B	0.18263	0.021	T	0.47289	-0.9129	10	0.59425	D	0.04	-8.703	10.4324	0.44415	0.0:0.8562:0.0:0.1438	.	222	Q13637	RAB32_HUMAN	F	222	ENSP00000356465:S222F	ENSP00000356465:S222F	S	+	2	0	RAB32	146917421	1.000000	0.71417	0.917000	0.36280	0.995000	0.86356	4.412000	0.59787	2.722000	0.93159	0.655000	0.94253	TCC		0.428	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		10	162	0	0	0	0.008291	0	10	162				
POLB	5423	broad.mit.edu	37	8	42196191	42196191	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr8:42196191G>A	ENST00000265421.4	+	1	219	c.49G>A	c.(49-51)Gac>Aac	p.D17N	POLB_ENST00000538005.1_5'UTR|POLB_ENST00000530566.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	17					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	GGGAATCACCGACATGCTCAC	0.622								DNA polymerases (catalytic subunits)																														ENST00000265421.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16						c.(49-51)Gac>Aac	DNA polymerases (catalytic subunits)	polymerase (DNA directed), beta	Cytarabine(DB00987)						68.0	77.0	74.0					8																	42196191		2203	4300	6503	SO:0001583	missense	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42196191G>A		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.49G>A	8.37:g.42196191G>A	ENSP00000265421:p.Asp17Asn					POLB_ENST00000538005.1_5'UTR|POLB_ENST00000530566.1_Intron	p.D17N	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		1	219	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	17					B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	c.49G>A	CCDS6129.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458277	0.84317	.	.	ENSG00000070501	ENST00000265421;ENST00000518925	T;T	0.46063	0.88;0.88	4.53	3.65	0.41850	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	M	0.75447	2.3	0.80722	D	1	D;D	0.57571	0.972;0.98	B;B	0.41619	0.298;0.361	T	0.48364	-0.9042	10	0.87932	D	0	-0.5011	8.7892	0.34841	0.1043:0.0:0.8957:0.0	.	17;17	Q53EV2;P06746	.;DPOLB_HUMAN	N	17	ENSP00000265421:D17N;ENSP00000430784:D17N	ENSP00000265421:D17N	D	+	1	0	POLB	42315348	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.324000	0.72896	1.264000	0.44198	0.460000	0.39030	GAC		0.622	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		11	128	0	0	0	0.008291	0	11	128				
DENND6B	414918	broad.mit.edu	37	22	50752658	50752658	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr22:50752658C>T	ENST00000413817.3	-	13	1187	c.1116G>A	c.(1114-1116)ttG>ttA	p.L372L	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	372					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										CCAGGGTCTTCAACCTTGAAG	0.642																																						ENST00000413817.2																			0											c.(1114-1116)ttG>ttA		DENN/MADD domain containing 6B							40.0	46.0	44.0					22																	50752658		1952	4129	6081	SO:0001819	synonymous_variant	414918							g.chr22:50752658C>T	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1116G>A	22.37:g.50752658C>T							p.L372L	NM_001001794.3	NP_001001794.3					13	1187	-								A6X8I5	Silent	SNP	ENST00000413817.3	37	c.1116G>A	CCDS46732.1																																																																																				0.642	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		6	27	0	0	0	0.021553	0	6	27				
GLT6D1	360203	broad.mit.edu	37	9	138516117	138516117	+	Silent	SNP	C	C	T	rs201383603		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:138516117C>T	ENST00000371763.1	-	5	910	c.657G>A	c.(655-657)ccG>ccA	p.P219P		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	219			P -> S (in dbSNP:rs17040344). {ECO:0000269|PubMed:19218399}.		carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.P219P(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCTGTCCAAACGGGATGCAAG	0.493													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20088	0.0		0.0	False		,,,				2504	0.0					ENST00000371763.1																			1	Substitution - coding silent(1)	p.P219P(1)	endometrium(1)	endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(655-657)ccG>ccA		glycosyltransferase 6 domain containing 1							105.0	104.0	104.0					9																	138516117		1915	4127	6042	SO:0001819	synonymous_variant	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516117C>T	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.657G>A	9.37:g.138516117C>T							p.P219P	NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	5	910	-		Myeloproliferative disorder(178;0.0821)	219		P -> S (in dbSNP:rs17040344).				Silent	SNP	ENST00000371763.1	37	c.657G>A	CCDS43900.1																																																																																				0.493	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		5	135	0	0	0	0.021553	0	5	135				
MBD1	4152	broad.mit.edu	37	18	47803212	47803212	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:47803212G>A	ENST00000591416.1	-	4	813	c.382C>T	c.(382-384)Cct>Tct	p.P128S	MBD1_ENST00000436910.1_Missense_Mutation_p.P128S|MBD1_ENST00000457839.2_Missense_Mutation_p.P128S|MBD1_ENST00000398493.1_Missense_Mutation_p.P128S|MBD1_ENST00000269471.5_Missense_Mutation_p.P128S|MBD1_ENST00000585595.1_Missense_Mutation_p.P128S|MBD1_ENST00000398495.2_Missense_Mutation_p.P128S|MBD1_ENST00000590208.1_Missense_Mutation_p.P128S|MBD1_ENST00000347968.3_Missense_Mutation_p.P128S|MBD1_ENST00000585672.1_Missense_Mutation_p.P128S|MBD1_ENST00000398488.1_Missense_Mutation_p.P128S|MBD1_ENST00000591535.1_Missense_Mutation_p.P128S|MBD1_ENST00000424334.2_Missense_Mutation_p.P154S|MBD1_ENST00000349085.2_Missense_Mutation_p.P128S|MBD1_ENST00000339998.6_Missense_Mutation_p.P128S|MBD1_ENST00000353909.3_Missense_Mutation_p.P128S|MBD1_ENST00000269468.5_Missense_Mutation_p.P128S|MBD1_ENST00000587605.1_Missense_Mutation_p.P128S|MBD1_ENST00000382948.5_Missense_Mutation_p.P128S|MBD1_ENST00000588937.1_Missense_Mutation_p.P128S			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	128					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCAGGAGCAGGGAATGAAGCT	0.602																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(382-384)Cct>Tct		methyl-CpG binding domain protein 1							182.0	169.0	173.0					18																	47803212		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47803212G>A	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.382C>T	18.37:g.47803212G>A	ENSP00000467017:p.Pro128Ser					MBD1_ENST00000587605.1_Missense_Mutation_p.P128S|MBD1_ENST00000339998.6_Missense_Mutation_p.P128S|MBD1_ENST00000588937.1_Missense_Mutation_p.P128S|MBD1_ENST00000382948.5_Missense_Mutation_p.P128S|MBD1_ENST00000269471.5_Missense_Mutation_p.P128S|MBD1_ENST00000353909.3_Missense_Mutation_p.P128S|MBD1_ENST00000398488.1_Missense_Mutation_p.P128S|MBD1_ENST00000398495.2_Missense_Mutation_p.P128S|MBD1_ENST00000347968.3_Missense_Mutation_p.P128S|MBD1_ENST00000436910.1_Missense_Mutation_p.P128S|MBD1_ENST00000585672.1_Missense_Mutation_p.P128S|MBD1_ENST00000269468.5_Missense_Mutation_p.P128S|MBD1_ENST00000424334.2_Missense_Mutation_p.P154S|MBD1_ENST00000398493.1_Missense_Mutation_p.P128S|MBD1_ENST00000585595.1_Missense_Mutation_p.P128S|MBD1_ENST00000590208.1_Missense_Mutation_p.P128S|MBD1_ENST00000349085.2_Missense_Mutation_p.P128S|MBD1_ENST00000457839.2_Missense_Mutation_p.P128S|MBD1_ENST00000591535.1_Missense_Mutation_p.P128S	p.P128S			Q9UIS9	MBD1_HUMAN			4	813	-			128					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.382C>T	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053790	0.36277	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95377	-3.69;-3.61;-3.64;-3.69;-3.65;-3.64;-3.66;-3.67;-3.67;-3.63;-3.66;-3.65;-3.64	4.42	4.42	0.53409	.	0.199524	0.36034	N	0.002835	D	0.93959	0.8066	N	0.17082	0.46	0.27315	N	0.957201	P;D;B;B;B;D;B;D;B;D;B	0.89917	0.937;0.998;0.259;0.059;0.36;0.962;0.346;1.0;0.059;0.985;0.044	B;D;B;B;B;P;B;D;B;P;B	0.87578	0.304;0.993;0.099;0.059;0.161;0.741;0.204;0.998;0.059;0.888;0.026	D	0.85517	0.1201	10	0.11794	T	0.64	-3.5405	12.8319	0.57750	0.0:0.0:1.0:0.0	.	128;154;128;128;128;128;128;128;128;128;128	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.	S	128;128;128;128;128;128;128;154;128;128;128;128;128	ENSP00000372407:P128S;ENSP00000269469:P128S;ENSP00000342531:P128S;ENSP00000269468:P128S;ENSP00000285102:P128S;ENSP00000409561:P128S;ENSP00000269471:P128S;ENSP00000408846:P154S;ENSP00000339546:P128S;ENSP00000381508:P128S;ENSP00000405268:P128S;ENSP00000381506:P128S;ENSP00000381502:P128S	ENSP00000269468:P128S	P	-	1	0	MBD1	46057210	0.953000	0.32496	0.963000	0.40424	0.339000	0.28857	1.812000	0.38952	2.735000	0.93741	0.655000	0.94253	CCT		0.602	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		70	192	0	0	0	0.014410	0	70	192				
EHBP1	23301	broad.mit.edu	37	2	63091877	63091877	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:63091877G>A	ENST00000263991.5	+	10	1356	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	EHBP1_ENST00000431489.1_Missense_Mutation_p.E257K|EHBP1_ENST00000405015.3_Missense_Mutation_p.E257K|EHBP1_ENST00000405289.1_Missense_Mutation_p.E257K|EHBP1_ENST00000354487.3_Missense_Mutation_p.E257K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	292						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACCTATCACTGAAACAGCTTC	0.299																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(874-876)Gaa>Aaa		EH domain binding protein 1							55.0	61.0	59.0					2																	63091877		2190	4295	6485	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:63091877G>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.874G>A	2.37:g.63091877G>A	ENSP00000263991:p.Glu292Lys					EHBP1_ENST00000431489.1_Missense_Mutation_p.E257K|EHBP1_ENST00000405289.1_Missense_Mutation_p.E257K|EHBP1_ENST00000354487.3_Missense_Mutation_p.E257K|EHBP1_ENST00000405015.3_Missense_Mutation_p.E257K	p.E292K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		10	1356	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		292					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.874G>A	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712912	0.48517	.	.	ENSG00000115504	ENST00000405015;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T	0.74002	-0.8;0.91;-0.8;-0.79;-0.79;-0.79	5.54	5.54	0.83059	.	0.124682	0.56097	D	0.000031	T	0.70570	0.3239	L	0.56769	1.78	0.51767	D	0.999935	B;B;B	0.21606	0.027;0.004;0.058	B;B;B	0.18561	0.019;0.011;0.022	T	0.66396	-0.5934	10	0.41790	T	0.15	.	14.0777	0.64900	0.0725:0.0:0.9275:0.0	.	257;257;292	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	K	257;257;257;292;257;257	ENSP00000384143:E257K;ENSP00000384829:E257K;ENSP00000403783:E257K;ENSP00000263991:E292K;ENSP00000346482:E257K;ENSP00000385524:E257K	ENSP00000263991:E292K	E	+	1	0	EHBP1	62945381	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.412000	0.44609	2.765000	0.95021	0.557000	0.71058	GAA		0.299	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		13	67	0	0	0	0.016723	0	13	67				
HIST1H3E	8353	broad.mit.edu	37	6	26225757	26225757	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:26225757C>T	ENST00000360408.1	+	1	375	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	125					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CTAAAGACATCCAGCTTGCCC	0.542											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360408.1																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8						c.(373-375)atC>atT		histone cluster 1, H3e							85.0	88.0	87.0					6																	26225757		2203	4300	6503	SO:0001819	synonymous_variant	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225757C>T	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.375C>T	6.37:g.26225757C>T			OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785		p.I125I	NM_003532.2	NP_003523.1	P68431	H31_HUMAN			1	375	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	125					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000360408.1	37	c.375C>T	CCDS4596.1																																																																																				0.542	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		25	88	0	0	0	0.010818	0	25	88				
DPP3	10072	broad.mit.edu	37	11	66263137	66263137	+	Silent	SNP	G	G	A	rs113357584	byFrequency	TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:66263137G>A	ENST00000360510.2	+	15	1679	c.1614G>A	c.(1612-1614)gtG>gtA	p.V538V	DPP3_ENST00000530165.1_Silent_p.V508V|DPP3_ENST00000532677.1_Silent_p.V557V|DPP3_ENST00000453114.1_Silent_p.V538V|DPP3_ENST00000541961.1_Silent_p.V538V|DPP3_ENST00000531863.1_Silent_p.V558V			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	538					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CGGAGGACGTGATCTACGTGA	0.617																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1669-1671)gtG>gtA		dipeptidyl-peptidase 3							87.0	80.0	82.0					11																	66263137		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66263137G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1614G>A	11.37:g.66263137G>A						DPP3_ENST00000541961.1_Silent_p.V538V|DPP3_ENST00000530165.1_Silent_p.V508V|DPP3_ENST00000360510.2_Silent_p.V538V|DPP3_ENST00000531863.1_Silent_p.V558V|DPP3_ENST00000453114.1_Silent_p.V538V	p.V557V	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			15	2072	+			538					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.1671G>A	CCDS8141.1																																																																																				0.617	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			12	60	0	0	0	0.016723	0	12	60				
KANSL3	55683	broad.mit.edu	37	2	97270558	97270558	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:97270558G>A	ENST00000431828.1	-	16	2052	c.1976C>T	c.(1975-1977)tCa>tTa	p.S659L	KANSL3_ENST00000599854.1_Missense_Mutation_p.S572L|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.S479L			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	685					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGCCCCTGCTGAAGCCTGCCC	0.522																																						ENST00000599854.1																			0											c.(1714-1716)tCa>tTa		KAT8 regulatory NSL complex subunit 3							56.0	57.0	57.0					2																	97270558		1974	4174	6148	SO:0001583	missense	55683							g.chr2:97270558G>A	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1976C>T	2.37:g.97270558G>A	ENSP00000396749:p.Ser659Leu					KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.S479L|KANSL3_ENST00000431828.1_Missense_Mutation_p.S659L	p.S572L	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN			16	2182	-			685					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.1715C>T	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131064	0.56828	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	T;T	0.45668	0.91;0.89	5.92	5.92	0.95590	.	0.485335	0.22920	N	0.054025	T	0.27697	0.0681	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.19706	0.022;0.02;0.013;0.038;0.034	B;B;B;B;B	0.19391	0.004;0.024;0.025;0.006;0.025	T	0.06917	-1.0800	10	0.30854	T	0.27	.	17.8282	0.88672	0.0:0.0:1.0:0.0	.	453;685;659;570;545	B4E1W4;Q9P2N6;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;K1310_HUMAN;.;.;.	L	572;545;659;479;453	ENSP00000396749:S659L;ENSP00000406207:S479L	ENSP00000346144:S572L	S	-	2	0	KIAA1310	96634285	0.416000	0.25424	0.021000	0.16686	0.978000	0.69477	4.034000	0.57289	2.822000	0.97130	0.650000	0.86243	TCA		0.522	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		5	10	0	0	0	0.021553	0	5	10				
GLP2R	9340	broad.mit.edu	37	17	9760756	9760756	+	Missense_Mutation	SNP	C	C	T	rs575133662		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:9760756C>T	ENST00000262441.5	+	6	1141	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	GLP2R_ENST00000574745.1_Missense_Mutation_p.R30C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	210					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.R210C(2)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CCACTGCACGCGCAACTACAT	0.493													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20519	0.0		0.0	False		,,,				2504	0.0					ENST00000262441.5																			2	Substitution - Missense(2)	p.R210C(2)	ovary(1)|endometrium(1)	endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(628-630)Cgc>Tgc		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						186.0	154.0	165.0					17																	9760756		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9760756C>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.628C>T	17.37:g.9760756C>T	ENSP00000262441:p.Arg210Cys					GLP2R_ENST00000574745.1_Missense_Mutation_p.R30C	p.R210C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			6	1141	+			210					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.628C>T	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103897	0.37145	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.37058	1.22	5.28	5.28	0.74379	GPCR, family 2-like (1);	0.000000	0.40469	N	0.001095	T	0.70675	0.3251	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78940	-0.2006	10	0.87932	D	0	.	11.2655	0.49108	0.283:0.717:0.0:0.0	.	210	O95838	GLP2R_HUMAN	C	210;185;210	ENSP00000262441:R210C	ENSP00000262441:R210C	R	+	1	0	GLP2R	9701481	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.895000	0.63214	2.756000	0.94617	0.655000	0.94253	CGC		0.493	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			7	66	0	0	0	0.038147	0	7	66				
KRT18	3875	broad.mit.edu	37	12	53346038	53346038	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:53346038G>A	ENST00000388835.3	+	6	1294	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.E362K|KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_Missense_Mutation_p.E362K	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	362	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CCAGGCCCAGGAGTATGAGGC	0.627																																						ENST00000550600.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(1084-1086)Gag>Aag		keratin 18							15.0	17.0	16.0					12																	53346038		2201	4297	6498	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53346038G>A		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.1084G>A	12.37:g.53346038G>A	ENSP00000373487:p.Glu362Lys					KRT18_ENST00000388837.2_Missense_Mutation_p.E362K|KRT18_ENST00000388835.3_Missense_Mutation_p.E362K	p.E362K			P05783	K1C18_HUMAN			7	1138	+			362			Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.1084G>A	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.266997	0.80469	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.93712	-3.27;-3.27;-3.27	4.0	4.0	0.46444	Filament (1);	0.000000	0.56097	D	0.000030	D	0.95118	0.8418	M	0.93016	3.37	0.80722	D	1	B;P	0.35944	0.245;0.529	B;B	0.40477	0.222;0.33	D	0.96150	0.9107	10	0.72032	D	0.01	.	14.3934	0.66996	0.0:0.0:1.0:0.0	.	362;362	F8VZY9;P05783	.;K1C18_HUMAN	K	362	ENSP00000373489:E362K;ENSP00000447278:E362K;ENSP00000373487:E362K	ENSP00000373487:E362K	E	+	1	0	KRT18	51632305	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.689000	0.84165	2.535000	0.85469	0.561000	0.74099	GAG		0.627	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		4	12	0	0	0	0.009096	0	4	12				
RAD51B	5890	broad.mit.edu	37	14	68758606	68758606	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:68758606C>T	ENST00000487270.1	+	8	810	c.762C>T	c.(760-762)atC>atT	p.I254I	RAD51B_ENST00000487861.1_Silent_p.I254I|RAD51B_ENST00000488612.1_Silent_p.I254I|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000471583.1_Silent_p.I254I|RAD51B_ENST00000390683.3_Silent_p.I254I	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	254					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						CACAGGTTATCTTGACGAATC	0.478								Direct reversal of damage																														ENST00000487270.1																		HMGA2/RAD51B(11)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(760-762)atC>atT	Direct reversal of damage	RAD51 paralog B							114.0	110.0	111.0					14																	68758606		2203	4300	6503	SO:0001819	synonymous_variant	5890				blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:68758606C>T	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.762C>T	14.37:g.68758606C>T						RAD51B_ENST00000390683.3_Silent_p.I254I|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000487861.1_Silent_p.I254I|RAD51B_ENST00000488612.1_Silent_p.I254I|RAD51B_ENST00000471583.1_Silent_p.I254I	p.I254I	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN			8	810	+			254					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Silent	SNP	ENST00000487270.1	37	c.762C>T	CCDS9789.1																																																																																				0.478	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			30	74	0	0	0	0.037714	0	30	74				
EED	8726	broad.mit.edu	37	11	85956375	85956375	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:85956375G>A	ENST00000263360.6	+	1	790	c.104G>A	c.(103-105)gGa>gAa	p.G35E	EED_ENST00000528180.1_Missense_Mutation_p.G35E|EED_ENST00000327320.4_Missense_Mutation_p.G35E|EED_ENST00000351625.6_Missense_Mutation_p.G35E	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	35					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GACCTCTCTGGAGACGAGAAT	0.562																																						ENST00000263360.6																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(103-105)gGa>gAa		embryonic ectoderm development							55.0	45.0	48.0					11																	85956375		2203	4299	6502	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85956375G>A	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.104G>A	11.37:g.85956375G>A	ENSP00000263360:p.Gly35Glu					EED_ENST00000528180.1_Missense_Mutation_p.G35E|EED_ENST00000351625.6_Missense_Mutation_p.G35E|EED_ENST00000327320.4_Missense_Mutation_p.G35E	p.G35E	NM_003797.3	NP_003788.2	O75530	EED_HUMAN			1	790	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	35					A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.104G>A	CCDS8273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.949040|3.949040	0.73787|0.73787	.|.	.|.	ENSG00000074266|ENSG00000074266	ENST00000534595|ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000537092	.|T;T;T;T	.|0.79940	.|-0.82;-1.32;-0.73;-0.75	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80417|0.80417	0.4619|0.4619	N|N	0.10874|0.10874	0.06|0.06	0.80722|0.80722	D|D	1|1	.|B;D;B;B	.|0.89917	.|0.02;1.0;0.2;0.012	.|B;D;B;B	.|0.83275	.|0.013;0.996;0.034;0.006	T|T	0.79967|0.79967	-0.1580|-0.1580	5|9	.|.	.|.	.|.	-10.1422|-10.1422	18.2509|18.2509	0.90002|0.90002	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|35;35;35;35	.|O75530-3;E9PJK2;O75530-2;O75530	.|.;.;.;EED_HUMAN	K|E	34|35	.|ENSP00000263360:G35E;ENSP00000431778:G35E;ENSP00000338186:G35E;ENSP00000315587:G35E	.|.	E|G	+|+	1|2	0|0	EED|EED	85634023|85634023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.830000|8.830000	0.92063|0.92063	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.562	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		16	35	0	0	0	0.028581	0	16	35				
PTPRZ1	5803	broad.mit.edu	37	7	121636594	121636594	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:121636594T>G	ENST00000393386.2	+	9	1498	c.1087T>G	c.(1087-1089)Ttt>Gtt	p.F363V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.F363V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	363	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAAGCATGAATTTTTGACAGA	0.363																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(1087-1089)Ttt>Gtt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							162.0	157.0	159.0					7																	121636594		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121636594T>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1087T>G	7.37:g.121636594T>G	ENSP00000377047:p.Phe363Val					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.F363V	p.F363V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			9	1498	+			363			Fibronectin type-III.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1087T>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.186430	0.57909	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.56941	0.43;0.43	5.74	4.56	0.56223	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.165528	0.43416	N	0.000574	T	0.40119	0.1104	N	0.19112	0.55	0.31041	N	0.716287	B;B	0.21688	0.012;0.059	B;B	0.25614	0.018;0.062	T	0.47100	-0.9143	10	0.87932	D	0	.	12.9366	0.58319	0.0:0.0:0.1354:0.8646	.	363;363	C9JFM0;P23471	.;PTPRZ_HUMAN	V	363	ENSP00000377047:F363V;ENSP00000410000:F363V	ENSP00000377047:F363V	F	+	1	0	PTPRZ1	121423830	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	4.553000	0.60753	0.963000	0.38082	0.533000	0.62120	TTT		0.363	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		31	139	0	0	0	0.021022	0	31	139				
DYNLT1	6993	broad.mit.edu	37	6	159058168	159058168	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159058168G>A	ENST00000367089.3	-	4	293	c.263C>T	c.(262-264)tCt>tTt	p.S88F	DYNLT1_ENST00000367088.1_Missense_Mutation_p.S19F	NM_006519.2	NP_006510.1	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	88	Interaction with GNB1. {ECO:0000250}.				establishment of mitotic spindle orientation (GO:0000132)|intracellular transport of viral protein in host cell (GO:0019060)|microtubule-dependent intracellular transport of viral material towards nucleus (GO:0075521)|mitotic nuclear division (GO:0007067)|negative regulation of neurogenesis (GO:0050768)|neuron projection morphogenesis (GO:0048812)|regulation of cytoskeleton organization (GO:0051493)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of Rac GTPase activity (GO:0032314)|viral entry into host cell (GO:0046718)	cytoplasmic dynein complex (GO:0005868)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)	identical protein binding (GO:0042802)|motor activity (GO:0003774)			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		ACCGTCAGTAGAGCTGTCCCA	0.363																																						ENST00000367088.1																			0				lung(2)	2						c.(55-57)tCt>tTt		dynein, light chain, Tctex-type 1							71.0	67.0	69.0					6																	159058168		2203	4300	6503	SO:0001583	missense	6993				cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity	g.chr6:159058168G>A	D50663	CCDS5257.1	6q25.2-q25.3	2008-02-05	2005-11-24	2005-11-24	ENSG00000146425	ENSG00000146425		"""Cytoplasmic dyneins"""	11697	protein-coding gene	gene with protein product		601554	"""t-complex-associated-testis-expressed 1-like 1"""	TCTEL1		8646886, 16260502	Standard	XM_005267117		Approved		uc003qrn.2	P63172	OTTHUMG00000015918	ENST00000367089.3:c.263C>T	6.37:g.159058168G>A	ENSP00000356056:p.Ser88Phe					DYNLT1_ENST00000367089.3_Missense_Mutation_p.S88F	p.S19F			P63172	DYLT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)	2	2228	-		Breast(66;0.00519)|Ovarian(120;0.123)	88					Q15763|Q5VTU4	Missense_Mutation	SNP	ENST00000367089.3	37	c.56C>T	CCDS5257.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200929	0.38905	.	.	ENSG00000146425	ENST00000367089;ENST00000367088	T;T	0.31769	1.48;1.48	5.11	4.22	0.49857	.	0.392819	0.28946	N	0.013626	T	0.17746	0.0426	L	0.52126	1.63	0.80722	D	1	B	0.06786	0.001	B	0.16289	0.015	T	0.07385	-1.0775	10	0.87932	D	0	-12.8219	15.0405	0.71788	0.0:0.0:0.8567:0.1433	.	88	P63172	DYLT1_HUMAN	F	88;19	ENSP00000356056:S88F;ENSP00000356055:S19F	ENSP00000356055:S19F	S	-	2	0	DYNLT1	158978156	1.000000	0.71417	0.844000	0.33320	0.620000	0.37586	5.242000	0.65389	1.240000	0.43803	0.655000	0.94253	TCT		0.363	DYNLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042881.1	NM_006519		9	51	0	0	0	0.008291	0	9	51				
CATSPERD	257062	broad.mit.edu	37	19	5719905	5719905	+	5'Flank	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:5719905G>A	ENST00000381624.3	+	0	0				LONP1_ENST00000360614.3_Missense_Mutation_p.S80L|LONP1_ENST00000585374.1_Intron|LONP1_ENST00000540670.2_Intron|LONP1_ENST00000590511.1_5'UTR|CATSPERD_ENST00000381614.2_5'Flank|LONP1_ENST00000590729.1_5'Flank|LONP1_ENST00000593119.1_Intron	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta						multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CTCGCCCCCCGAGAATGCGCC	0.761																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(238-240)tCg>tTg		lon peptidase 1, mitochondrial							3.0	6.0	5.0					19																	5719905		1821	3705	5526	SO:0001631	upstream_gene_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5719905G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036		19.37:g.5719905G>A	Exception_encountered					LONP1_ENST00000585374.1_Intron|LONP1_ENST00000540670.2_Intron|LONP1_ENST00000593119.1_Intron|LONP1_ENST00000590511.1_5'UTR	p.S80L	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			1	396	-			80					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.239C>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047575	0.36085	.	.	ENSG00000196365	ENST00000360614	T	0.18502	2.21	4.2	4.2	0.49525	.	0.160530	0.42294	D	0.000737	T	0.08802	0.0218	N	0.24115	0.695	0.80722	D	1	P;P	0.37997	0.614;0.614	B;B	0.22152	0.038;0.038	T	0.15492	-1.0435	10	0.46703	T	0.11	-2.7961	9.3579	0.38177	0.0:0.0:0.7868:0.2132	.	80;80	E5KMH8;P36776	.;LONM_HUMAN	L	80	ENSP00000353826:S80L	ENSP00000353826:S80L	S	-	2	0	LONP1	5670905	0.999000	0.42202	0.099000	0.21106	0.041000	0.13682	4.286000	0.58995	2.163000	0.67991	0.655000	0.94253	TCG		0.761	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		5	10	0	0	0	0.014758	0	5	10				
ARHGEF18	23370	broad.mit.edu	37	19	7533921	7533921	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:7533921G>A	ENST00000359920.6	+	17	3380	c.3127G>A	c.(3127-3129)Gtg>Atg	p.V1043M	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.V885M|CTD-2207O23.3_ENST00000593531.1_Silent_p.P1000P	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1043					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCAGGCGGCCGTGCAGCAGCA	0.687																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(3127-3129)Gtg>Atg		Rho/Rac guanine nucleotide exchange factor (GEF) 18							18.0	18.0	18.0					19																	7533921		2180	4287	6467	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7533921G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.3127G>A	19.37:g.7533921G>A	ENSP00000352995:p.Val1043Met					ARHGEF18_ENST00000319670.9_Missense_Mutation_p.V885M|CTD-2207O23.3_ENST00000593531.1_Silent_p.P1000P	p.V1043M	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			17	3380	+		Renal(5;0.0902)	1043					A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.3127G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317531	0.81469	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.51325	0.71;0.71	5.05	5.05	0.67936	.	0.000000	0.45361	D	0.000367	T	0.62405	0.2425	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.971	T	0.59958	-0.7356	10	0.31617	T	0.26	-35.2916	11.049	0.47876	0.0:0.0:0.8143:0.1857	.	885;1043	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	M	885;1043	ENSP00000319200:V885M;ENSP00000352995:V1043M	ENSP00000319200:V885M	V	+	1	0	ARHGEF18	7439921	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.317000	0.79018	2.352000	0.79861	0.563000	0.77884	GTG		0.687	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		3	10	0	0	0	0.004672	0	3	10				
ADAMTS9	56999	broad.mit.edu	37	3	64527264	64527264	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:64527264T>C	ENST00000498707.1	-	34	5572	c.5230A>G	c.(5230-5232)Aga>Gga	p.R1744G	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1716G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1744	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCTTTAAGTCTTTTTACCTCC	0.383																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5230-5232)Aga>Gga		ADAM metallopeptidase with thrombospondin type 1 motif, 9							165.0	166.0	166.0					3																	64527264		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64527264T>C	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5230A>G	3.37:g.64527264T>C	ENSP00000418735:p.Arg1744Gly					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1716G	p.R1744G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	34	5572	-		Lung NSC(201;0.00682)	1744			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5230A>G	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	T	1.241	-0.621453	0.03636	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.18338	2.22;2.22	5.75	0.439	0.16567	Peptidase M12B, GON-ADAMTSs (2);	0.331513	0.32231	N	0.006395	T	0.14399	0.0348	L	0.54323	1.7	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.28933	-1.0028	10	0.23302	T	0.38	.	9.8863	0.41264	0.0:0.0631:0.4741:0.4628	.	1716;1744	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	G	1716;1744	ENSP00000295903:R1716G;ENSP00000418735:R1744G	ENSP00000295903:R1716G	R	-	1	2	ADAMTS9	64502304	0.189000	0.23263	0.000000	0.03702	0.239000	0.25481	0.350000	0.20079	-0.141000	0.11374	0.459000	0.35465	AGA		0.383	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			3	180	0	0	0	0.009096	0	3	180				
ATP6V1G2	534	broad.mit.edu	37	6	31516041	31516041	+	5'Flank	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:31516041C>T	ENST00000303892.5	-	0	0				ATP6V1G2-DDX39B_ENST00000376185.1_5'Flank|ATP6V1G2_ENST00000376151.4_5'Flank|NFKBIL1_ENST00000376145.4_Silent_p.L53L|NFKBIL1_ENST00000376148.4_Silent_p.L53L|ATP6V1G2_ENST00000483170.1_5'Flank|ATP6V1G2_ENST00000483251.1_5'Flank|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2						cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						AGGCCCTCCTCCAGCGACACC	0.682																																						ENST00000376148.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(157-159)ctC>ctT		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1							44.0	36.0	39.0					6																	31516041		1511	2709	4220	SO:0001631	upstream_gene_variant	4795				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:31516041C>T	Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"""ATPases / V-type"""	862	protein-coding gene	gene with protein product		606853	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"""	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618		6.37:g.31516041C>T	Exception_encountered					NFKBIL1_ENST00000376145.4_Silent_p.L53L	p.L53L	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN			2	273	+			53					B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	Silent	SNP	ENST00000303892.5	37	c.159C>T	CCDS4698.1	.	.	.	.	.	.	.	.	.	.	c	16.89	3.247290	0.59103	.	.	ENSG00000213760	ENST00000415099	T	0.59364	0.27	5.18	-1.06	0.10002	.	.	.	.	.	T	0.14399	0.0348	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26815	-1.0092	6	0.02654	T	1	-10.6034	9.8545	0.41077	0.0:0.3781:0.5302:0.0917	.	.	.	.	E	55	ENSP00000390148:G55E	ENSP00000390148:G55E	G	-	2	0	ATP6V1G2	31624020	0.805000	0.28982	0.997000	0.53966	0.997000	0.91878	-0.174000	0.09839	-0.110000	0.12022	0.651000	0.88453	GGA		0.682	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076399.3	NM_130463		20	57	0	0	0	0.016522	0	20	57				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	87	0	0	0	0.041601	0	28	87				
TP73	7161	broad.mit.edu	37	1	3624151	3624151	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:3624151G>A	ENST00000378295.4	+	4	380	c.225G>A	c.(223-225)atG>atA	p.M75I	TP73_ENST00000378290.4_Missense_Mutation_p.M4I|TP73_ENST00000346387.4_Missense_Mutation_p.M75I|TP73_ENST00000354437.4_Missense_Mutation_p.M75I|TP73_ENST00000604479.1_Missense_Mutation_p.M75I|TP73_ENST00000378280.1_Missense_Mutation_p.M26I|TP73_ENST00000603362.1_Missense_Mutation_p.M75I|TP73_ENST00000604074.1_Missense_Mutation_p.M75I|TP73_ENST00000378285.1_Missense_Mutation_p.M26I|TP73_ENST00000357733.3_Missense_Mutation_p.M75I|TP73_ENST00000378288.4_Missense_Mutation_p.M26I	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	75					activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TGGACCAGATGAGCAGCCGCG	0.667																																						ENST00000378295.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(223-225)atG>atA		tumor protein p73							73.0	83.0	79.0					1																	3624151		2203	4299	6502	SO:0001583	missense	7161				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3624151G>A	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.225G>A	1.37:g.3624151G>A	ENSP00000367545:p.Met75Ile					TP73_ENST00000604479.1_Missense_Mutation_p.M75I|TP73_ENST00000604074.1_Missense_Mutation_p.M75I|TP73_ENST00000378280.1_Missense_Mutation_p.M26I|TP73_ENST00000378285.1_Missense_Mutation_p.M26I|TP73_ENST00000603362.1_Missense_Mutation_p.M75I|TP73_ENST00000378288.4_Missense_Mutation_p.M26I|TP73_ENST00000378290.4_Missense_Mutation_p.M4I|TP73_ENST00000357733.3_Missense_Mutation_p.M75I|TP73_ENST00000354437.4_Missense_Mutation_p.M75I|TP73_ENST00000346387.4_Missense_Mutation_p.M75I	p.M75I	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	4	380	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	75					B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.225G>A	CCDS49.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.409541	0.01155	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99282	-5.46;-5.59;-5.35;-5.46;-5.47;-5.61;-5.68;-5.44	4.6	2.5	0.30297	.	0.405120	0.25361	N	0.031221	D	0.95178	0.8437	N	0.12182	0.205	0.26232	N	0.978991	B;B;B;B;B;B;B	0.10296	0.0;0.0;0.003;0.0;0.001;0.001;0.0	B;B;B;B;B;B;B	0.11329	0.0;0.001;0.006;0.001;0.002;0.003;0.001	D	0.88031	0.2775	10	0.06365	T	0.9	-26.1386	8.9129	0.35563	0.0:0.2834:0.5949:0.1217	.	26;4;26;26;26;75;75	B7Z8Z1;B7Z7J4;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;.;P73_HUMAN	I	75;75;75;75;26;26;26;4	ENSP00000367545:M75I;ENSP00000346423:M75I;ENSP00000350366:M75I;ENSP00000340740:M75I;ENSP00000367537:M26I;ENSP00000367534:M26I;ENSP00000367529:M26I;ENSP00000367539:M4I	ENSP00000340740:M75I	M	+	3	0	TP73	3614011	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	3.012000	0.49575	0.906000	0.36621	0.491000	0.48974	ATG		0.667	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		21	198	0	0	0	0.010504	0	21	198				
OR5V1	81696	broad.mit.edu	37	6	29323725	29323725	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:29323725A>G	ENST00000377154.1	-	4	547	c.248T>C	c.(247-249)gTg>gCg	p.V83A	OR5V1_ENST00000543825.1_Missense_Mutation_p.V83A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V83A(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGGAGGTGCACCATCATCTG	0.433																																					Ovarian(32;43 883 21137 32120 42650)	ENST00000377154.1																			1	Substitution - Missense(1)	p.V83A(1)	lung(1)	breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(247-249)gTg>gCg		olfactory receptor, family 5, subfamily V, member 1							113.0	108.0	110.0					6																	29323725		2203	4299	6502	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323725A>G		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.248T>C	6.37:g.29323725A>G	ENSP00000366359:p.Val83Ala					OR5V1_ENST00000543825.1_Missense_Mutation_p.V83A	p.V83A			Q9UGF6	OR5V1_HUMAN			4	547	-			83					A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.248T>C	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	A	5.814	0.334415	0.11013	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.00388	7.59;7.59	4.22	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30193	N	0.010199	T	0.00039	0.0001	N	0.21508	0.67	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38112	-0.9676	10	0.10377	T	0.69	-3.5415	3.2304	0.06746	0.6348:0.1428:0.084:0.1384	.	83	Q9UGF6	OR5V1_HUMAN	A	83	ENSP00000366359:V83A;ENSP00000443309:V83A	ENSP00000366356:V83A	V	-	2	0	OR5V1	29431704	0.000000	0.05858	0.999000	0.59377	0.438000	0.31896	-5.120000	0.00149	0.736000	0.32559	0.438000	0.28831	GTG		0.433	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			17	147	0	0	0	0.033300	0	17	147				
LAMB2	3913	broad.mit.edu	37	3	49169963	49169963	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:49169963C>T	ENST00000418109.1	-	3	374	c.210G>A	c.(208-210)ctG>ctA	p.L70L	LAMB2_ENST00000305544.4_Silent_p.L70L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	70	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGGGCCATTCAGGCCACAAG	0.662																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(208-210)ctG>ctA		laminin, beta 2 (laminin S)							44.0	47.0	46.0					3																	49169963		2203	4300	6503	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49169963C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.210G>A	3.37:g.49169963C>T						LAMB2_ENST00000305544.4_Silent_p.L70L	p.L70L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	3	374	-			70			Laminin N-terminal.		Q16321	Silent	SNP	ENST00000418109.1	37	c.210G>A	CCDS2789.1																																																																																				0.662	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		22	76	0	0	0	0.010504	0	22	76				
DUSP6	1848	broad.mit.edu	37	12	89745586	89745586	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:89745586G>A	ENST00000279488.7	-	1	1462	c.231C>T	c.(229-231)ttC>ttT	p.F77F	DUSP6_ENST00000547140.1_5'Flank|DUSP6_ENST00000547291.1_5'Flank|DUSP6_ENST00000308385.6_Silent_p.F77F	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	77	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.		F -> I (in HH19). {ECO:0000269|PubMed:23643382}.		cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CGCCGCGCGTGAAGAGCGCGC	0.662																																					Colon(132;3456 5224)	ENST00000279488.7																			0				large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						c.(229-231)ttC>ttT		dual specificity phosphatase 6							14.0	14.0	14.0					12																	89745586		2180	4272	6452	SO:0001819	synonymous_variant	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89745586G>A	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.231C>T	12.37:g.89745586G>A						DUSP6_ENST00000308385.6_Silent_p.F77F	p.F77F	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN			1	1462	-			77			Rhodanese.		O75109|Q53Y75|Q9BSH6	Silent	SNP	ENST00000279488.7	37	c.231C>T	CCDS9033.1																																																																																				0.662	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		5	22	0	0	0	0.021553	0	5	22				
PIAS3	10401	broad.mit.edu	37	1	145584527	145584527	+	Silent	SNP	T	T	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:145584527T>A	ENST00000393045.2	+	12	1584	c.1494T>A	c.(1492-1494)ccT>ccA	p.P498P	NUDT17_ENST00000444015.2_5'Flank|PIAS3_ENST00000369298.1_Silent_p.P463P	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	498					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAAGGAGCCCTGCTATGGGCA	0.597																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1492-1494)ccT>ccA		protein inhibitor of activated STAT, 3							116.0	114.0	115.0					1																	145584527		2203	4300	6503	SO:0001819	synonymous_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584527T>A	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1494T>A	1.37:g.145584527T>A						PIAS3_ENST00000369298.1_Silent_p.P463P	p.P498P	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			12	1584	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		498					Q9UFI3	Silent	SNP	ENST00000393045.2	37	c.1494T>A	CCDS920.2																																																																																				0.597	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		8	225	0	0	0	0.038147	0	8	225				
ALG3	10195	broad.mit.edu	37	3	183966697	183966697	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:183966697G>A	ENST00000397676.3	-	1	62	c.32C>T	c.(31-33)tCc>tTc	p.S11F	ECE2_ENST00000402825.3_5'Flank|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_5'UTR|ALG3_ENST00000455059.1_Intron|ALG3_ENST00000445626.2_Intron|ECE2_ENST00000324557.4_5'Flank	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	11					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCGGAACCGGACCGGCCGCG	0.697																																						ENST00000397676.3																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(31-33)tCc>tTc		ALG3, alpha-1,3- mannosyltransferase							5.0	6.0	6.0					3																	183966697		1724	3853	5577	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183966697G>A	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.32C>T	3.37:g.183966697G>A	ENSP00000380793:p.Ser11Phe					EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Intron|ALG3_ENST00000455059.1_Intron|ALG3_ENST00000418734.2_5'UTR	p.S11F	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	62	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		11					A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.32C>T	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841320	0.32513	.	.	ENSG00000214160	ENST00000397676	D	0.87887	-2.31	5.6	3.76	0.43208	.	0.974484	0.08272	U	0.971316	T	0.75324	0.3834	N	0.08118	0	0.31680	N	0.643211	B	0.26876	0.162	B	0.23275	0.045	T	0.70000	-0.4992	10	0.56958	D	0.05	0.5995	8.6764	0.34181	0.0:0.149:0.5432:0.3079	.	11	Q92685	ALG3_HUMAN	F	11	ENSP00000380793:S11F	ENSP00000380793:S11F	S	-	2	0	ALG3	185449391	0.001000	0.12720	0.066000	0.19879	0.110000	0.19582	0.468000	0.22051	0.678000	0.31325	0.650000	0.86243	TCC		0.697	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		4	7	0	0	0	0.014758	0	4	7				
THSD1	55901	broad.mit.edu	37	13	52971918	52971918	+	Missense_Mutation	SNP	G	G	A	rs377383416		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:52971918G>A	ENST00000258613.4	-	3	648	c.470C>T	c.(469-471)cCg>cTg	p.P157L	THSD1_ENST00000544466.1_Intron|RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000349258.4_Missense_Mutation_p.P157L	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	157					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CACAGGAAACGGGCACAGTGG	0.498																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(469-471)cCg>cTg		thrombospondin, type I, domain containing 1							100.0	85.0	90.0					13																	52971918		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971918G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.470C>T	13.37:g.52971918G>A	ENSP00000258613:p.Pro157Leu					THSD1_ENST00000258613.4_Missense_Mutation_p.P157L|THSD1_ENST00000544466.1_Intron	p.P157L	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	1014	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	157					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.470C>T	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	G	2.779	-0.254001	0.05829	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.17213	2.29;2.46	5.54	0.591	0.17465	.	0.650212	0.15529	N	0.257584	T	0.10078	0.0247	L	0.31926	0.97	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.35773	-0.9775	10	0.21014	T	0.42	4.0E-4	4.6539	0.12608	0.4049:0.0:0.4546:0.1405	.	157;157	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	L	157	ENSP00000340650:P157L;ENSP00000258613:P157L	ENSP00000258613:P157L	P	-	2	0	THSD1	51869919	0.015000	0.18098	0.000000	0.03702	0.043000	0.13939	0.691000	0.25467	-0.220000	0.09988	0.561000	0.74099	CCG		0.498	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			8	85	0	0	0	0.038147	0	8	85				
BICC1	80114	broad.mit.edu	37	10	60573609	60573609	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:60573609C>T	ENST00000373886.3	+	18	2400	c.2396C>T	c.(2395-2397)tCa>tTa	p.S799L	BICC1_ENST00000263103.1_Missense_Mutation_p.S425L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	799					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATGTCCCTTTCACGGTCCAAC	0.458																																						ENST00000373886.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(2395-2397)tCa>tTa		bicaudal C homolog 1 (Drosophila)							145.0	135.0	139.0					10																	60573609		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60573609C>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2396C>T	10.37:g.60573609C>T	ENSP00000362993:p.Ser799Leu					BICC1_ENST00000263103.1_Missense_Mutation_p.S425L	p.S799L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			18	2400	+			799						Missense_Mutation	SNP	ENST00000373886.3	37	c.2396C>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926163	0.92319	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.53640	1.61;0.61	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.78314	0.991;0.977	T	0.67452	-0.5667	10	0.62326	D	0.03	-11.9317	18.4528	0.90710	0.0:1.0:0.0:0.0	.	719;799	E7EU62;Q9H694	.;BICC1_HUMAN	L	799;425	ENSP00000362993:S799L;ENSP00000263103:S425L	ENSP00000263103:S425L	S	+	2	0	BICC1	60243615	1.000000	0.71417	0.877000	0.34402	0.772000	0.43724	7.362000	0.79507	2.793000	0.96121	0.563000	0.77884	TCA		0.458	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		40	116	0	0	0	0.039052	0	40	116				
RPRD1A	55197	broad.mit.edu	37	18	33647312	33647312	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:33647312G>A	ENST00000399022.4	-	1	227	c.56C>T	c.(55-57)tCg>tTg	p.S19L	RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000357384.4_Missense_Mutation_p.S19L|RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000588459.1_5'Flank|RPRD1A_ENST00000319040.6_Missense_Mutation_p.S19L	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	19	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GCTCTGCTGCGAGTTGCTCAA	0.637																																						ENST00000399022.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(55-57)tCg>tTg		regulation of nuclear pre-mRNA domain containing 1A							91.0	65.0	74.0					18																	33647312		2202	4300	6502	SO:0001583	missense	55197							g.chr18:33647312G>A	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.56C>T	18.37:g.33647312G>A	ENSP00000381984:p.Ser19Leu					RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000319040.6_Missense_Mutation_p.S19L|RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000357384.4_Missense_Mutation_p.S19L	p.S19L	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN			1	227	-			19			CID.		A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.56C>T	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306429	0.95629	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000319040	T;T;T	0.55588	0.51;0.51;0.51	5.38	4.51	0.55191	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.000000	0.85682	D	0.000000	T	0.76428	0.3986	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.975	T	0.81413	-0.0944	10	0.87932	D	0	-4.2553	12.0771	0.53649	0.0842:0.0:0.9158:0.0	.	19;19	Q96P16-2;Q96P16	.;RPR1A_HUMAN	L	19	ENSP00000381984:S19L;ENSP00000349955:S19L;ENSP00000314602:S19L	ENSP00000314602:S19L	S	-	2	0	RPRD1A	31901310	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.457000	0.97630	1.279000	0.44446	0.561000	0.74099	TCG		0.637	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		4	9	0	0	0	0.009096	0	4	9				
KRTAP5-5	439915	broad.mit.edu	37	11	1651522	1651522	+	Missense_Mutation	SNP	C	C	T	rs201208697		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:1651522C>T	ENST00000399676.2	+	1	490	c.452C>T	c.(451-453)tCt>tTt	p.S151F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	151	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTGTGGTTCTTATGGCTGC	0.667																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(451-453)tCt>tTt		keratin associated protein 5-5							45.0	60.0	55.0					11																	1651522		2162	4232	6394	SO:0001583	missense	439915					keratin filament		g.chr11:1651522C>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.452C>T	11.37:g.1651522C>T	ENSP00000382584:p.Ser151Phe						p.S151F	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	490	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	151			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.452C>T	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	c	0.995	-0.692829	0.03303	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01172	5.23	2.28	2.28	0.28536	.	.	.	.	.	T	0.02418	0.0074	M	0.81497	2.545	0.09310	N	1	B	0.21905	0.062	B	0.14578	0.011	T	0.18335	-1.0340	9	0.56958	D	0.05	.	10.6307	0.45534	0.0:1.0:0.0:0.0	.	151	Q701N2	KRA55_HUMAN	F	151;122	ENSP00000382584:S151F	ENSP00000382584:S151F	S	+	2	0	KRTAP5-5	1608098	0.065000	0.20965	0.021000	0.16686	0.016000	0.09150	-0.229000	0.09098	1.584000	0.49913	0.484000	0.47621	TCT		0.667	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			11	179	0	0	0	0.024245	0	11	179				
ARFIP2	23647	broad.mit.edu	37	11	6500468	6500468	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:6500468G>A	ENST00000254584.2	-	4	300	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	ARFIP2_ENST00000525235.1_Missense_Mutation_p.H73Y|ARFIP2_ENST00000423813.2_Missense_Mutation_p.H35Y|ARFIP2_ENST00000445086.2_Intron|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000396777.3_Missense_Mutation_p.H73Y|TIMM10B_ENST00000530751.1_5'Flank|TIMM10B_ENST00000472836.1_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	73					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGGTGCTGTGAGATGGATGG	0.532																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(217-219)Cac>Tac		ADP-ribosylation factor interacting protein 2							92.0	85.0	88.0					11																	6500468		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6500468G>A	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.217C>T	11.37:g.6500468G>A	ENSP00000254584:p.His73Tyr					ARFIP2_ENST00000525235.1_Missense_Mutation_p.H73Y|ARFIP2_ENST00000423813.2_Missense_Mutation_p.H35Y|ARFIP2_ENST00000396777.3_Missense_Mutation_p.H73Y|ARFIP2_ENST00000445086.2_Intron	p.H73Y	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	4	300	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	73					B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.217C>T	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302234	0.60195	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000423813;ENST00000525235	T;T;T	0.76709	-1.03;-1.03;-1.04	5.49	5.49	0.81192	.	0.235853	0.50627	D	0.000117	T	0.63426	0.2510	L	0.29908	0.895	0.80722	D	1	P;P	0.47302	0.893;0.75	B;B	0.37144	0.242;0.129	T	0.66630	-0.5875	10	0.02654	T	1	.	18.9547	0.92654	0.0:0.0:1.0:0.0	.	106;73	B4DUZ3;P53365	.;ARFP2_HUMAN	Y	73;73;35;73	ENSP00000254584:H73Y;ENSP00000379998:H73Y;ENSP00000398375:H35Y	ENSP00000254584:H73Y	H	-	1	0	ARFIP2	6457044	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.056000	0.49923	2.588000	0.87417	0.484000	0.47621	CAC		0.532	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		22	113	0	0	0	0.014323	0	22	113				
C11orf74	119710	broad.mit.edu	37	11	36631730	36631730	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:36631730A>G	ENST00000334307.5	+	2	192	c.77A>G	c.(76-78)aAt>aGt	p.N26S	C11orf74_ENST00000534635.1_Missense_Mutation_p.N26S|C11orf74_ENST00000347206.4_Missense_Mutation_p.N26S|C11orf74_ENST00000446510.2_Missense_Mutation_p.N26S	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	26										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				AAATTCCTTAATTGTCATGAG	0.348																																						ENST00000446510.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(5)	8						c.(76-78)aAt>aGt		chromosome 11 open reading frame 74							89.0	89.0	89.0					11																	36631730		2202	4298	6500	SO:0001583	missense	119710							g.chr11:36631730A>G	AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.77A>G	11.37:g.36631730A>G	ENSP00000334848:p.Asn26Ser					C11orf74_ENST00000334307.5_Missense_Mutation_p.N26S|C11orf74_ENST00000534635.1_Missense_Mutation_p.N26S|C11orf74_ENST00000347206.4_Missense_Mutation_p.N26S	p.N26S			Q86VG3	CK074_HUMAN			2	176	+	all_lung(20;0.226)	all_hematologic(20;0.0118)	26					D3DR18|Q96DD6	Missense_Mutation	SNP	ENST00000334307.5	37	c.77A>G	CCDS7904.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250397	0.39797	.	.	ENSG00000166352	ENST00000334307;ENST00000531554;ENST00000347206;ENST00000534635;ENST00000446510;ENST00000530697;ENST00000527108;ENST00000532470	.	.	.	6.17	3.86	0.44501	.	0.405345	0.25827	N	0.028045	T	0.40119	0.1104	L	0.55481	1.735	0.32568	N	0.530204	B;P	0.35793	0.275;0.521	B;B	0.34652	0.067;0.187	T	0.49418	-0.8942	9	0.34782	T	0.22	-22.9604	8.8349	0.35107	0.8544:0.0:0.1456:0.0	.	26;26	Q86VG3;Q86VG3-2	CK074_HUMAN;.	S	26	.	ENSP00000334848:N26S	N	+	2	0	C11orf74	36588306	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	2.861000	0.48380	0.563000	0.29222	0.533000	0.62120	AAT		0.348	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1	NM_138787		14	62	0	0	0	0.020292	0	14	62				
AHNAK	79026	broad.mit.edu	37	11	62299935	62299935	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:62299935G>A	ENST00000378024.4	-	5	2228	c.1954C>T	c.(1954-1956)Cta>Tta	p.L652L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	652					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTGGGTAGAGTCATATGA	0.512																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(1954-1956)Cta>Tta		AHNAK nucleoprotein							128.0	126.0	127.0					11																	62299935		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62299935G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1954C>T	11.37:g.62299935G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L652L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2228	-		Melanoma(852;0.155)	652					A1A586	Silent	SNP	ENST00000378024.4	37	c.1954C>T	CCDS31584.1																																																																																				0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		38	135	0	0	0	0.030466	0	38	135				
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12								Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20								TBC1 domain family, member 12							13.0	14.0	14.0					10																	96162370		1622	3714	5336			23232					intracellular	Rab GTPase activator activity	g.chr10:96162370G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794		10.37:g.96162370G>A								NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			0	110	+		Colorectal(252;0.0429)						Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Translation_Start_Site	SNP	ENST00000225235.4	37		CCDS41553.1																																																																																				0.697	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			12	28	0	0	0	0.028581	0	12	28				
MALAT1	378938	broad.mit.edu	37	11	65265970	65265970	+	lincRNA	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:65265970C>T	ENST00000534336.1	+	0	738				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		CCGTGCTGCTCCGATTTCTCG	0.537																																						ENST00000534336.1																			0																				37.0	41.0	40.0					11																	65265970		874	1988	2862			0							g.chr11:65265970C>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65265970C>T								NR_002819.2						0	738	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.537	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		15	47	0	0	0	0.020292	0	15	47				
RFX5	5993	broad.mit.edu	37	1	151316350	151316350	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:151316350C>T	ENST00000290524.4	-	9	742	c.564G>A	c.(562-564)atG>atA	p.M188I	RFX5_ENST00000452671.2_Missense_Mutation_p.M188I|RFX5_ENST00000368870.2_Missense_Mutation_p.M188I|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452513.2_Missense_Mutation_p.M148I	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	188					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTTCTGGGCCCATTTCTGGCT	0.527																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(562-564)atG>atA		regulatory factor X, 5 (influences HLA class II expression)							61.0	58.0	59.0					1																	151316350		2203	4300	6503	SO:0001583	missense	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151316350C>T		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.564G>A	1.37:g.151316350C>T	ENSP00000290524:p.Met188Ile					RFX5_ENST00000452671.2_Missense_Mutation_p.M188I|RFX5_ENST00000452513.2_Missense_Mutation_p.M148I|RFX5_ENST00000368870.2_Missense_Mutation_p.M188I	p.M188I	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	742	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		188					B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	c.564G>A	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764916	0.49574	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595	T;T;T;T;T;T;T	0.72051	0.35;0.35;-0.62;0.35;0.35;0.35;-0.61	5.81	5.81	0.92471	.	0.166795	0.53938	D	0.000058	T	0.50548	0.1622	L	0.51422	1.61	0.42662	D	0.993485	B;B	0.30406	0.278;0.01	B;B	0.24974	0.057;0.005	T	0.50849	-0.8779	10	0.27082	T	0.32	-17.0776	14.28	0.66205	0.0:0.8513:0.1487:0.0	.	148;188	B7Z848;P48382	.;RFX5_HUMAN	I	188;188;80;188;148;188;188	ENSP00000290524:M188I;ENSP00000357864:M188I;ENSP00000390769:M80I;ENSP00000389130:M188I;ENSP00000398388:M148I;ENSP00000376502:M188I;ENSP00000399095:M188I	ENSP00000290524:M188I	M	-	3	0	RFX5	149582974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.592000	0.53993	2.746000	0.94184	0.655000	0.94253	ATG		0.527	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		17	54	0	0	0	0.007413	0	17	54				
PRM2	5620	broad.mit.edu	37	16	11369687	11369687	+	3'UTR	SNP	C	C	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:11369687C>G	ENST00000241808.4	-	0	488				RMI2_ENST00000572173.1_Intron|PRM2_ENST00000435245.2_Nonstop_Mutation_p.*141Y|PRM3_ENST00000327157.2_5'Flank|SNORA48_ENST00000390926.1_RNA	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2						cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						AGGGGAATTGCTATGGCCTCA	0.517																																						ENST00000435245.2																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						c.(421-423)taG>taC		protamine 2							82.0	80.0	81.0					16																	11369687		692	1591	2283	SO:0001624	3_prime_UTR_variant	5620				chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	g.chr16:11369687C>G		CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"""cancer/testis antigen family 94, member 2"""	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317	ENST00000241808.4:c.*70G>C	16.37:g.11369687C>G						PRM2_ENST00000241808.4_3'UTR|RMI2_ENST00000572173.1_Intron	p.*141Y			P04554	PRM2_HUMAN			2	532	-			0					Q6ZMM0	Nonstop_Mutation	SNP	ENST00000241808.4	37	c.423G>C	CCDS42118.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.310775	0.01342	.	.	ENSG00000122304	ENST00000435245	.	.	.	0.158	0.158	0.14942	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Y	141	.	.	X	-	3	2	PRM2	11277188	0.000000	0.05858	0.140000	0.22221	0.147000	0.21601	0.429000	0.21412	0.202000	0.20498	0.205000	0.17691	TAG		0.517	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417808.1			4	16	0	0	0	0.009096	0	4	16				
ICAM1	3383	broad.mit.edu	37	19	10395810	10395810	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:10395810C>T	ENST00000264832.3	+	7	1771	c.1446C>T	c.(1444-1446)gtC>gtT	p.V482V	ICAM1_ENST00000423829.2_Silent_p.V260V|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000393717.2_5'Flank|ICAM4_ENST00000340992.4_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	482					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	ATGAGATTGTCATCATCACTG	0.577																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1444-1446)gtC>gtT		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						96.0	101.0	99.0					19																	10395810		2203	4300	6503	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395810C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1446C>T	19.37:g.10395810C>T						ICAM1_ENST00000423829.2_Silent_p.V260V	p.V482V	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		7	1771	+			482					B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.1446C>T	CCDS12231.1																																																																																				0.577	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			23	76	0	0	0	0.018920	0	23	76				
ANAPC1	64682	broad.mit.edu	37	2	112621449	112621449	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:112621449G>A	ENST00000341068.3	-	9	1627	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	285					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCTGTTCAGAGAACTTTAAAA	0.393																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(853-855)ttC>ttT		anaphase promoting complex subunit 1							27.0	29.0	28.0					2																	112621449		2203	4298	6501	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112621449G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.855C>T	2.37:g.112621449G>A							p.F285F	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			9	1627	-			285					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.855C>T	CCDS2093.1																																																																																				0.393	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		5	17	0	0	0	0.013537	0	5	17				
OR8H3	390152	broad.mit.edu	37	11	55890231	55890231	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:55890231G>C	ENST00000313472.3	+	1	383	c.383G>C	c.(382-384)aGt>aCt	p.S128T		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCGATCTGCAGTCCTCTACAC	0.473																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(382-384)aGt>aCt		olfactory receptor, family 8, subfamily H, member 3							188.0	172.0	177.0					11																	55890231		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890231G>C	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.383G>C	11.37:g.55890231G>C	ENSP00000323928:p.Ser128Thr						p.S128T	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	383	+	Esophageal squamous(21;0.00693)		128					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.383G>C	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	3.897	-0.022827	0.07634	.	.	ENSG00000181761	ENST00000313472	T	0.01347	4.99	3.44	0.969	0.19686	GPCR, rhodopsin-like superfamily (1);	0.726516	0.12860	N	0.433166	T	0.01800	0.0057	L	0.48260	1.515	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.41270	-0.9518	10	0.62326	D	0.03	.	7.4794	0.27395	0.8137:0.0:0.1863:0.0	.	128	Q8N146	OR8H3_HUMAN	T	128	ENSP00000323928:S128T	ENSP00000323928:S128T	S	+	2	0	OR8H3	55646807	0.000000	0.05858	0.283000	0.24790	0.204000	0.24138	0.989000	0.29629	-0.032000	0.13758	0.173000	0.16961	AGT		0.473	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		3	230	0	0	0	0.004482	0	3	230				
KIAA1467	57613	broad.mit.edu	37	12	13224331	13224331	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:13224331G>A	ENST00000197268.8	+	10	1644		c.e10+1			NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCCCAATTCCGTGAGTGAGCC	0.517																																						ENST00000197268.8																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.e10+1		KIAA1467							70.0	68.0	68.0					12																	13224331		2203	4300	6503	SO:0001630	splice_region_variant	57613					integral to membrane		g.chr12:13224331G>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1524+1G>A	12.37:g.13224331G>A								NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	10	1644	+		Prostate(47;0.184)						Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Splice_Site	SNP	ENST00000197268.8	37		CCDS31750.1	.	.	.	.	.	.	.	.	.	.	g	14.68	2.608146	0.46527	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4621	0.84064	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1467	13115598	1.000000	0.71417	0.952000	0.39060	0.390000	0.30446	6.119000	0.71590	2.553000	0.86117	0.558000	0.71614	.		0.517	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	Intron	22	57	0	0	0	0.010504	0	22	57				
ARSH	347527	broad.mit.edu	37	X	2933405	2933405	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chrX:2933405G>A	ENST00000381130.2	+	4	735	c.735G>A	c.(733-735)atG>atA	p.M245I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	245					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTTCCCTCATGCTGAAGGAGG	0.398																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(733-735)atG>atA		arylsulfatase family, member H							83.0	66.0	72.0					X																	2933405		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2933405G>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.735G>A	X.37:g.2933405G>A	ENSP00000370522:p.Met245Ile						p.M245I	NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN			4	735	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	245						Missense_Mutation	SNP	ENST00000381130.2	37	c.735G>A	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.414676	0.01145	.	.	ENSG00000205667	ENST00000381130	D	0.98400	-4.91	4.03	1.8	0.24995	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.252892	0.38272	N	0.001758	D	0.90803	0.7112	N	0.04063	-0.285	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.82952	-0.0202	10	0.19590	T	0.45	.	3.4745	0.07579	0.1073:0.3381:0.4101:0.1445	.	245	Q5FYA8	ARSH_HUMAN	I	245	ENSP00000370522:M245I	ENSP00000370522:M245I	M	+	3	0	ARSH	2943405	0.479000	0.25925	0.009000	0.14445	0.251000	0.25915	0.159000	0.16442	0.516000	0.28340	0.556000	0.70494	ATG		0.398	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		13	67	0	0	0	0.020292	0	13	67				
ZNF646	9726	broad.mit.edu	37	16	31089468	31089468	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:31089468A>C	ENST00000394979.2	+	1	2246	c.1823A>C	c.(1822-1824)gAg>gCg	p.E608A	ZNF646_ENST00000300850.5_Missense_Mutation_p.E608A			O15015	ZN646_HUMAN	zinc finger protein 646	608					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGCAGAACAGAGACCACAATG	0.537																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(1822-1824)gAg>gCg		zinc finger protein 646							129.0	120.0	123.0					16																	31089468		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089468A>C	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1823A>C	16.37:g.31089468A>C	ENSP00000378429:p.Glu608Ala					ZNF646_ENST00000300850.5_Missense_Mutation_p.E608A	p.E608A			O15015	ZN646_HUMAN			1	2246	+			608					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.1823A>C		.	.	.	.	.	.	.	.	.	.	A	1.963	-0.438316	0.04636	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08984	3.03;3.05	5.2	4.12	0.48240	.	.	.	.	.	T	0.08223	0.0205	L	0.31578	0.945	0.22317	N	0.999204	B	0.19583	0.037	B	0.24701	0.055	T	0.28202	-1.0051	9	0.62326	D	0.03	-4.4068	10.1156	0.42589	0.9203:0.0:0.0797:0.0	.	608	O15015-2	.	A	608	ENSP00000300850:E608A;ENSP00000378429:E608A	ENSP00000300850:E608A	E	+	2	0	ZNF646	30996969	0.990000	0.36364	0.632000	0.29296	0.181000	0.23173	3.102000	0.50291	1.018000	0.39521	0.533000	0.62120	GAG		0.537	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		13	84	0	0	0	0.013537	0	13	84				
PTCH1	5727	broad.mit.edu	37	9	98239123	98239123	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:98239123G>A	ENST00000331920.6	-	11	1819	c.1520C>T	c.(1519-1521)gCt>gTt	p.A507V	PTCH1_ENST00000418258.1_Missense_Mutation_p.A356V|PTCH1_ENST00000430669.2_Missense_Mutation_p.A441V|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356V|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441V|PTCH1_ENST00000375274.2_Missense_Mutation_p.A506V|PTCH1_ENST00000429896.2_Missense_Mutation_p.A356V	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	507	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACACCAAGAGCGAGAAATGG	0.428																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(1321-1323)gCt>gTt		patched 1							143.0	111.0	121.0					9																	98239123		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98239123G>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1520C>T	9.37:g.98239123G>A	ENSP00000332353:p.Ala507Val					PTCH1_ENST00000429896.2_Missense_Mutation_p.A356V|PTCH1_ENST00000375274.2_Missense_Mutation_p.A506V|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356V|PTCH1_ENST00000418258.1_Missense_Mutation_p.A356V|PTCH1_ENST00000331920.6_Missense_Mutation_p.A507V|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441V	p.A441V			Q13635	PTC1_HUMAN			11	1907	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	507			SSD.		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.1322C>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427169	0.83667	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	5.54	4.64	0.57946	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	L	0.37561	1.115	0.80722	D	1	D;D;D;D	0.65815	0.995;0.992;0.995;0.994	D;D;D;D	0.74674	0.984;0.959;0.983;0.954	D	0.90037	0.4139	10	0.02654	T	1	-17.953	16.6136	0.84901	0.0:0.13:0.87:0.0	.	356;441;506;507	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	V	507;441;356;356;441;356;506;172	ENSP00000332353:A507V;ENSP00000389744:A441V;ENSP00000399981:A356V;ENSP00000396135:A356V;ENSP00000410287:A441V;ENSP00000414823:A356V;ENSP00000364423:A506V;ENSP00000364420:A172V	ENSP00000332353:A507V	A	-	2	0	PTCH1	97278944	1.000000	0.71417	0.946000	0.38457	0.550000	0.35303	9.263000	0.95617	1.562000	0.49601	0.655000	0.94253	GCT		0.428	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		9	33	0	0	0	0.008291	0	9	33				
ANAPC1	64682	broad.mit.edu	37	2	112621447	112621447	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:112621447G>A	ENST00000341068.3	-	9	1629	c.857C>T	c.(856-858)tCt>tTt	p.S286F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	286					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCCCTGTTCAGAGAACTTTAA	0.398																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(856-858)tCt>tTt		anaphase promoting complex subunit 1							27.0	29.0	28.0					2																	112621447		2203	4298	6501	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112621447G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.857C>T	2.37:g.112621447G>A	ENSP00000339109:p.Ser286Phe						p.S286F	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			9	1629	-			286					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.857C>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435486	0.62955	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	T	0.42765	0.1217	L	0.36672	1.1	0.38127	D	0.938042	P	0.38922	0.651	B	0.30855	0.121	T	0.51364	-0.8715	8	0.49607	T	0.09	-13.6752	17.4911	0.87703	0.0:0.0:1.0:0.0	.	286	Q9H1A4	APC1_HUMAN	F	286	.	ENSP00000339109:S286F	S	-	2	0	ANAPC1	112337918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.388000	0.79795	2.553000	0.86117	0.650000	0.86243	TCT		0.398	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		5	17	0	0	0	0.013537	0	5	17				
CCDC6	8030	broad.mit.edu	37	10	61666113	61666113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:61666113G>A	ENST00000263102.6	-	1	301	c.70C>T	c.(70-72)Cag>Tag	p.Q24*		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	24						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CAGGACGACTGCATGGCGGCC	0.751			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(70-72)Cag>Tag		coiled-coil domain containing 6							8.0	12.0	11.0					10																	61666113		1844	3752	5596	SO:0001587	stop_gained	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61666113G>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.70C>T	10.37:g.61666113G>A	ENSP00000263102:p.Gln24*						p.Q24*	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	1	301	-			24					Q15250|Q6GSG7	Nonsense_Mutation	SNP	ENST00000263102.6	37	c.70C>T	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	G	39	7.872556	0.98537	.	.	ENSG00000108091	ENST00000263102	.	.	.	4.31	4.31	0.51392	.	0.496053	0.19725	N	0.107488	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-15.0086	14.6998	0.69147	0.0:0.0:1.0:0.0	.	.	.	.	X	24	.	ENSP00000263102:Q24X	Q	-	1	0	CCDC6	61336119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.353000	0.44089	2.397000	0.81536	0.655000	0.94253	CAG		0.751	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		16	25	0	0	0	0.033300	0	16	25				
ZZEF1	23140	broad.mit.edu	37	17	3984759	3984759	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:3984759G>A	ENST00000381638.2	-	18	2864	c.2740C>T	c.(2740-2742)Ctt>Ttt	p.L914F	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	914							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L914delL(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCAGGTAAAAGAAGAAGGCCG	0.448																																						ENST00000381638.2																			1	Deletion - In frame(1)	p.L914delL(1)	large_intestine(1)	central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(2740-2742)Ctt>Ttt		zinc finger, ZZ-type with EF-hand domain 1							99.0	93.0	95.0					17																	3984759		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3984759G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2740C>T	17.37:g.3984759G>A	ENSP00000371051:p.Leu914Phe					ZZEF1_ENST00000574474.1_5'UTR	p.L914F	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			18	2864	-			914					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.2740C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384224	0.61845	.	.	ENSG00000074755	ENST00000381638	T	0.22945	1.93	5.36	5.36	0.76844	.	0.068014	0.64402	D	0.000010	T	0.33904	0.0879	L	0.29908	0.895	0.49687	D	0.999817	D;D	0.76494	0.994;0.999	P;D	0.68943	0.908;0.961	T	0.10064	-1.0646	10	0.72032	D	0.01	-11.9995	7.8585	0.29495	0.1774:0.0:0.8226:0.0	.	915;914	O43149-3;O43149	.;ZZEF1_HUMAN	F	914	ENSP00000371051:L914F	ENSP00000371051:L914F	L	-	1	0	ZZEF1	3931508	0.990000	0.36364	0.971000	0.41717	0.765000	0.43378	2.160000	0.42348	2.499000	0.84300	0.591000	0.81541	CTT		0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		35	79	0	0	0	0.013726	0	35	79				
GPR123	84435	broad.mit.edu	37	10	134910590	134910590	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:134910590A>C	ENST00000392607.3	+	3	552	c.116A>C	c.(115-117)tAc>tCc	p.Y39S	GPR123_ENST00000607359.1_Missense_Mutation_p.Y759S	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	39					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TTCGTCACCTACATCGTGCAC	0.632																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(2275-2277)tAc>tCc		G protein-coupled receptor 123							120.0	98.0	106.0					10																	134910590		2203	4300	6503	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134910590A>C	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.116A>C	10.37:g.134910590A>C	ENSP00000376384:p.Tyr39Ser					GPR123_ENST00000392607.3_Missense_Mutation_p.Y39S	p.Y759S			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	12	2276	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	39					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.2276A>C	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920030	0.52653	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.37915	1.17	3.85	3.85	0.44370	GPCR, family 2-like (1);	0.268160	0.25801	N	0.028216	T	0.60676	0.2287	M	0.85777	2.775	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.74674	0.973;0.984	T	0.66228	-0.5976	10	0.66056	D	0.02	-38.623	10.9105	0.47106	1.0:0.0:0.0:0.0	.	39;759	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	S	759;759;39	ENSP00000376384:Y39S	ENSP00000357566:Y759S	Y	+	2	0	GPR123	134760580	1.000000	0.71417	0.525000	0.27900	0.350000	0.29205	8.369000	0.90118	1.542000	0.49330	0.358000	0.22013	TAC		0.632	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			8	88	0	0	0	0.038147	0	8	88				
YES1	7525	broad.mit.edu	37	18	748002	748002	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:748002C>T	ENST00000584307.1	-	4	558	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	YES1_ENST00000577961.1_Missense_Mutation_p.E135K|YES1_ENST00000314574.4_Missense_Mutation_p.E130K			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	130	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GATCTTGCTTCCCACCAATCT	0.433																																						ENST00000584307.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(388-390)Gaa>Aaa		v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	Dasatinib(DB01254)						180.0	160.0	167.0					18																	748002		2203	4300	6503	SO:0001583	missense	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:748002C>T	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.388G>A	18.37:g.748002C>T	ENSP00000462468:p.Glu130Lys					YES1_ENST00000577961.1_Missense_Mutation_p.E135K|YES1_ENST00000314574.4_Missense_Mutation_p.E130K	p.E130K			P07947	YES_HUMAN			4	558	-			130			SH3.		A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	c.388G>A	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937449	0.73557	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.42900	0.96	5.64	5.64	0.86602	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	N	0.13140	0.3	0.80722	D	1	B	0.24186	0.099	B	0.25759	0.063	T	0.06734	-1.0810	10	0.21540	T	0.41	.	20.0556	0.97650	0.0:1.0:0.0:0.0	.	130	P07947	YES_HUMAN	K	130	ENSP00000324740:E130K	ENSP00000324740:E130K	E	-	1	0	YES1	738002	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.918000	0.69996	2.821000	0.97095	0.484000	0.47621	GAA		0.433	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		31	111	0	0	0	0.017118	0	31	111				
PELO	53918	broad.mit.edu	37	5	52096595	52096595	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:52096595G>A	ENST00000274311.2	+	2	1352	c.367G>A	c.(367-369)Gag>Aag	p.E123K	ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	123					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				TGTGGTACTGGAGCGCATCGA	0.587																																						ENST00000274311.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(367-369)Gag>Aag		pelota homolog (Drosophila)							63.0	59.0	61.0					5																	52096595		2203	4300	6503	SO:0001583	missense	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096595G>A		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.367G>A	5.37:g.52096595G>A	ENSP00000274311:p.Glu123Lys					ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000282588.6_Intron	p.E123K	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN			2	1352	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	123					Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	c.367G>A	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030565	0.75504	.	.	ENSG00000152684	ENST00000274311	T	0.45276	0.9	5.66	4.74	0.60224	eRF1 domain 1/Pelota-like (1);	0.063541	0.64402	U	0.000008	T	0.46405	0.1391	M	0.80982	2.52	0.58432	D	0.999995	B	0.25169	0.119	B	0.25614	0.062	T	0.41822	-0.9487	10	0.26408	T	0.33	-19.2634	15.0742	0.72063	0.0:0.0:0.8574:0.1425	.	123	Q9BRX2	PELO_HUMAN	K	123	ENSP00000274311:E123K	ENSP00000274311:E123K	E	+	1	0	PELO	52132352	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.047000	0.76599	2.665000	0.90641	0.563000	0.77884	GAG		0.587	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		16	55	0	0	0	0.028581	0	16	55				
ERBB3	2065	broad.mit.edu	37	12	56490857	56490857	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:56490857A>G	ENST00000267101.3	+	20	2743	c.2303A>G	c.(2302-2304)cAt>cGt	p.H768R	ERBB3_ENST00000553131.1_Missense_Mutation_p.H9R|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.H125R|ERBB3_ENST00000415288.2_Missense_Mutation_p.H709R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	768	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGCCTGGACCATGCCCACATT	0.502																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2302-2304)cAt>cGt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							103.0	84.0	91.0					12																	56490857		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56490857A>G	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2303A>G	12.37:g.56490857A>G	ENSP00000267101:p.His768Arg					ERBB3_ENST00000553131.1_Missense_Mutation_p.H9R|ERBB3_ENST00000450146.2_Missense_Mutation_p.H125R|ERBB3_ENST00000415288.2_Missense_Mutation_p.H709R	p.H768R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		20	2743	+			768			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.2303A>G	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.579004	0.86645	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000553131	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.88683	0.6503	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91898	0.5529	10	0.87932	D	0	.	15.0473	0.71838	1.0:0.0:0.0:0.0	.	768	P21860	ERBB3_HUMAN	R	768;125;709;9	ENSP00000267101:H768R;ENSP00000399178:H125R;ENSP00000408340:H709R;ENSP00000449129:H9R	ENSP00000267101:H768R	H	+	2	0	ERBB3	54777124	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.014000	0.93635	2.254000	0.74563	0.459000	0.35465	CAT		0.502	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			16	98	0	0	0	0.028581	0	16	98				
ZNF721	170960	broad.mit.edu	37	4	435626	435626	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr4:435626G>A	ENST00000338977.5	-	2	2642	c.2594C>T	c.(2593-2595)tCt>tTt	p.S865F	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.S877F|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	865					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAGATTTGCAGACTGTCTAAA	0.403																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(2593-2595)tCt>tTt		zinc finger protein 721							68.0	71.0	70.0					4																	435626		2058	4228	6286	SO:0001583	missense	170960							g.chr4:435626G>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2594C>T	4.37:g.435626G>A	ENSP00000340524:p.Ser865Phe					ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.S877F	p.S865F							2	2642	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.2594C>T		.	.	.	.	.	.	.	.	.	.	G	1.485	-0.556216	0.03967	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.29397	1.57;1.57	0.539	-1.08	0.09936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29028	0.0721	M	0.72624	2.21	0.09310	N	1	P;P;D	0.56035	0.676;0.956;0.974	P;B;P	0.45558	0.485;0.271;0.46	T	0.21552	-1.0242	9	0.21540	T	0.41	.	4.2358	0.10625	0.0:1.0E-4:0.3526:0.6473	.	865;877;877	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	F	865;877	ENSP00000340524:S865F;ENSP00000428878:S877F	ENSP00000340524:S865F	S	-	2	0	ZNF721	425626	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-2.315000	0.01124	-0.579000	0.05952	0.205000	0.17691	TCT		0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		15	52	0	0	0	0.020292	0	15	52				
DTNA	1837	broad.mit.edu	37	18	32438301	32438301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:32438301C>T	ENST00000399113.3	+	15	1504	c.1504C>T	c.(1504-1506)Cag>Tag	p.Q502*	DTNA_ENST00000269191.6_Nonsense_Mutation_p.Q502*|DTNA_ENST00000597674.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000556414.3_Nonsense_Mutation_p.Q154*|DTNA_ENST00000599844.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.Q502*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.Q499*|DTNA_ENST00000601125.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000399097.3_Nonsense_Mutation_p.Q150*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.Q503*|DTNA_ENST00000399121.5_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269192.7_Nonsense_Mutation_p.Q211*|DTNA_ENST00000596745.1_Nonsense_Mutation_p.Q252*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000591182.1_Nonsense_Mutation_p.Q150*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000283365.9_Nonsense_Mutation_p.Q445*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.Q445*			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	502					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACAAGCTTCTCAGCCCACGCC	0.512																																						ENST00000283365.9																			6	Substitution - Missense(3)|Substitution - Nonsense(3)	p.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1)	lung(6)	endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1333-1335)Cag>Tag		dystrobrevin, alpha							67.0	65.0	66.0					18																	32438301		2203	4300	6503	SO:0001587	stop_gained	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32438301C>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1504C>T	18.37:g.32438301C>T	ENSP00000382064:p.Gln502*					DTNA_ENST00000596745.1_Nonsense_Mutation_p.Q252*|DTNA_ENST00000269192.7_Nonsense_Mutation_p.Q211*|DTNA_ENST00000597674.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000591182.1_Nonsense_Mutation_p.Q150*|DTNA_ENST00000556414.3_Nonsense_Mutation_p.Q154*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000399097.3_Nonsense_Mutation_p.Q150*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000599844.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.Q503*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000399121.5_Nonsense_Mutation_p.Q442*|DTNA_ENST00000601125.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269191.6_Nonsense_Mutation_p.Q502*|DTNA_ENST00000399113.3_Nonsense_Mutation_p.Q502*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.Q502*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.Q499*	p.Q445*	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			15	1684	+			502			Syntrophin-binding region.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Nonsense_Mutation	SNP	ENST00000399113.3	37	c.1333C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	38	6.884341	0.97908	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-15.8894	19.4422	0.94825	0.0:1.0:0.0:0.0	.	.	.	.	X	445;445;442;503;150;499;502;502;502;502;211;150;154	.	ENSP00000269190:Q503X	Q	+	1	0	DTNA	30692299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.612000	0.88384	0.650000	0.86243	CAG		0.512	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		15	80	0	0	0	0.038395	0	15	80				
KIAA1244	57221	broad.mit.edu	37	6	138583995	138583995	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:138583995G>A	ENST00000251691.4	+	12	1541	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCTGCGCCTTGAGGAGCTGAA	0.612																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(1375-1377)Gag>Aag		KIAA1244							100.0	80.0	87.0					6																	138583995		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138583995G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1375G>A	6.37:g.138583995G>A	ENSP00000251691:p.Glu459Lys						p.E459K	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	1541	+	Breast(32;0.135)		459						Missense_Mutation	SNP	ENST00000251691.4	37	c.1375G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130896	0.77549	.	.	ENSG00000112379	ENST00000251691	T	0.19669	2.13	5.62	5.62	0.85841	.	0.179644	0.49305	D	0.000148	T	0.12987	0.0315	L	0.44542	1.39	0.51482	D	0.999924	B	0.31383	0.321	B	0.26770	0.073	T	0.02728	-1.1118	10	0.66056	D	0.02	-21.4056	19.6685	0.95901	0.0:0.0:1.0:0.0	.	459	Q5TH69	BIG3_HUMAN	K	459	ENSP00000251691:E459K	ENSP00000251691:E459K	E	+	1	0	KIAA1244	138625688	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.496000	0.97967	2.639000	0.89480	0.655000	0.94253	GAG		0.612	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		9	35	0	0	0	0.004482	0	9	35				
WNT4	54361	broad.mit.edu	37	1	22448049	22448049	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:22448049C>T	ENST00000290167.6	-	3	377	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	WNT4_ENST00000542383.1_Missense_Mutation_p.V57M	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	112					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ATGGCGTACACGAAGGCCGCC	0.657																																						ENST00000290167.6																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(334-336)Gtg>Atg		wingless-type MMTV integration site family, member 4							44.0	44.0	44.0					1																	22448049		2203	4300	6503	SO:0001583	missense	54361				adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22448049C>T	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.334G>A	1.37:g.22448049C>T	ENSP00000290167:p.Val112Met					WNT4_ENST00000542383.1_Missense_Mutation_p.V57M	p.V112M	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	3	377	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	112					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Missense_Mutation	SNP	ENST00000290167.6	37	c.334G>A	CCDS223.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152803	0.94645	.	.	ENSG00000162552	ENST00000290167;ENST00000542383	T;T	0.78707	-1.2;-1.2	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.88923	0.6569	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.90869	0.4744	10	0.72032	D	0.01	.	16.4483	0.83959	0.0:1.0:0.0:0.0	.	112	P56705	WNT4_HUMAN	M	112;57	ENSP00000290167:V112M;ENSP00000441033:V57M	ENSP00000290167:V112M	V	-	1	0	WNT4	22320636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.853000	0.62911	2.303000	0.77524	0.555000	0.69702	GTG		0.657	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			4	52	0	0	0	0.009096	0	4	52				
NAAA	27163	broad.mit.edu	37	4	76861902	76861902	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr4:76861902G>A	ENST00000286733.4	-	1	302	c.201C>T	c.(199-201)gtC>gtT	p.V67V	NAAA_ENST00000399497.3_Silent_p.V67V|NAAA_ENST00000505594.1_5'Flank|NAAA_ENST00000507956.1_Silent_p.V67V|NAAA_ENST00000507187.2_Silent_p.V67V	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	67					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						CTCACCCGATGACTTGCGCCA	0.687																																						ENST00000286733.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						c.(199-201)gtC>gtT		N-acylethanolamine acid amidase							12.0	13.0	13.0					4																	76861902		1904	4058	5962	SO:0001819	synonymous_variant	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76861902G>A	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.201C>T	4.37:g.76861902G>A						NAAA_ENST00000399497.3_Silent_p.V67V|NAAA_ENST00000507187.2_Silent_p.V67V|NAAA_ENST00000507956.1_Silent_p.V67V	p.V67V	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN			1	302	-			67					Q5KTF2|Q96EY2|Q9BRA8	Silent	SNP	ENST00000286733.4	37	c.201C>T	CCDS43239.1																																																																																				0.687	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4			17	24	0	0	0	0.008871	0	17	24				
GFOD1	54438	broad.mit.edu	37	6	13487069	13487069	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:13487069G>C	ENST00000379287.3	-	1	718	c.54C>G	c.(52-54)atC>atG	p.I18M	GFOD1_ENST00000379278.3_5'Flank|GFOD1_ENST00000603223.1_Missense_Mutation_p.I18M|AL583828.1_ENST00000558378.1_5'Flank|GFOD1-AS1_ENST00000446001.1_RNA	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	18						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TCAGCAGCGGGATGATGACAC	0.647																																						ENST00000379287.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18						c.(52-54)atC>atG		glucose-fructose oxidoreductase domain containing 1							69.0	64.0	66.0					6																	13487069		2203	4300	6503	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13487069G>C	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.54C>G	6.37:g.13487069G>C	ENSP00000368589:p.Ile18Met					GFOD1-AS1_ENST00000446001.1_RNA|GFOD1_ENST00000603223.1_Missense_Mutation_p.I18M	p.I18M	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		1	718	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	18					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.54C>G	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804066	0.70682	.	.	ENSG00000145990	ENST00000379287	T	0.24350	1.86	4.36	4.36	0.52297	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.190598	0.45867	D	0.000337	T	0.41858	0.1177	M	0.84326	2.69	0.39538	D	0.968777	P	0.44877	0.845	P	0.62298	0.9	T	0.35400	-0.9790	10	0.51188	T	0.08	-26.9763	12.3539	0.55163	0.0:0.1717:0.8283:0.0	.	18	Q9NXC2	GFOD1_HUMAN	M	18	ENSP00000368589:I18M	ENSP00000368589:I18M	I	-	3	3	GFOD1	13595048	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.705000	0.25675	2.255000	0.74692	0.536000	0.68110	ATC		0.647	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		16	105	0	0	0	0.028581	0	16	105				
GLCE	26035	broad.mit.edu	37	15	69561469	69561469	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr15:69561469C>T	ENST00000261858.2	+	5	1968	c.1740C>T	c.(1738-1740)acC>acT	p.T580T	GLCE_ENST00000559420.2_Silent_p.T516T	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	580					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						ACTATCATACCACCCACATCA	0.502																																						ENST00000261858.2																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1738-1740)acC>acT		glucuronic acid epimerase							215.0	209.0	211.0					15																	69561469		2200	4298	6498	SO:0001819	synonymous_variant	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69561469C>T	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1740C>T	15.37:g.69561469C>T						GLCE_ENST00000559420.2_Silent_p.T516T	p.T580T	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN			5	1968	+			580					Q6GUQ2	Silent	SNP	ENST00000261858.2	37	c.1740C>T	CCDS32277.1																																																																																				0.502	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		72	222	0	0	0	0.014410	0	72	222				
FARSA	2193	broad.mit.edu	37	19	13041137	13041137	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:13041137C>T	ENST00000314606.4	-	4	421	c.403G>A	c.(403-405)Gag>Aag	p.E135K	FARSA_ENST00000423140.2_Missense_Mutation_p.E135K|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000588025.1_Missense_Mutation_p.E175K	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	135					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CGCTGCACCTCATCCTCCATG	0.652																																						ENST00000588025.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(523-525)Gag>Aag		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						75.0	66.0	69.0					19																	13041137		2203	4300	6503	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13041137C>T	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.403G>A	19.37:g.13041137C>T	ENSP00000320309:p.Glu135Lys					FARSA_ENST00000314606.4_Missense_Mutation_p.E135K|FARSA_ENST00000423140.2_Missense_Mutation_p.E135K	p.E175K			Q9Y285	SYFA_HUMAN			5	663	-			135					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.523G>A	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	9.720	1.159426	0.21454	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.64438	-0.1;0.48	5.52	2.04	0.26737	.	0.561755	0.19599	N	0.110422	T	0.39226	0.1070	N	0.25201	0.72	0.18873	N	0.999982	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.12293	-1.0553	10	0.12103	T	0.63	-0.5167	6.2007	0.20575	0.1961:0.6318:0.0:0.1722	.	135;135;135	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	K	135	ENSP00000320309:E135K;ENSP00000396548:E135K	ENSP00000320309:E135K	E	-	1	0	FARSA	12902137	0.016000	0.18221	0.990000	0.47175	0.985000	0.73830	0.461000	0.21940	1.342000	0.45619	0.563000	0.77884	GAG		0.652	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		25	95	0	0	0	0.024334	0	25	95				
LRP10	26020	broad.mit.edu	37	14	23346174	23346174	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:23346174C>T	ENST00000359591.4	+	7	2271	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F	LRP10_ENST00000546834.1_Missense_Mutation_p.S527F|LRP10_ENST00000470660.1_3'UTR	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	527					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AACCTGCGTTCTCTGCTACAG	0.622																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(1579-1581)tCt>tTt		low density lipoprotein receptor-related protein 10							63.0	59.0	60.0					14																	23346174		2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23346174C>T	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1580C>T	14.37:g.23346174C>T	ENSP00000352601:p.Ser527Phe					LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Missense_Mutation_p.527_527insF	p.S527F	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	7	2271	+	all_cancers(95;4.69e-05)		527					A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.1580C>T	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979984	0.74360	.	.	ENSG00000197324	ENST00000359591;ENST00000546834	D;D	0.94280	-3.16;-3.39	5.13	5.13	0.70059	.	0.316684	0.33364	N	0.005000	D	0.95017	0.8387	L	0.53249	1.67	0.41694	D	0.98936	D	0.71674	0.998	P	0.61940	0.896	D	0.95220	0.8333	10	0.59425	D	0.04	-18.1735	15.8424	0.78861	0.0:1.0:0.0:0.0	.	527	Q7Z4F1	LRP10_HUMAN	F	527	ENSP00000352601:S527F;ENSP00000447559:S527F	ENSP00000352601:S527F	S	+	2	0	LRP10	22416014	0.991000	0.36638	1.000000	0.80357	0.979000	0.70002	2.608000	0.46308	2.557000	0.86248	0.563000	0.77884	TCT		0.622	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			22	62	0	0	0	0.014323	0	22	62				
ATP12A	479	broad.mit.edu	37	13	25262595	25262595	+	Missense_Mutation	SNP	G	G	A	rs149324896		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:25262595G>A	ENST00000381946.3	+	4	534	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ATP12A_ENST00000218548.6_Missense_Mutation_p.A123T			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	123					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GTGGGTGGGCGCCTTTCTCTG	0.572																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(367-369)Gcc>Acc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)	G	THR/ALA,THR/ALA	0,4406		0,0,2203	228.0	233.0	232.0		367,367	5.1	0.1	13	dbSNP_134	232	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP12A	NM_001185085.1,NM_001676.5	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	123/1046,123/1040	25262595	1,13005	2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25262595G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.367G>A	13.37:g.25262595G>A	ENSP00000371372:p.Ala123Thr					ATP12A_ENST00000381946.3_Missense_Mutation_p.A123T	p.A123T	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	4	700	+		Lung SC(185;0.0225)|Breast(139;0.077)	123					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.367G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857469	0.51376	0.0	1.16E-4	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.85339	-1.97;-1.97	5.06	5.06	0.68205	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000002	D	0.89280	0.6670	M	0.85197	2.74	0.80722	D	1	P;D	0.54047	0.948;0.964	P;B	0.48141	0.568;0.369	D	0.91355	0.5107	10	0.87932	D	0	.	15.9701	0.80008	0.0:0.0:1.0:0.0	.	123;123	P54707-2;P54707	.;AT12A_HUMAN	T	123	ENSP00000218548:A123T;ENSP00000371372:A123T	ENSP00000218548:A123T	A	+	1	0	ATP12A	24160595	1.000000	0.71417	0.071000	0.20095	0.020000	0.10135	6.296000	0.72751	2.624000	0.88883	0.655000	0.94253	GCC		0.572	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		90	365	0	0	0	0.014410	0	90	365				
HNRNPUL2	221092	broad.mit.edu	37	11	62494265	62494265	+	Missense_Mutation	SNP	C	C	T	rs372276805		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:62494265C>T	ENST00000301785.5	-	1	556	c.364G>A	c.(364-366)Gcg>Acg	p.A122T	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.A122T|TTC9C_ENST00000513247.2_5'Flank|TTC9C_ENST00000532583.1_5'Flank|TTC9C_ENST00000316461.4_5'Flank	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	122	Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGCTCGGCCGCGGCCTCCATG	0.721													C|||	1	0.000199681	0.0008	0.0	5008	,	,		10795	0.0		0.0	False		,,,				2504	0.0					ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(364-366)Gcg>Acg		heterogeneous nuclear ribonucleoprotein U-like 2		C	THR/ALA	1,3511		0,1,1755	11.0	13.0	12.0		364	1.8	0.1	11		12	0,7868		0,0,3934	no	missense	HNRNPUL2	NM_001079559.2	58	0,1,5689	TT,TC,CC		0.0,0.0285,0.0088	benign	122/748	62494265	1,11379	1756	3934	5690	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62494265C>T		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.364G>A	11.37:g.62494265C>T	ENSP00000301785:p.Ala122Thr					RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.A122T	p.A122T	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			1	556	-			122			Glu-rich.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.364G>A	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	4.831	0.154454	0.09236	2.85E-4	0.0	ENSG00000214753	ENST00000301785	T	0.44482	0.92	3.79	1.84	0.25277	.	0.980375	0.08280	U	0.970027	T	0.21267	0.0512	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26883	-1.0090	10	0.20046	T	0.44	.	6.5922	0.22654	0.1783:0.7195:0.0:0.1022	.	122	Q1KMD3	HNRL2_HUMAN	T	122	ENSP00000301785:A122T	ENSP00000301785:A122T	A	-	1	0	HNRNPUL2	62250841	0.958000	0.32768	0.076000	0.20297	0.143000	0.21401	0.994000	0.29693	0.350000	0.24002	-0.521000	0.04368	GCG		0.721	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		20	39	0	0	0	0.012319	0	20	39				
EMR3	84658	broad.mit.edu	37	19	14736376	14736376	+	Silent	SNP	G	G	A	rs147270469	byFrequency	TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:14736376G>A	ENST00000253673.5	-	15	1948	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	EMR3_ENST00000599900.1_Silent_p.I401I|EMR3_ENST00000344373.4_Silent_p.I564I|EMR3_ENST00000443157.2_Silent_p.I490I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	616					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTGATTTTACGATCTCTCTAA	0.403																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1846-1848)atC>atT		egf-like module containing, mucin-like, hormone receptor-like 3							232.0	206.0	215.0					19																	14736376		2203	4300	6503	SO:0001819	synonymous_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14736376G>A	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1848C>T	19.37:g.14736376G>A						EMR3_ENST00000344373.4_Silent_p.I564I|EMR3_ENST00000599900.1_Silent_p.I401I|EMR3_ENST00000443157.2_Silent_p.I490I	p.I616I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			15	1948	-			616						Silent	SNP	ENST00000253673.5	37	c.1848C>T	CCDS12315.1																																																																																				0.403	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		18	172	0	0	0	0.010504	0	18	172				
FIGNL1	63979	broad.mit.edu	37	7	50514709	50514709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:50514709G>A	ENST00000419119.1	-	2	1830	c.277C>T	c.(277-279)Caa>Taa	p.Q93*	FIGNL1_ENST00000435566.1_Silent_p.L54L|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.Q93*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	93					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TCTGTTTGTTGAGATCCTGCC	0.323																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(277-279)Caa>Taa		fidgetin-like 1							104.0	103.0	103.0					7																	50514709		2203	4300	6503	SO:0001587	stop_gained	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514709G>A	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.277C>T	7.37:g.50514709G>A	ENSP00000410811:p.Gln93*					FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000435566.1_Silent_p.L54L|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.Q93*	p.Q93*			Q6PIW4	FIGL1_HUMAN			2	1830	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	93					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Nonsense_Mutation	SNP	ENST00000419119.1	37	c.277C>T	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	G	41	8.923951	0.99004	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119;ENST00000436590;ENST00000422854;ENST00000440350	.	.	.	5.16	5.16	0.70880	.	0.064959	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-5.4123	14.696	0.69121	0.0:0.0:0.8542:0.1458	.	.	.	.	X	93	.	ENSP00000349356:Q93X	Q	-	1	0	FIGNL1	50482203	1.000000	0.71417	0.982000	0.44146	0.956000	0.61745	6.124000	0.71620	2.564000	0.86499	0.563000	0.77884	CAA		0.323	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		30	105	0	0	0	0.030593	0	30	105				
CBR3	874	broad.mit.edu	37	21	37507778	37507778	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr21:37507778G>A	ENST00000290354.5	+	1	569	c.288G>A	c.(286-288)aaG>aaA	p.K96K	CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608641.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	96					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	TCGCCTTCAAGAGTAGGTGCA	0.672																																						ENST00000290354.5																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.e1+1		carbonyl reductase 3							23.0	29.0	27.0					21																	37507778		2203	4299	6502	SO:0001630	splice_region_variant	874					cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding	g.chr21:37507778G>A	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.289+1G>A	21.37:g.37507778G>A						CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	p.K96_splice	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN			1	569	+			96					Q6FHP2	Splice_Site	SNP	ENST00000290354.5	37	c.289_splice	CCDS13642.1																																																																																				0.672	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1		Silent	8	28	0	0	0	0.004482	0	8	28				
DIS3	22894	broad.mit.edu	37	13	73349381	73349381	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:73349381C>T	ENST00000377767.4	-	6	1055	c.955G>A	c.(955-957)Gat>Aat	p.D319N	DIS3_ENST00000377780.4_Missense_Mutation_p.D289N|DIS3_ENST00000545453.1_Missense_Mutation_p.D157N	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	319					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTCTCCACATCTTCTTCATTT	0.393										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(955-957)Gat>Aat		DIS3 mitotic control homolog (S. cerevisiae)							124.0	128.0	127.0					13																	73349381		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73349381C>T	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.955G>A	13.37:g.73349381C>T	ENSP00000366997:p.Asp319Asn	Multiple Myeloma(4;0.011)				DIS3_ENST00000545453.1_Missense_Mutation_p.D157N|DIS3_ENST00000377780.4_Missense_Mutation_p.D289N	p.D319N	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	6	1055	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	319					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.955G>A	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165698	0.57476	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.43294	0.95;0.95;0.95	6.06	5.23	0.72850	.	0.137236	0.64402	N	0.000004	T	0.44286	0.1286	M	0.70108	2.13	0.58432	D	0.999998	B;B	0.13145	0.005;0.007	B;B	0.18561	0.022;0.02	T	0.34775	-0.9815	10	0.39692	T	0.17	.	13.483	0.61348	0.0:0.8702:0.0:0.1298	.	289;319	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	N	319;289;157	ENSP00000366997:D319N;ENSP00000367011:D289N;ENSP00000440058:D157N	ENSP00000366997:D319N	D	-	1	0	DIS3	72247382	0.988000	0.35896	0.993000	0.49108	0.983000	0.72400	2.663000	0.46774	1.574000	0.49760	0.650000	0.86243	GAT		0.393	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		22	99	0	0	0	0.012319	0	22	99				
TOMM20L	387990	broad.mit.edu	37	14	58863033	58863033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:58863033C>T	ENST00000360945.2	+	2	196	c.154C>T	c.(154-156)Caa>Taa	p.Q52*	RP11-517O13.1_ENST00000556734.1_RNA|RP11-517O13.3_ENST00000556390.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	52					protein targeting (GO:0006605)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)				large_intestine(2)|lung(2)	4						AGCAGAGCCTCAAAAGGCTGA	0.657																																						ENST00000360945.2																			0				large_intestine(2)|lung(2)	4						c.(154-156)Caa>Taa		translocase of outer mitochondrial membrane 20 homolog (yeast)-like							63.0	58.0	60.0					14																	58863033		2203	4300	6503	SO:0001587	stop_gained	387990				protein targeting	integral to membrane|mitochondrial outer membrane translocase complex		g.chr14:58863033C>T		CCDS9734.1	14q23.1	2009-01-14			ENSG00000196860	ENSG00000196860			33752	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type I"""					15733919	Standard	NM_207377		Approved	UNQ9438	uc001xdr.1	Q6UXN7	OTTHUMG00000140323	ENST00000360945.2:c.154C>T	14.37:g.58863033C>T	ENSP00000354204:p.Gln52*						p.Q52*	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN			2	196	+			52					B2RPR0	Nonsense_Mutation	SNP	ENST00000360945.2	37	c.154C>T	CCDS9734.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725972	0.48833	.	.	ENSG00000196860	ENST00000360945	.	.	.	3.76	1.82	0.25136	.	2.597800	0.02540	N	0.094466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	15.8016	5.4609	0.16615	0.0:0.6792:0.2023:0.1185	.	.	.	.	X	52	.	ENSP00000354204:Q52X	Q	+	1	0	TOMM20L	57932786	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.225000	0.17757	0.228000	0.21019	0.563000	0.77884	CAA		0.657	TOMM20L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276937.1	NM_207377		8	35	0	0	0	0.008291	0	8	35				
ADAM30	11085	broad.mit.edu	37	1	120438365	120438365	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:120438365A>G	ENST00000369400.1	-	1	753	c.595T>C	c.(595-597)Tat>Cat	p.Y199H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	199					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GGGTGTTTATAGGATCCAGGA	0.408																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(595-597)Tat>Cat		ADAM metallopeptidase domain 30							100.0	100.0	100.0					1																	120438365		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438365A>G	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.595T>C	1.37:g.120438365A>G	ENSP00000358407:p.Tyr199His						p.Y199H	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	753	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	199					A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.595T>C	CCDS907.1	.	.	.	.	.	.	.	.	.	.	A	9.856	1.195019	0.22037	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01159	5.25	4.57	0.941	0.19519	Metallopeptidase, catalytic domain (1);	0.000000	0.42548	D	0.000683	T	0.00300	0.0009	N	0.17082	0.46	0.09310	N	1	B	0.24920	0.114	B	0.25405	0.06	T	0.48115	-0.9063	10	0.87932	D	0	.	3.7881	0.08709	0.6169:0.1885:0.1947:0.0	.	199	Q9UKF2	ADA30_HUMAN	H	199	ENSP00000358407:Y199H	ENSP00000358407:Y199H	Y	-	1	0	ADAM30	120239888	0.081000	0.21417	0.000000	0.03702	0.019000	0.09904	1.834000	0.39171	-0.005000	0.14395	0.460000	0.39030	TAT		0.408	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		3	119	0	0	0	0.009096	0	3	119				
NOL4	8715	broad.mit.edu	37	18	31463212	31463212	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:31463212G>A	ENST00000261592.5	-	10	2016	c.1719C>T	c.(1717-1719)agC>agT	p.S573S	NOL4_ENST00000589544.1_Silent_p.S471S|NOL4_ENST00000269185.4_Silent_p.S357S|NOL4_ENST00000535384.1_Silent_p.S288S|NOL4_ENST00000535475.1_Silent_p.S354S|NOL4_ENST00000538587.1_Silent_p.S499S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	573						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ACTCACCACTGCTGGAAGCAT	0.383																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1717-1719)agC>agT		nucleolar protein 4							149.0	133.0	138.0					18																	31463212		2203	4300	6503	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31463212G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1719C>T	18.37:g.31463212G>A						NOL4_ENST00000535384.1_Silent_p.S288S|NOL4_ENST00000538587.1_Silent_p.S499S|NOL4_ENST00000269185.4_Silent_p.S357S|NOL4_ENST00000535475.1_Silent_p.S354S|NOL4_ENST00000589544.1_Silent_p.S471S	p.S573S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			10	2016	-			573					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.1719C>T	CCDS11907.2																																																																																				0.383	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		33	159	0	0	0	0.021022	0	33	159				
TENM2	57451	broad.mit.edu	37	5	167553841	167553841	+	Silent	SNP	G	G	A	rs375025819	byFrequency	TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:167553841G>A	ENST00000518659.1	+	12	2331	c.2292G>A	c.(2290-2292)gcG>gcA	p.A764A	TENM2_ENST00000545108.1_Silent_p.A764A|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Silent_p.A532A|TENM2_ENST00000403607.2_Silent_p.A597A|TENM2_ENST00000519204.1_Silent_p.A643A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	764	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAGGCGCAGCGTGTGACCAGC	0.587													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15218	0.0		0.0	False		,,,				2504	0.0					ENST00000519204.1																			0											c.(1927-1929)gcG>gcA		teneurin transmembrane protein 2		G		6,4094		0,6,2044	44.0	50.0	48.0		2292	-0.9	1.0	5		48	1,8355		0,1,4177	no	coding-synonymous	ODZ2	NM_001122679.1		0,7,6221	AA,AG,GG		0.012,0.1463,0.0562		764/2766	167553841	7,12449	2050	4178	6228	SO:0001819	synonymous_variant	57451							g.chr5:167553841G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2292G>A	5.37:g.167553841G>A						TENM2_ENST00000403607.2_Silent_p.A597A|TENM2_ENST00000545108.1_Silent_p.A764A|TENM2_ENST00000520394.1_Silent_p.A532A|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000518659.1_Silent_p.A764A	p.A643A							11	2047	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.1929G>A																																																																																					0.587	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	30	0	0	0	0.009096	0	4	30				
ALG3	10195	broad.mit.edu	37	3	183966696	183966696	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:183966696G>A	ENST00000397676.3	-	1	63	c.33C>T	c.(31-33)tcC>tcT	p.S11S	ECE2_ENST00000402825.3_5'Flank|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_5'UTR|ALG3_ENST00000455059.1_Intron|ALG3_ENST00000445626.2_Intron|ECE2_ENST00000324557.4_5'Flank	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	11					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGCGGAACCGGACCGGCCGC	0.697																																						ENST00000397676.3																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(31-33)tcC>tcT		ALG3, alpha-1,3- mannosyltransferase							5.0	6.0	6.0					3																	183966696		1720	3850	5570	SO:0001819	synonymous_variant	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183966696G>A	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.33C>T	3.37:g.183966696G>A						EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Intron|ALG3_ENST00000455059.1_Intron|ALG3_ENST00000418734.2_5'UTR	p.S11S	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	63	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		11					A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	37	c.33C>T	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	G	9.150	1.016152	0.19355	.	.	ENSG00000214160	ENST00000446569	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	T	0.19485	0.0468	.	.	.	0.27121	N	0.962132	.	.	.	.	.	.	T	0.06356	-1.0831	4	.	.	.	0.5995	4.405	0.11406	0.1315:0.3693:0.3274:0.1717	.	.	.	.	W	10	.	.	R	-	1	2	ALG3	185449390	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-4.187000	0.00278	-4.194000	0.00066	-0.894000	0.02916	CGG		0.697	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		4	7	0	0	0	0.014758	0	4	7				
TMEM63A	9725	broad.mit.edu	37	1	226036682	226036682	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:226036682G>A	ENST00000366835.3	-	22	2373	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	701					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GCAGCACCAGGAAGGTGAACA	0.612																																						ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(2101-2103)ttC>ttT		transmembrane protein 63A							38.0	33.0	35.0					1																	226036682		2203	4297	6500	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226036682G>A		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2103C>T	1.37:g.226036682G>A							p.F701F	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			22	2373	-	Breast(184;0.197)		701					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.2103C>T	CCDS31042.1																																																																																				0.612	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		4	10	0	0	0	0.009096	0	4	10				
FAM155A	728215	broad.mit.edu	37	13	107823105	107823105	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:107823105C>T	ENST00000375915.2	-	3	1255	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	373						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CATTCTGGTTCATCATTGGTT	0.443																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1117-1119)Gaa>Aaa		family with sequence similarity 155, member A							163.0	133.0	143.0					13																	107823105		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:107823105C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.1117G>A	13.37:g.107823105C>T	ENSP00000365080:p.Glu373Lys						p.E373K	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			3	1255	-			373					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.1117G>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880202	0.72294	.	.	ENSG00000204442	ENST00000375915	T	0.11495	2.77	5.58	5.58	0.84498	.	0.116985	0.56097	D	0.000029	T	0.16300	0.0392	L	0.57536	1.79	0.53688	D	0.999971	P	0.39480	0.675	B	0.38428	0.273	T	0.00785	-1.1567	10	0.62326	D	0.03	.	18.6257	0.91336	0.0:1.0:0.0:0.0	.	373	B1AL88	F155A_HUMAN	K	373	ENSP00000365080:E373K	ENSP00000365080:E373K	E	-	1	0	FAM155A	106621106	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.806000	0.62569	2.626000	0.88956	0.644000	0.83932	GAA		0.443	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		5	66	0	0	0	0.029380	0	5	66				
PCDHGA12	26025	broad.mit.edu	37	5	140810404	140810404	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:140810404C>T	ENST00000252085.3	+	1	220	c.78C>T	c.(76-78)acC>acT	p.T26T	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	26					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGAGACCGGATGCACCC	0.582																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(76-78)acC>acT									83.0	94.0	90.0					5																	140810404		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140810404C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.78C>T	5.37:g.140810404C>T						PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron	p.T26T	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	220	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.78C>T	CCDS4260.1																																																																																				0.582	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		11	202	0	0	0	0.008291	0	11	202				
OR8H2	390151	broad.mit.edu	37	11	55872901	55872901	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:55872901G>C	ENST00000313503.1	+	1	383	c.383G>C	c.(382-384)aGt>aCt	p.S128T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GCGATCTGCAGTCCTCTACAC	0.478										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(382-384)aGt>aCt		olfactory receptor, family 8, subfamily H, member 2							195.0	185.0	189.0					11																	55872901		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872901G>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.383G>C	11.37:g.55872901G>C	ENSP00000323982:p.Ser128Thr	HNSCC(53;0.14)					p.S128T	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	383	+	Esophageal squamous(21;0.00693)		128					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.383G>C	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	2.155	-0.393640	0.04899	.	.	ENSG00000181767	ENST00000313503	T	0.01347	4.99	3.35	-0.769	0.11009	GPCR, rhodopsin-like superfamily (1);	0.726516	0.12860	N	0.433166	T	0.01661	0.0053	L	0.49126	1.545	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.40590	-0.9555	10	0.62326	D	0.03	.	5.7586	0.18186	0.5031:0.1387:0.3582:0.0	.	128	Q8N162	OR8H2_HUMAN	T	128	ENSP00000323982:S128T	ENSP00000323982:S128T	S	+	2	0	OR8H2	55629477	0.000000	0.05858	0.012000	0.15200	0.019000	0.09904	-0.018000	0.12568	-0.271000	0.09272	-0.423000	0.05987	AGT		0.478	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		68	234	0	0	0	0.014410	0	68	234				
TMEM50B	757	broad.mit.edu	37	21	34837657	34837657	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr21:34837657C>T	ENST00000542230.2	-	4	486	c.272G>A	c.(271-273)gGa>gAa	p.G91E	AP000301.1_ENST00000581654.1_RNA	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	91						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						ACCTGTTCTTCCTAAACAGCC	0.388																																						ENST00000542230.2																			0				breast(1)|kidney(1)|ovary(1)|skin(1)	4						c.(271-273)gGa>gAa		transmembrane protein 50B							119.0	104.0	109.0					21																	34837657		2203	4300	6503	SO:0001583	missense	757					endoplasmic reticulum|integral to membrane|plasma membrane		g.chr21:34837657C>T	AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.272G>A	21.37:g.34837657C>T	ENSP00000439768:p.Gly91Glu						p.G91E	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN			4	486	-			91					B2R4L4|D3DSF1|O60537|Q5PY47	Missense_Mutation	SNP	ENST00000542230.2	37	c.272G>A	CCDS13625.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111718	0.94339	.	.	ENSG00000142188	ENST00000542230;ENST00000440644	T	0.31769	1.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71839	-0.4471	10	0.52906	T	0.07	-28.8834	18.2871	0.90118	0.0:1.0:0.0:0.0	.	91	P56557	TM50B_HUMAN	E	91	ENSP00000439768:G91E	ENSP00000371390:G91E	G	-	2	0	TMEM50B	33759527	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.138000	0.77305	2.605000	0.88082	0.563000	0.77884	GGA		0.388	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			5	82	0	0	0	0.014758	0	5	82				
ZNF710	374655	broad.mit.edu	37	15	90611785	90611785	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr15:90611785C>T	ENST00000268154.4	+	2	1667	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCATGGAGTTCAGCCAGATTC	0.577																																						ENST00000268154.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(1414-1416)ttC>ttT		zinc finger protein 710							196.0	179.0	185.0					15																	90611785		2200	4298	6498	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90611785C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1416C>T	15.37:g.90611785C>T							p.F472F	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	1667	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		472					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.1416C>T	CCDS10358.1																																																																																				0.577	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		15	167	0	0	0	0.024245	0	15	167				
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)aggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1570-1572)ggfs		zinc finger protein 318							215.0	222.0	219.0					6																	43323502		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323502delT	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1570delA	6.37:g.43323502delT	ENSP00000354964:p.Arg526fs					ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1647	-			526					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.1570delA	CCDS4895.2																																																																																				0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		7	489						7	489	---	---	---	---
ATM	472	broad.mit.edu	37	11	108098397	108098397	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:108098397delG	ENST00000452508.2	+	3	235	c.46delG	c.(46-48)gaafs	p.E16fs	Y_RNA_ENST00000384240.1_RNA|ATM_ENST00000278616.4_Frame_Shift_Del_p.E16fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	16					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CCGTCAACTAGAACATGATAG	0.308			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(46-48)aafs	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							131.0	130.0	130.0					11																	108098397		2201	4296	6497	SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108098397delG	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.46delG	11.37:g.108098397delG	ENSP00000388058:p.Glu16fs	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Frame_Shift_Del_p.E16fs	p.E16fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	2	431	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	16					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.46delG	CCDS31669.1																																																																																				0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		19	77						19	77	---	---	---	---
IRF9	10379	broad.mit.edu	37	14	24635431	24635434	+	3'UTR	DEL	CACC	CACC	-			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:24635431_24635434delCACC	ENST00000396864.3	+	0	1495_1498				RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Frame_Shift_Del_p.LT343fs	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9						cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		TCTTCCACCTCACCTCTTTGTTCT	0.51																																						ENST00000557894.1																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(1027-1032)ctfs		interferon regulatory factor 9																																				SO:0001624	3_prime_UTR_variant	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24635431_24635434delCACC	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.*29CACC>-	14.37:g.24635431_24635434delCACC						RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000396864.3_3'UTR	p.LT343fs			Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	9	1221_1224	+			0					D3DS61	Frame_Shift_Del	DEL	ENST00000396864.3	37	c.1029_1032delCACC	CCDS9615.1																																																																																				0.510	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			8	28						8	28	---	---	---	---
ZC3H18	124245	broad.mit.edu	37	16	88690386	88690386	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:88690386delC	ENST00000301011.5	+	11	2014	c.1814delC	c.(1813-1815)tccfs	p.S605fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.S629fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	605	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TTCTCTTCGTCCCCGTCCCCG	0.647																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1813-1815)tcfs		zinc finger CCCH-type containing 18							95.0	86.0	89.0					16																	88690386		2198	4300	6498	SO:0001589	frameshift_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88690386delC	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1814delC	16.37:g.88690386delC	ENSP00000301011:p.Ser605fs					ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.S629fs	p.S605fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	11	2014	+			605			Ser-rich.		Q96DG4|Q96MP7	Frame_Shift_Del	DEL	ENST00000301011.5	37	c.1814delC	CCDS10967.1																																																																																				0.647	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		24	127						24	127	---	---	---	---
