#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PPOX	5498	broad.mit.edu	37	1	161140216	161140216	+	Silent	SNP	G	G	A			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr1:161140216G>A	ENST00000367999.4	+	10	1271	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Silent_p.V335V|PPOX_ENST00000432542.2_Silent_p.V80V|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	335			V -> G (in VP; strongly decreases enzyme activity; impairs protein folding and/or stability). {ECO:0000269|PubMed:10486317}.		heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GACATTTGGTGCCATCTTCAG	0.547																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15						c.(1003-1005)gtG>gtA		protoporphyrinogen oxidase							92.0	85.0	88.0					1																	161140216		2203	4300	6503	SO:0001819	synonymous_variant	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161140216G>A	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1005G>A	1.37:g.161140216G>A						PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Silent_p.V80V|PPOX_ENST00000352210.5_Silent_p.V335V|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron	p.V335V	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		10	1271	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		335					D3DVG0|Q5VTW8	Silent	SNP	ENST00000367999.4	37	c.1005G>A	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285635	0.40394	.	.	ENSG00000143224	ENST00000537523;ENST00000537829	.	.	.	5.43	3.54	0.40534	.	.	.	.	.	T	0.44871	0.1314	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42481	-0.9449	4	.	.	.	-23.0024	8.3615	0.32361	0.1797:0.0:0.8203:0.0	.	.	.	.	Y	88;58	.	.	C	+	2	0	PPOX	159406840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.804000	0.27098	1.533000	0.49186	0.650000	0.86243	TGC		0.547	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		23	42	23	42	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216243582	216243582	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr1:216243582G>C	ENST00000307340.3	-	30	6296	c.5910C>G	c.(5908-5910)agC>agG	p.S1970R	USH2A_ENST00000366943.2_Missense_Mutation_p.S1970R|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1970	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCACCTCAATGCTGTATCCAT	0.478										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5908-5910)agC>agG		Usher syndrome 2A (autosomal recessive, mild)							120.0	105.0	110.0					1																	216243582		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216243582G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5910C>G	1.37:g.216243582G>C	ENSP00000305941:p.Ser1970Arg	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S1970R	p.S1970R			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	30	6296	-			1970			Fibronectin type-III 6.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5910C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393849	0.42410	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.62639	0.01;0.01	5.44	0.924	0.19418	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.50627	U	0.000107	T	0.74779	0.3761	M	0.86178	2.8	0.25388	N	0.988555	D	0.71674	0.998	D	0.69824	0.966	T	0.64474	-0.6399	10	0.72032	D	0.01	.	5.4094	0.16341	0.4082:0.134:0.4578:0.0	.	1970	O75445	USH2A_HUMAN	R	1970	ENSP00000305941:S1970R;ENSP00000355910:S1970R	ENSP00000305941:S1970R	S	-	3	2	USH2A	214310205	0.890000	0.30428	0.000000	0.03702	0.995000	0.86356	1.297000	0.33400	-0.023000	0.13963	0.557000	0.71058	AGC		0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		3	67	3	67	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15415631	15415631	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr2:15415631A>C	ENST00000281513.5	-	44	5726	c.5701T>G	c.(5701-5703)Ttt>Gtt	p.F1901V	NBAS_ENST00000441750.1_Missense_Mutation_p.F1781V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1901					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTTGGAGAAAATGTAACTGCA	0.403																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(5701-5703)Ttt>Gtt		neuroblastoma amplified sequence							67.0	66.0	66.0					2																	15415631		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15415631A>C	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5701T>G	2.37:g.15415631A>C	ENSP00000281513:p.Phe1901Val					NBAS_ENST00000441750.1_Missense_Mutation_p.F1781V	p.F1901V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			44	5726	-			1901					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5701T>G	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.081435|4.081435	0.76528|0.76528	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.27256|.	1.68;1.92|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74512|0.74512	0.3726|0.3726	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.72338|.	0.977;0.928|.	T|T	0.74182|0.74182	-0.3748|-0.3748	10|5	0.87932|.	D|.	0|.	.|.	16.3768|16.3768	0.83409|0.83409	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1781;1901|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|Q	1781;1901|948	ENSP00000413201:F1781V;ENSP00000281513:F1901V|.	ENSP00000281513:F1901V|.	F|H	-|-	1|3	0|2	NBAS|NBAS	15333082|15333082	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.885000|0.885000	0.51271|0.51271	6.824000|6.824000	0.75288|0.75288	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	TTT|CAT		0.403	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		14	45	14	45	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196737041	196737041	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr2:196737041C>A	ENST00000312428.6	-	40	6666	c.6566G>T	c.(6565-6567)gGt>gTt	p.G2189V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2189	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAAACAAACACCTTGAATGAC	0.383																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6565-6567)gGt>gTt		dynein, axonemal, heavy chain 7							148.0	135.0	139.0					2																	196737041		1852	4095	5947	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196737041C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6566G>T	2.37:g.196737041C>A	ENSP00000311273:p.Gly2189Val						p.G2189V	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			40	6666	-			2189			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6566G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451610	0.84209	.	.	ENSG00000118997	ENST00000312428	T	0.55930	0.49	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90890	0.4760	10	0.87932	D	0	.	17.4071	0.87476	0.0:1.0:0.0:0.0	.	2189	Q8WXX0	DYH7_HUMAN	V	2189	ENSP00000311273:G2189V	ENSP00000311273:G2189V	G	-	2	0	DNAH7	196445286	1.000000	0.71417	0.972000	0.41901	0.925000	0.55904	7.546000	0.82137	2.508000	0.84585	0.650000	0.86243	GGT		0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		9	109	9	109	---	---	---	---
ERICH6	131831	broad.mit.edu	37	3	150404109	150404109	+	Missense_Mutation	SNP	C	C	G	rs112279628		TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr3:150404109C>G	ENST00000295910.6	-	4	638	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	FAM194A_ENST00000491361.1_Missense_Mutation_p.E50Q	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCCAGACATTCAGGTTCAGCT	0.388																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(586-588)Gaa>Caa		family with sequence similarity 194, member A							146.0	142.0	144.0					3																	150404109		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150404109C>G																												ENST00000295910.6:c.586G>C	3.37:g.150404109C>G	ENSP00000295910:p.Glu196Gln					FAM194A_ENST00000491361.1_Missense_Mutation_p.E50Q	p.E196Q	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			4	638	-			196						Missense_Mutation	SNP	ENST00000295910.6	37	c.586G>C	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	C	1.981	-0.434029	0.04669	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.14893	2.67;2.47	3.41	-0.987	0.10249	.	1.447720	0.04675	N	0.411383	T	0.13200	0.0320	L	0.38531	1.155	0.09310	N	1	B	0.22346	0.068	B	0.20767	0.031	T	0.31308	-0.9948	10	0.30854	T	0.27	-5.703	5.1032	0.14770	0.0:0.4403:0.3155:0.2442	.	196	Q7L0X2	F194A_HUMAN	Q	196;50;154	ENSP00000295910:E196Q;ENSP00000419366:E50Q	ENSP00000295910:E196Q	E	-	1	0	FAM194A	151886799	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.478000	0.06575	-0.531000	0.06340	-2.734000	0.00129	GAA		0.388	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			19	78	19	78	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56304467	56304467	+	Silent	SNP	T	T	G			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr4:56304467T>G	ENST00000309964.4	-	21	2593	c.2343A>C	c.(2341-2343)ccA>ccC	p.P781P	CLOCK_ENST00000513440.1_Silent_p.P781P|CLOCK_ENST00000381322.1_Silent_p.P781P	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	781	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ATTGTTGCGGTGGCTGGGTCA	0.468																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2341-2343)ccA>ccC		clock circadian regulator							57.0	56.0	56.0					4																	56304467		2203	4300	6503	SO:0001819	synonymous_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304467T>G	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2343A>C	4.37:g.56304467T>G						CLOCK_ENST00000513440.1_Silent_p.P781P|CLOCK_ENST00000381322.1_Silent_p.P781P	p.P781P	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2593	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		781					A0AV01|A2I2N9|O14516|Q9UIT8	Silent	SNP	ENST00000309964.4	37	c.2343A>C	CCDS3500.1																																																																																				0.468	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		25	44	25	44	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155219735	155219735	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr4:155219735G>T	ENST00000357232.4	-	18	4365	c.4366C>A	c.(4366-4368)Cca>Aca	p.P1456T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1456	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCCTAGGTGGATCTCCCAGG	0.458																																						ENST00000357232.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(4366-4368)Cca>Aca		dachsous cadherin-related 2							118.0	125.0	122.0					4																	155219735		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219735G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4366C>A	4.37:g.155219735G>T	ENSP00000349768:p.Pro1456Thr						p.P1456T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4365	-	all_hematologic(180;0.208)	Renal(120;0.0854)				Cadherin 12.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.4366C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	7.772	0.707721	0.15239	.	.	ENSG00000197410	ENST00000357232	T	0.56275	0.47	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.69655	0.3135	M	0.82630	2.6	0.80722	D	1	D	0.57899	0.981	P	0.58077	0.832	T	0.69465	-0.5138	10	0.38643	T	0.18	.	14.5093	0.67774	0.0701:0.0:0.9299:0.0	.	1456	Q6V1P9	PCD23_HUMAN	T	1456	ENSP00000349768:P1456T	ENSP00000349768:P1456T	P	-	1	0	DCHS2	155439185	1.000000	0.71417	0.352000	0.25734	0.089000	0.18198	3.612000	0.54142	2.880000	0.98712	0.650000	0.86243	CCA		0.458	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		49	97	49	97	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24535310	24535310	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:24535310A>G	ENST00000264463.4	-	5	1232	c.725T>C	c.(724-726)aTg>aCg	p.M242T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	242	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGGCCGCCCATGTCTTTGGC	0.478										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(724-726)aTg>aCg		cadherin 10, type 2 (T2-cadherin)							197.0	155.0	169.0					5																	24535310		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535310A>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.725T>C	5.37:g.24535310A>G	ENSP00000264463:p.Met242Thr	HNSCC(23;0.051)					p.M242T	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	5	1232	-			242			Cadherin 2.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.725T>C	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.297157	0.81025	.	.	ENSG00000040731	ENST00000264463	T	0.50277	0.75	5.6	5.6	0.85130	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66906	0.2837	M	0.67700	2.07	0.54753	D	0.99998	D	0.76494	0.999	D	0.77557	0.99	T	0.70178	-0.4943	10	0.72032	D	0.01	.	14.9537	0.71094	1.0:0.0:0.0:0.0	.	242	Q9Y6N8	CAD10_HUMAN	T	242	ENSP00000264463:M242T	ENSP00000264463:M242T	M	-	2	0	CDH10	24571067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.131000	0.65755	0.482000	0.46254	ATG		0.478	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		23	58	23	58	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	36976330	36976330	+	Missense_Mutation	SNP	A	A	C	rs144853101	byFrequency	TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:36976330A>C	ENST00000282516.8	+	9	1820	c.1321A>C	c.(1321-1323)Act>Cct	p.T441P	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.T441P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	441	Gln-rich.				brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACAACAGAACACTTCAGTTGC	0.413																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(1321-1323)Act>Cct		Nipped-B homolog (Drosophila)							82.0	83.0	82.0					5																	36976330		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36976330A>C	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1321A>C	5.37:g.36976330A>C	ENSP00000282516:p.Thr441Pro					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.T441P	p.T441P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	1820	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		441			Gln-rich.		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.1321A>C	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590155	0.46214	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93604	-3.25;-3.25	5.58	5.58	0.84498	.	0.118449	0.64402	D	0.000014	D	0.88680	0.6502	N	0.19112	0.55	0.33025	D	0.529433	P;P	0.45827	0.79;0.867	B;B	0.41813	0.202;0.367	D	0.91968	0.5584	10	0.51188	T	0.08	.	15.7445	0.77929	1.0:0.0:0.0:0.0	.	441;441	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	P	441	ENSP00000282516:T441P;ENSP00000406266:T441P	ENSP00000282516:T441P	T	+	1	0	NIPBL	37012087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.294000	0.43567	2.133000	0.65898	0.377000	0.23210	ACT		0.413	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		27	59	27	59	---	---	---	---
C6	729	broad.mit.edu	37	5	41161838	41161838	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:41161838C>A	ENST00000263413.3	-	10	1679	c.1415G>T	c.(1414-1416)tGg>tTg	p.W472L	C6_ENST00000337836.5_Missense_Mutation_p.W472L|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	472	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGATTCTAACCACTCAGAAAA	0.428																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1414-1416)tGg>tTg		complement component 6							143.0	141.0	142.0					5																	41161838		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41161838C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1415G>T	5.37:g.41161838C>A	ENSP00000263413:p.Trp472Leu					C6_ENST00000337836.5_Missense_Mutation_p.W472L|C6_ENST00000475349.1_5'UTR	p.W472L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			10	1679	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	472			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1415G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000211	0.93227	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.97114	-4.25;-4.25	5.35	5.35	0.76521	Membrane attack complex component/perforin (MACPF) domain (3);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99297	1.0900	10	0.87932	D	0	-17.798	19.6142	0.95626	0.0:1.0:0.0:0.0	.	472	P13671	CO6_HUMAN	L	472	ENSP00000338861:W472L;ENSP00000263413:W472L	ENSP00000263413:W472L	W	-	2	0	C6	41197595	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.828000	0.75308	2.941000	0.99782	0.655000	0.94253	TGG		0.428	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			5	111	5	111	---	---	---	---
ANKRD55	79722	broad.mit.edu	37	5	55407577	55407577	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:55407577C>T	ENST00000341048.4	-	10	1149	c.998G>A	c.(997-999)aGc>aAc	p.S333N	ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.S290N|ANKRD55_ENST00000434982.2_Missense_Mutation_p.S45N	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	333										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GGGCCGACTGCTCTGGGAGGG	0.488																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(997-999)aGc>aAc		ankyrin repeat domain 55							107.0	106.0	106.0					5																	55407577		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55407577C>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.998G>A	5.37:g.55407577C>T	ENSP00000342295:p.Ser333Asn					ANKRD55_ENST00000504958.2_Missense_Mutation_p.S290N|ANKRD55_ENST00000434982.2_Missense_Mutation_p.S45N|ANKRD55_ENST00000505970.2_5'UTR	p.S333N	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			10	1149	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	332					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.998G>A	CCDS34161.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.781|0.781	-0.762368|-0.762368	0.02996|0.02996	.|.	.|.	ENSG00000164512|ENSG00000164512	ENST00000505970|ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	.|T;T;T	.|0.35605	.|1.48;1.3;1.88	5.49|5.49	0.374|0.374	0.16183|0.16183	.|Ankyrin repeat-containing domain (1);	.|0.328981	.|0.30639	.|N	.|0.009181	T|T	0.11196|0.11196	0.0273|0.0273	N|N	0.02247|0.02247	-0.625|-0.625	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.35847|0.35847	-0.9772|-0.9772	6|10	0.16896|0.05959	T|T	0.51|0.93	.|.	9.3217|9.3217	0.37968|0.37968	0.0:0.3615:0.0:0.6385|0.0:0.3615:0.0:0.6385	.|.	.|333;332	.|B3KVT8;Q3KP44	.|.;ANR55_HUMAN	T|N	78|333;333;290;45	.|ENSP00000342295:S333N;ENSP00000424230:S290N;ENSP00000429421:S45N	ENSP00000422370:A78T|ENSP00000342295:S333N	A|S	-|-	1|2	0|0	ANKRD55|ANKRD55	55443334|55443334	0.972000|0.972000	0.33761|0.33761	0.002000|0.002000	0.10522|0.10522	0.874000|0.874000	0.50279|0.50279	1.077000|1.077000	0.30741|0.30741	-0.082000|-0.082000	0.12640|0.12640	-0.312000|-0.312000	0.09012|0.09012	GCA|AGC		0.488	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		11	207	11	207	---	---	---	---
POU5F2	134187	broad.mit.edu	37	5	93077212	93077212	+	Missense_Mutation	SNP	C	C	T	rs575553090		TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:93077212C>T	ENST00000510627.4	-	1	131	c.58G>A	c.(58-60)Ggc>Agc	p.G20S	POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	20					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CCTCTGGGGCCGCCCCCACCA	0.687													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14667	0.0		0.0	False		,,,				2504	0.0					ENST00000510627.4																			0											c.(58-60)Ggc>Agc		POU domain class 5, transcription factor 2							12.0	16.0	15.0					5																	93077212		1889	4101	5990	SO:0001583	missense	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93077212C>T		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.58G>A	5.37:g.93077212C>T	ENSP00000464890:p.Gly20Ser					FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron	p.G20S	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	131	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	20					Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	c.58G>A	CCDS59489.1																																																																																				0.687	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		14	9	14	9	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519322	113519322	+	Missense_Mutation	SNP	C	C	T	rs144397367		TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr7:113519322C>T	ENST00000284601.3	-	4	1893	c.1825G>A	c.(1825-1827)Gct>Act	p.A609T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	609					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTCCTAAAGCGCTGCCTTCA	0.403																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1825-1827)Gct>Act		protein phosphatase 1, regulatory subunit 3A		C	THR/ALA	0,4406		0,0,2203	115.0	111.0	112.0		1825	-12.0	0.0	7	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPP1R3A	NM_002711.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	609/1123	113519322	1,13005	2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519322C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1825G>A	7.37:g.113519322C>T	ENSP00000284601:p.Ala609Thr						p.A609T	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1893	-			609					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1825G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.059	-1.228281	0.01518	0.0	1.16E-4	ENSG00000154415	ENST00000284601	T	0.14266	2.52	6.02	-12.0	0.00017	.	2.198090	0.01457	N	0.015715	T	0.06462	0.0166	N	0.20685	0.6	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.18903	-1.0322	10	0.10111	T	0.7	-0.5299	8.0274	0.30444	0.0614:0.3295:0.3891:0.22	.	609	Q16821	PPR3A_HUMAN	T	609	ENSP00000284601:A609T	ENSP00000284601:A609T	A	-	1	0	PPP1R3A	113306558	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.556000	0.00432	-4.519000	0.00044	-1.913000	0.00520	GCT		0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		15	131	15	131	---	---	---	---
SUPV3L1	6832	broad.mit.edu	37	10	70940179	70940179	+	Silent	SNP	C	C	T			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr10:70940179C>T	ENST00000359655.4	+	1	192	c.132C>T	c.(130-132)gtC>gtT	p.V44V	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	44					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGTTTCTGTCCTTGCCACCG	0.667																																						ENST00000359655.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(130-132)gtC>gtT		suppressor of var1, 3-like 1 (S. cerevisiae)							54.0	60.0	58.0					10																	70940179		2203	4300	6503	SO:0001819	synonymous_variant	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70940179C>T	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.132C>T	10.37:g.70940179C>T						SUPV3L1_ENST00000483572.1_3'UTR	p.V44V	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			1	192	+			44					A8K301|O43630	Silent	SNP	ENST00000359655.4	37	c.132C>T	CCDS7287.1																																																																																				0.667	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		28	77	28	77	---	---	---	---
KCNK18	338567	broad.mit.edu	37	10	118969534	118969534	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr10:118969534C>A	ENST00000334549.1	+	3	879	c.879C>A	c.(877-879)taC>taA	p.Y293*		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	293					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTTTTGCCTACATTTCCTGTG	0.498																																						ENST00000334549.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(877-879)taC>taA		potassium channel, subfamily K, member 18							249.0	211.0	224.0					10																	118969534		2203	4300	6503	SO:0001587	stop_gained	338567					integral to membrane|plasma membrane		g.chr10:118969534C>A	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.879C>A	10.37:g.118969534C>A	ENSP00000334650:p.Tyr293*						p.Y293*	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	879	+		Colorectal(252;0.19)	293					Q5SQQ8	Nonsense_Mutation	SNP	ENST00000334549.1	37	c.879C>A	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737231	0.89482	.	.	ENSG00000186795	ENST00000334549	.	.	.	5.4	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4343	0.44426	0.0:0.8513:0.0:0.1487	.	.	.	.	X	293	.	ENSP00000334650:Y293X	Y	+	3	2	KCNK18	118959524	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.993000	0.40747	1.428000	0.47296	0.655000	0.94253	TAC		0.498	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		9	152	9	152	---	---	---	---
PDZD8	118987	broad.mit.edu	37	10	119078421	119078421	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr10:119078421T>C	ENST00000334464.5	-	3	1299	c.1060A>G	c.(1060-1062)Agt>Ggt	p.S354G		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	354					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCCCAAACACTACTGCTTAAC	0.328																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(1060-1062)Agt>Ggt		PDZ domain containing 8							118.0	115.0	116.0					10																	119078421		2203	4299	6502	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119078421T>C	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1060A>G	10.37:g.119078421T>C	ENSP00000334642:p.Ser354Gly						p.S354G	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	3	1299	-		Colorectal(252;0.19)	354					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.1060A>G	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	T	1.176	-0.639544	0.03557	.	.	ENSG00000165650	ENST00000334464	D	0.85556	-2.0	5.38	-0.298	0.12814	.	0.748210	0.13462	N	0.386089	T	0.69278	0.3093	L	0.27053	0.805	0.23700	N	0.997071	B	0.02656	0.0	B	0.01281	0.0	T	0.50617	-0.8807	10	0.11485	T	0.65	-2.6875	5.3151	0.15850	0.1364:0.3695:0.0:0.4941	.	354	Q8NEN9	PDZD8_HUMAN	G	354	ENSP00000334642:S354G	ENSP00000334642:S354G	S	-	1	0	PDZD8	119068411	0.887000	0.30362	0.997000	0.53966	0.447000	0.32167	-0.172000	0.09868	0.030000	0.15379	-0.924000	0.02725	AGT		0.328	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		22	38	22	38	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57069307	57069307	+	Missense_Mutation	SNP	G	G	A	rs373036277		TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr11:57069307G>A	ENST00000532437.1	-	8	5256	c.4945C>T	c.(4945-4947)Cct>Tct	p.P1649S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1649S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1649	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCAGGCCAGGAAAGAGGTTG	0.557																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4945-4947)Cct>Tct		tankyrase 1 binding protein 1, 182kDa							107.0	92.0	97.0					11																	57069307		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57069307G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4945C>T	11.37:g.57069307G>A	ENSP00000437271:p.Pro1649Ser					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1649S	p.P1649S			Q9C0C2	TB182_HUMAN			8	5256	-		all_epithelial(135;0.21)	1649			Arg/Glu/Lys-rich (charged).		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.4945C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213797	0.79352	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	D;D	0.82984	-1.67;-1.67	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	M	0.64997	1.995	0.47374	D	0.999405	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90598	0.4542	10	0.87932	D	0	-11.2531	15.0981	0.72250	0.0:0.0:1.0:0.0	.	1649;231	Q9C0C2;Q86TK2	TB182_HUMAN;.	S	1649	ENSP00000350990:P1649S;ENSP00000437271:P1649S	ENSP00000350990:P1649S	P	-	1	0	TNKS1BP1	56825883	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.588000	0.67517	2.290000	0.77057	0.561000	0.74099	CCT		0.557	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		15	34	15	34	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711128	6711128	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr12:6711128T>C	ENST00000357008.2	-	4	599	c.436A>G	c.(436-438)Aag>Gag	p.K146E	CHD4_ENST00000309577.6_Missense_Mutation_p.K146E|CHD4_ENST00000544040.1_Missense_Mutation_p.K139E|CHD4_ENST00000544484.1_Missense_Mutation_p.K143E	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	146					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCAGGCACCTTTGAATCATCA	0.433																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(436-438)Aag>Gag		chromodomain helicase DNA binding protein 4							43.0	45.0	44.0					12																	6711128		2178	4279	6457	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711128T>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.436A>G	12.37:g.6711128T>C	ENSP00000349508:p.Lys146Glu					CHD4_ENST00000357008.2_Missense_Mutation_p.K146E|CHD4_ENST00000544484.1_Missense_Mutation_p.K143E|CHD4_ENST00000544040.1_Missense_Mutation_p.K139E	p.K146E			Q14839	CHD4_HUMAN			4	599	-			146					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.436A>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	6.256	0.415358	0.11870	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90324	-2.63;-2.65;-2.64;-2.65;0.81	5.73	5.73	0.89815	.	0.334814	0.31685	N	0.007231	D	0.87026	0.6075	L	0.50333	1.59	0.47476	D	0.999435	B;B;B	0.32101	0.356;0.243;0.356	B;B;B	0.33454	0.164;0.079;0.164	D	0.83946	0.0314	10	0.08837	T	0.75	0.0912	15.6955	0.77494	0.0:0.0:0.0:1.0	.	146;146;139	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	E	143;139;146;146;120;146	ENSP00000440392:K143E;ENSP00000440542:K139E;ENSP00000312419:K146E;ENSP00000349508:K146E;ENSP00000437506:K146E	ENSP00000312419:K146E	K	-	1	0	CHD4	6581389	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	2.920000	0.48844	2.190000	0.69967	0.528000	0.53228	AAG		0.433	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		9	31	9	31	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43821152	43821152	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr12:43821152G>T	ENST00000389420.3	-	27	4065	c.4066C>A	c.(4066-4068)Cca>Aca	p.P1356T	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P474T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1356T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1356	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAAGGCCCTGGACCACATTGC	0.448																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4066-4068)Cca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 20							114.0	90.0	98.0					12																	43821152		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43821152G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4066C>A	12.37:g.43821152G>T	ENSP00000374071:p.Pro1356Thr					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1356T|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P474T	p.P1356T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	27	4065	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1356			TSP type-1 9.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4066C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	3.799	-0.042018	0.07452	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.62232	0.04;0.69;0.69;0.04	4.94	-2.86	0.05717	.	0.483471	0.17194	N	0.183388	T	0.23451	0.0567	N	0.01817	-0.705	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.14023	0.002;0.01	T	0.13469	-1.0508	10	0.24483	T	0.36	.	0.9001	0.01272	0.4763:0.1239:0.1601:0.2398	.	1356;474	P59510;E9PBD5	ATS20_HUMAN;.	T	1356;486;474;1356;1356	ENSP00000374071:P1356T;ENSP00000447427:P486T;ENSP00000378911:P474T;ENSP00000448341:P1356T	ENSP00000374068:P1356T	P	-	1	0	ADAMTS20	42107419	0.994000	0.37717	0.006000	0.13384	0.517000	0.34286	2.284000	0.43478	-0.218000	0.10018	-0.355000	0.07637	CCA		0.448	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		12	41	12	41	---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56720445	56720445	+	Silent	SNP	T	T	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr12:56720445T>C	ENST00000425394.2	-	7	1594	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	PAN2_ENST00000548043.1_Silent_p.T406T|PAN2_ENST00000257931.5_Silent_p.T406T|PAN2_ENST00000440411.3_Silent_p.T406T	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CAGAGAGAAGTGTGTCAGTGG	0.587																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1216-1218)acA>acG		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							60.0	53.0	55.0					12																	56720445		2203	4299	6502	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56720445T>C	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1218A>G	12.37:g.56720445T>C						PAN2_ENST00000440411.3_Silent_p.T406T|PAN2_ENST00000257931.5_Silent_p.T406T|PAN2_ENST00000548043.1_Silent_p.T406T	p.T406T	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN			7	1594	-			406						Silent	SNP	ENST00000425394.2	37	c.1218A>G	CCDS44922.1																																																																																				0.587	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		11	25	11	25	---	---	---	---
IL22	50616	broad.mit.edu	37	12	68642636	68642636	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr12:68642636G>C	ENST00000538666.1	-	6	553	c.483C>G	c.(481-483)atC>atG	p.I161M	IL22_ENST00000328087.4_Missense_Mutation_p.I161M			Q9GZX6	IL22_HUMAN	interleukin 22	161					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		CAATTGCTTTGATCTCTCCAC	0.368																																						ENST00000538666.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14						c.(481-483)atC>atG		interleukin 22							169.0	169.0	169.0					12																	68642636		2203	4300	6503	SO:0001583	missense	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68642636G>C	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.483C>G	12.37:g.68642636G>C	ENSP00000442424:p.Ile161Met					IL22_ENST00000328087.4_Missense_Mutation_p.I161M	p.I161M			Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	6	553	-		Myeloproliferative disorder(1001;0.0255)	161						Missense_Mutation	SNP	ENST00000538666.1	37	c.483C>G	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774999	0.49786	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.45668	0.89;0.89	4.93	1.9	0.25705	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.173321	0.39759	N	0.001277	T	0.54902	0.1887	M	0.63428	1.95	0.32565	N	0.530568	D	0.71674	0.998	D	0.87578	0.998	T	0.60722	-0.7207	9	.	.	.	-24.4036	7.4388	0.27171	0.4123:0.0:0.5877:0.0	.	161	Q9GZX6	IL22_HUMAN	M	161	ENSP00000442424:I161M;ENSP00000329384:I161M	.	I	-	3	3	IL22	66928903	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.456000	0.21859	0.261000	0.21753	0.561000	0.74099	ATC		0.368	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525		7	205	7	205	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42720231	42720231	+	Silent	SNP	G	G	T			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr15:42720231G>T	ENST00000263805.4	-	12	5240	c.4914C>A	c.(4912-4914)gtC>gtA	p.V1638V	ZNF106_ENST00000565380.1_Silent_p.V866V|ZNF106_ENST00000565611.1_Silent_p.V823V|RNU6-188P_ENST00000364207.1_RNA	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1638					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGTTGAAGGTGACCACAGTGC	0.522																																						ENST00000263805.4																			0											c.(4912-4914)gtC>gtA		zinc finger protein 106							171.0	138.0	149.0					15																	42720231		2203	4299	6502	SO:0001819	synonymous_variant	64397							g.chr15:42720231G>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4914C>A	15.37:g.42720231G>T						ZNF106_ENST00000565380.1_Silent_p.V866V|ZNF106_ENST00000565611.1_Silent_p.V823V	p.V1638V	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1					12	5240	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.4914C>A	CCDS32208.1																																																																																				0.522	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		4	146	4	146	---	---	---	---
USP8	9101	broad.mit.edu	37	15	50782019	50782019	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr15:50782019A>G	ENST00000396444.3	+	13	2250	c.1912A>G	c.(1912-1914)Aga>Gga	p.R638G	USP8_ENST00000433963.1_Missense_Mutation_p.R638G|USP8_ENST00000307179.4_Missense_Mutation_p.R638G|USP8_ENST00000425032.3_Missense_Mutation_p.R532G	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	638					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ACCTTTGACAAGAGCACGAAG	0.323																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1912-1914)Aga>Gga		ubiquitin specific peptidase 8							49.0	50.0	50.0					15																	50782019		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50782019A>G	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1912A>G	15.37:g.50782019A>G	ENSP00000379721:p.Arg638Gly					USP8_ENST00000396444.3_Missense_Mutation_p.R638G|USP8_ENST00000425032.3_Missense_Mutation_p.R532G|USP8_ENST00000307179.4_Missense_Mutation_p.R638G	p.R638G			P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	14	2412	+			638					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.1912A>G	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.871737	0.72065	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.25250	1.81;1.81;1.81;2.07	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.35624	0.0938	L	0.36672	1.1	0.54753	D	0.999987	D;D	0.65815	0.995;0.988	P;P	0.60682	0.878;0.803	T	0.09509	-1.0671	10	0.62326	D	0.03	-25.2658	11.2825	0.49203	0.8474:0.1526:0.0:0.0	.	532;638	B4DKA8;P40818	.;UBP8_HUMAN	G	638;638;638;532	ENSP00000379721:R638G;ENSP00000405537:R638G;ENSP00000302239:R638G;ENSP00000412682:R532G	ENSP00000302239:R638G	R	+	1	2	USP8	48569311	0.991000	0.36638	1.000000	0.80357	0.951000	0.60555	2.436000	0.44819	2.052000	0.61016	0.477000	0.44152	AGA		0.323	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		10	23	10	23	---	---	---	---
MED13	9969	broad.mit.edu	37	17	60061727	60061727	+	Splice_Site	SNP	T	T	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr17:60061727T>C	ENST00000397786.2	-	15	2769	c.2693A>G	c.(2692-2694)gAt>gGt	p.D898G		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	898					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATAAGAAAAATCCTACAATAT	0.348																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2692-2694)gAt>gGt		mediator complex subunit 13							40.0	38.0	38.0					17																	60061727		1792	4061	5853	SO:0001630	splice_region_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60061727T>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2692-1A>G	17.37:g.60061727T>C							p.D898G	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			15	2769	-			898					B2RU05|O60334	Splice_Site	SNP	ENST00000397786.2	37	c.2693A>G	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228772	0.79576	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82081	-1.57	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.91586	0.7342	M	0.83384	2.64	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.92630	0.6115	10	0.72032	D	0.01	-12.9496	16.1685	0.81786	0.0:0.0:0.0:1.0	.	898	Q9UHV7	MED13_HUMAN	G	898;897	ENSP00000380888:D898G	ENSP00000262436:D897G	D	-	2	0	MED13	57416509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.586000	0.82596	2.225000	0.72522	0.528000	0.53228	GAT		0.348	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	Missense_Mutation	15	31	15	31	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73487841	73487841	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr17:73487841C>T	ENST00000314256.7	+	14	1850	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C	KIAA0195_ENST00000579208.1_Missense_Mutation_p.R137C|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R496C	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	486						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAGCAGGAGCGTGGCGACTG	0.617																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(1456-1458)Cgt>Tgt		KIAA0195							73.0	69.0	70.0					17																	73487841		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73487841C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1456C>T	17.37:g.73487841C>T	ENSP00000313885:p.Arg486Cys					KIAA0195_ENST00000579208.1_Missense_Mutation_p.R137C|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R496C	p.R486C	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		14	1850	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		486					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.1456C>T	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584565	0.28268	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.47869	0.83;0.83	5.69	3.52	0.40303	.	0.502893	0.21321	N	0.076478	T	0.30665	0.0772	N	0.22421	0.69	0.33932	D	0.642144	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.35450	-0.9788	10	0.56958	D	0.05	-1.4478	6.8104	0.23801	0.1947:0.6394:0.0:0.1659	.	496;496;486	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	C	486;496	ENSP00000313885:R486C;ENSP00000364397:R496C	ENSP00000313885:R486C	R	+	1	0	KIAA0195	70999436	1.000000	0.71417	0.875000	0.34327	0.844000	0.47949	1.283000	0.33237	1.424000	0.47217	0.561000	0.74099	CGT		0.617	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		11	29	11	29	---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14268133	14268133	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr19:14268133T>C	ENST00000340736.6	-	15	2987	c.2690A>G	c.(2689-2691)aAg>aGg	p.K897R	LPHN1_ENST00000361434.3_Missense_Mutation_p.K892R|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	897					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCACAGGTTCTTGTGGATGGT	0.597																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2689-2691)aAg>aGg		latrophilin 1							164.0	151.0	155.0					19																	14268133		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14268133T>C	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2690A>G	19.37:g.14268133T>C	ENSP00000340688:p.Lys897Arg					LPHN1_ENST00000361434.3_Missense_Mutation_p.K892R|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	p.K897R	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			15	2987	-			897					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.2690A>G	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831158	0.71258	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.36878	1.23;1.23	4.62	4.62	0.57501	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.54255	0.1847	L	0.58669	1.825	0.50313	D	0.999863	D;D	0.89917	1.0;1.0	D;D	0.81914	0.986;0.995	T	0.57516	-0.7798	10	0.72032	D	0.01	.	12.2761	0.54735	0.0:0.0:0.0:1.0	.	892;897	O94910-2;O94910	.;LPHN1_HUMAN	R	897;892	ENSP00000340688:K897R;ENSP00000355328:K892R	ENSP00000340688:K897R	K	-	2	0	LPHN1	14129133	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.154000	0.71826	1.837000	0.53436	0.402000	0.26972	AAG		0.597	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		30	92	30	92	---	---	---	---
ITCH	83737	broad.mit.edu	37	20	33068460	33068460	+	Silent	SNP	T	T	A			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr20:33068460T>A	ENST00000262650.6	+	20	2134	c.1998T>A	c.(1996-1998)cgT>cgA	p.R666R	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000374864.4_Silent_p.R625R|ITCH_ENST00000535650.1_Silent_p.R515R			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	666	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TCTATAAGCGTATCTTGAACA	0.338																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1873-1875)cgT>cgA		itchy E3 ubiquitin protein ligase							100.0	104.0	103.0					20																	33068460		2202	4300	6502	SO:0001819	synonymous_variant	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33068460T>A	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1998T>A	20.37:g.33068460T>A						ITCH_ENST00000262650.6_Silent_p.R666R|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Silent_p.R515R	p.R625R	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			19	2088	+			666			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	ENST00000262650.6	37	c.1875T>A	CCDS58768.1																																																																																				0.338	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			48	119	48	119	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29924168	29924168	+	Splice_Site	SNP	T	T	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr22:29924168T>C	ENST00000490103.1	-	11	1089		c.e11-2		THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGGCGCTTCTGGACAAAGGA	0.572																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e11-2		THO complex 5							79.0	73.0	75.0					22																	29924168		2203	4300	6503	SO:0001630	splice_region_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29924168T>C	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.967-2A>G	22.37:g.29924168T>C						THOC5_ENST00000397871.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site		NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			11	1089	-								O60839|Q9UPZ5	Splice_Site	SNP	ENST00000490103.1	37		CCDS13859.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.830526	0.71258	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000443089	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3948	0.67003	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	THOC5	28254168	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.040000	0.76551	1.986000	0.57962	0.451000	0.29950	.		0.572	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Intron	23	44	23	44	---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50720454	50720454	+	Silent	SNP	C	C	G			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr22:50720454C>G	ENST00000449103.1	-	20	3314	c.3174G>C	c.(3172-3174)ccG>ccC	p.P1058P	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Silent_p.P1058P			O15031	PLXB2_HUMAN	plexin B2	1058	IPT/TIG 3.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGCACAGCCGGGGACAGGA	0.647																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3172-3174)ccG>ccC		plexin B2							48.0	55.0	53.0					22																	50720454		2117	4227	6344	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50720454C>G		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3174G>C	22.37:g.50720454C>G						PLXNB2_ENST00000359337.4_Silent_p.P1058P	p.P1058P			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	20	3314	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1058			IPT/TIG 3.		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.3174G>C	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	1.959	-0.439244	0.04636	.	.	ENSG00000196576	ENST00000427829	.	.	.	4.63	-0.817	0.10836	.	.	.	.	.	T	0.19127	0.0459	.	.	.	0.22199	N	0.99929	.	.	.	.	.	.	T	0.23940	-1.0174	4	.	.	.	.	1.1284	0.01740	0.2962:0.2121:0.3418:0.1499	.	.	.	.	P	76	.	.	R	-	2	0	PLXNB2	49062581	0.068000	0.21057	0.994000	0.49952	0.225000	0.24961	-0.493000	0.06459	0.121000	0.18284	0.313000	0.20887	CGG		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		13	26	13	26	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061202	38061208	+	Frame_Shift_Del	DEL	GGCGGCG	GGCGGCG	-			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr14:38061202_38061208delGGCGGCG	ENST00000250448.2	-	2	842_848	c.781_787delCGCCGCC	c.(781-789)cgccgccagfs	p.RRQ261fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Del_p.RRQ228fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	261					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGCGCTTCTGGCGGCGCAAGTAGCAG	0.71																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(781-789)cgccgccagfs		forkhead box A1																																				SO:0001589	frameshift_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061202_38061208delGGCGGCG	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.781_787delCGCCGCC	14.37:g.38061202_38061208delGGCGGCG	ENSP00000250448:p.Arg261fs					FOXA1_ENST00000540786.1_Frame_Shift_Del_p.RRQ228fs|FOXA1_ENST00000545425.2_5'UTR	p.RRQ261fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	842_848	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		261					B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Del	DEL	ENST00000250448.2	37	c.781_787delCGCCGCC	CCDS9665.1																																																																																				0.710	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			8	27	8	27	---	---	---	---
