#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FRMD4A	55691	broad.mit.edu	37	10	13712496	13712496	+	Silent	SNP	G	G	A			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr10:13712496G>A	ENST00000357447.2	-	17	1652	c.1284C>T	c.(1282-1284)ccC>ccT	p.P428P	FRMD4A_ENST00000378503.1_Silent_p.P428P|FRMD4A_ENST00000358621.4_Silent_p.P413P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	428					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTGGATCCAGGGGATATTCTA	0.517																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1282-1284)ccC>ccT		FERM domain containing 4A							143.0	138.0	140.0					10																	13712496		2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13712496G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1284C>T	10.37:g.13712496G>A						FRMD4A_ENST00000358621.4_Silent_p.P413P|FRMD4A_ENST00000378503.1_Silent_p.P428P	p.P428P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			17	1652	-			428					A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.1284C>T	CCDS7101.1																																																																																				0.517	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		19	39	0	0	0	1	0	19	39				
XDH	7498	broad.mit.edu	37	2	31573040	31573040	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr2:31573040T>C	ENST00000379416.3	-	25	2729	c.2681A>G	c.(2680-2682)aAc>aGc	p.N894S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	894					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GCCCCGGATGTTGGGGATTTT	0.537																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(2680-2682)aAc>aGc		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						87.0	95.0	92.0					2																	31573040		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31573040T>C	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2681A>G	2.37:g.31573040T>C	ENSP00000368727:p.Asn894Ser						p.N894S	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			25	2729	-	Acute lymphoblastic leukemia(172;0.155)		894					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2681A>G	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177855	0.57692	.	.	ENSG00000158125	ENST00000379416	T	0.51574	0.7	5.85	5.85	0.93711	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	M	0.79258	2.445	0.80722	D	1	D	0.60160	0.987	D	0.63033	0.91	T	0.72020	-0.4416	10	0.66056	D	0.02	.	15.8979	0.79350	0.0:0.0:0.0:1.0	.	894	P47989	XDH_HUMAN	S	894	ENSP00000368727:N894S	ENSP00000368727:N894S	N	-	2	0	XDH	31426544	1.000000	0.71417	0.995000	0.50966	0.010000	0.07245	6.254000	0.72460	2.230000	0.72887	0.528000	0.53228	AAC		0.537	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		14	58	0	0	0	1	0	14	58				
SCN10A	6336	broad.mit.edu	37	3	38781061	38781061	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr3:38781061A>G	ENST00000449082.2	-	14	2224	c.2225T>C	c.(2224-2226)cTa>cCa	p.L742P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	742					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCCAGCTCTAGCAGACTCAC	0.478																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2224-2226)cTa>cCa		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						69.0	63.0	65.0					3																	38781061		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38781061A>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2225T>C	3.37:g.38781061A>G	ENSP00000390600:p.Leu742Pro						p.L742P	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	14	2224	-			742					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2225T>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379384	0.61845	.	.	ENSG00000185313	ENST00000449082	D	0.98849	-5.18	4.19	4.19	0.49359	Ion transport (1);	0.346611	0.30752	N	0.008953	D	0.98698	0.9563	M	0.83118	2.625	0.80722	D	1	P	0.49961	0.93	P	0.54629	0.757	D	0.99308	1.0903	10	0.87932	D	0	.	13.4132	0.60954	1.0:0.0:0.0:0.0	.	742	Q9Y5Y9	SCNAA_HUMAN	P	742	ENSP00000390600:L742P	ENSP00000390600:L742P	L	-	2	0	SCN10A	38756065	0.935000	0.31712	0.977000	0.42913	0.972000	0.66771	7.239000	0.78182	1.765000	0.52091	0.533000	0.62120	CTA		0.478	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		17	25	0	0	0	1	0	17	25				
PPFIA2	8499	broad.mit.edu	37	12	81741405	81741405	+	Silent	SNP	C	C	A			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr12:81741405C>A	ENST00000549396.1	-	18	2299	c.2139G>T	c.(2137-2139)ctG>ctT	p.L713L	PPFIA2_ENST00000549325.1_Silent_p.L695L|PPFIA2_ENST00000333447.7_Silent_p.L695L|PPFIA2_ENST00000443686.3_Silent_p.L614L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Silent_p.L713L|PPFIA2_ENST00000407050.4_Silent_p.L639L|PPFIA2_ENST00000552948.1_Silent_p.L713L|PPFIA2_ENST00000550359.2_Silent_p.L560L|PPFIA2_ENST00000541570.2_Silent_p.L280L|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000548586.1_Silent_p.L713L	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	713					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGAACTGGCCAGCGATGAAG	0.532																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2137-2139)ctG>ctT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							147.0	154.0	151.0					12																	81741405		2000	4154	6154	SO:0001819	synonymous_variant	8499							g.chr12:81741405C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2139G>T	12.37:g.81741405C>A						PPFIA2_ENST00000548586.1_Silent_p.L713L|PPFIA2_ENST00000541570.2_Silent_p.L280L|PPFIA2_ENST00000552948.1_Silent_p.L713L|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Silent_p.L560L|PPFIA2_ENST00000443686.3_Silent_p.L614L|PPFIA2_ENST00000549325.1_Silent_p.L695L|PPFIA2_ENST00000549396.1_Silent_p.L713L|PPFIA2_ENST00000407050.4_Silent_p.L639L|PPFIA2_ENST00000333447.7_Silent_p.L695L	p.L713L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			17	2434	-			639					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.2139G>T	CCDS55857.1																																																																																				0.532	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			8	102	1	0	0.00621372	1	0.00648388	8	102				
SMTN	6525	broad.mit.edu	37	22	31484930	31484930	+	Missense_Mutation	SNP	C	C	A	rs188312885	byFrequency	TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr22:31484930C>A	ENST00000347557.2	+	6	664	c.446C>A	c.(445-447)gCg>gAg	p.A149E	SMTN_ENST00000358743.1_Missense_Mutation_p.A149E|SMTN_ENST00000333137.7_Missense_Mutation_p.A149E	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	149					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AAGGGGCTAGCGGCACACAGG	0.607											OREG0026472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(445-447)gCg>gAg		smoothelin							104.0	90.0	95.0					22																	31484930		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31484930C>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.446C>A	22.37:g.31484930C>A	ENSP00000328635:p.Ala149Glu		OREG0026472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	825	SMTN_ENST00000347557.2_Missense_Mutation_p.A149E|SMTN_ENST00000358743.1_Missense_Mutation_p.A149E	p.A149E	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			6	664	+			149					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.446C>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432241	0.25813	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000416786;ENST00000431481	T;T;T	0.71698	-0.17;-0.58;-0.59	4.76	-0.0642	0.13773	.	0.206982	0.24436	N	0.038558	T	0.57902	0.2085	L	0.29908	0.895	0.09310	N	0.999995	P;P;B;P;P;P	0.47409	0.894;0.769;0.002;0.895;0.769;0.852	B;B;B;B;B;P	0.46452	0.319;0.218;0.002;0.409;0.319;0.517	T	0.53606	-0.8415	10	0.66056	D	0.02	-0.5588	6.4987	0.22155	0.0:0.657:0.1527:0.1903	.	205;203;141;149;149;149	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	E	149;149;149;149;141;61;141	ENSP00000351593:A149E;ENSP00000328635:A149E;ENSP00000329532:A149E	ENSP00000329393:A149E	A	+	2	0	SMTN	29814930	0.002000	0.14202	0.037000	0.18230	0.021000	0.10359	0.598000	0.24074	0.190000	0.20209	-1.149000	0.01842	GCG		0.607	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		3	27	1	0	6.4e-05	1	6.98182e-05	3	27				
GPR98	84059	broad.mit.edu	37	5	90074890	90074890	+	Missense_Mutation	SNP	T	T	G			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr5:90074890T>G	ENST00000405460.2	+	64	13154	c.13058T>G	c.(13057-13059)aTt>aGt	p.I4353S	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4353	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTCTAACAATTACAAAGGTG	0.423																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(13057-13059)aTt>aGt		G protein-coupled receptor 98							31.0	30.0	30.0					5																	90074890		1831	4095	5926	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90074890T>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13058T>G	5.37:g.90074890T>G	ENSP00000384582:p.Ile4353Ser						p.I4353S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	64	13154	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4353			Calx-beta 29.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.13058T>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.087527	0.76642	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.38722	1.12	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (2);	0.187549	0.56097	D	0.000038	T	0.54951	0.1890	M	0.87971	2.92	0.80722	D	1	P	0.36354	0.549	B	0.38985	0.287	T	0.63233	-0.6683	10	0.87932	D	0	.	16.1508	0.81622	0.0:0.0:0.0:1.0	.	4353	Q8WXG9	GPR98_HUMAN	S	4353	ENSP00000384582:I4353S	ENSP00000296619:I4353S	I	+	2	0	GPR98	90110646	1.000000	0.71417	0.223000	0.23860	0.739000	0.42172	7.230000	0.78097	2.207000	0.71202	0.528000	0.53228	ATT		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	20	0	0	0	1	0	3	20				
SPTA1	6708	broad.mit.edu	37	1	158582669	158582669	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr1:158582669C>T	ENST00000368147.4	-	51	7252	c.7072G>A	c.(7072-7074)Gag>Aag	p.E2358K	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2358	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGGCATTCTCTATTTCATCA	0.468																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(7072-7074)Gag>Aag		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							121.0	118.0	119.0					1																	158582669		1944	4149	6093	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158582669C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.7072G>A	1.37:g.158582669C>T	ENSP00000357129:p.Glu2358Lys					SPTA1_ENST00000368147.3_Missense_Mutation_p.E2355K	p.E2358K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			51	7252	-	all_hematologic(112;0.0378)		2358			EF-hand 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.7072G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778270	0.90195	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.21031	2.03;2.03	5.39	5.39	0.77823	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.32563	N	0.005934	T	0.32194	0.0821	L	0.45285	1.41	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.02053	-1.1222	10	0.66056	D	0.02	.	17.8981	0.88895	0.0:1.0:0.0:0.0	.	2358	P02549	SPTA1_HUMAN	K	2358;2355	ENSP00000357130:E2358K;ENSP00000357129:E2355K	ENSP00000357129:E2355K	E	-	1	0	SPTA1	156849293	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	6.962000	0.76048	2.795000	0.96236	0.655000	0.94253	GAG		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		12	30	0	0	0	1	0	12	30				
RBM33	155435	broad.mit.edu	37	7	155503998	155503998	+	Silent	SNP	G	G	A			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr7:155503998G>A	ENST00000401878.3	+	8	1248	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	350	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TGCAGCACCCGCACCACCCAT	0.682																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1048-1050)ccG>ccA		RNA binding motif protein 33							43.0	53.0	50.0					7																	155503998		2062	4197	6259	SO:0001819	synonymous_variant	155435						nucleotide binding|RNA binding	g.chr7:155503998G>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1050G>A	7.37:g.155503998G>A						RBM33_ENST00000486747.1_3'UTR	p.P350P	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	8	1248	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	350			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	c.1050G>A	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	3.126	-0.179450	0.06380	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.1	-0.991	0.10235	.	.	.	.	.	T	0.39809	0.1092	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	.	1.3921	0.02253	0.3056:0.2323:0.3342:0.1279	.	.	.	.	H	122	.	.	R	+	2	0	RBM33	155196759	0.003000	0.15002	0.970000	0.41538	0.162000	0.22319	-1.502000	0.02279	-0.070000	0.12908	0.557000	0.71058	CGC		0.682	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		3	34	0	0	0	1	0	3	34				
TLE1	7088	broad.mit.edu	37	9	84228341	84228341	+	Silent	SNP	A	A	G			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr9:84228341A>G	ENST00000376499.3	-	12	2078	c.1014T>C	c.(1012-1014)cgT>cgC	p.R338R	TLE1_ENST00000376472.1_Silent_p.R13R|TLE1_ENST00000376484.1_Silent_p.R13R|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	338	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CGAGACCTGGACGGAGGCCTG	0.592																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1012-1014)cgT>cgC		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							92.0	91.0	91.0					9																	84228341		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84228341A>G		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1014T>C	9.37:g.84228341A>G						TLE1_ENST00000376472.1_Silent_p.R13R|TLE1_ENST00000376484.1_Silent_p.R13R|TLE1_ENST00000464999.1_5'UTR	p.R338R	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			12	2078	-			338			Pro/Ser-rich.		A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.1014T>C	CCDS6661.1																																																																																				0.592	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		3	45	0	0	0	1	0	3	45				
UGT2B4	7363	broad.mit.edu	37	4	70346370	70346370	+	Silent	SNP	C	C	T			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr4:70346370C>T	ENST00000305107.6	-	6	1615	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.K387K|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	523					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TTTTCCCCTTCTTTCCTGTTC	0.408																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1567-1569)aaG>aaA		UDP glucuronosyltransferase 2 family, polypeptide B4							145.0	145.0	145.0					4																	70346370		2203	4300	6503	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346370C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1569G>A	4.37:g.70346370C>T						UGT2B4_ENST00000381096.3_Silent_p.K387K|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR	p.K523K	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			6	1615	-			523					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.1569G>A	CCDS43234.1																																																																																				0.408	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		18	83	0	0	0	1	0	18	83				
FGFR1	2260	broad.mit.edu	37	8	38274849	38274849	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr8:38274849G>T	ENST00000447712.2	-	12	2579	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	546	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.N546K(4)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCCCAGCAGGTTGATGATAT	0.542		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	4	Substitution - Missense(4)	p.N546K(4)	central_nervous_system(4)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(1636-1638)aaC>aaA		fibroblast growth factor receptor 1	Palifermin(DB00039)						87.0	95.0	92.0					8																	38274849		2154	4289	6443	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38274849G>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1638C>A	8.37:g.38274849G>T	ENSP00000400162:p.Asn546Lys					FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K	p.N546K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		12	2579	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	546			Protein kinase.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.1638C>A	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406498	0.83230	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.57	3.76	0.43208	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	N	0.04387	-0.21	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88572	0.3130	10	0.87932	D	0	.	9.3132	0.37919	0.2169:0.0:0.7831:0.0	.	455;455;546;536;544	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	K	544;577;546;546;546;544;544;457;536;455;457;544	ENSP00000380280:N544K;ENSP00000393312:N577K;ENSP00000400162:N546K;ENSP00000340636:N546K;ENSP00000432972:N544K;ENSP00000380302:N544K;ENSP00000348537:N457K;ENSP00000337247:N536K;ENSP00000327229:N455K;ENSP00000380292:N457K;ENSP00000380297:N544K	ENSP00000311337:N546K	N	-	3	2	FGFR1	38394006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.001000	0.40825	1.491000	0.48482	0.655000	0.94253	AAC		0.542	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				28	37	1	0	8.4185e-14	1	9.62115e-14	28	37				
MAML1	9794	broad.mit.edu	37	5	179193112	179193112	+	Silent	SNP	A	A	C			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr5:179193112A>C	ENST00000292599.3	+	2	1364	c.1101A>C	c.(1099-1101)tcA>tcC	p.S367S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCGGCATCAGCCCAGGCCC	0.627																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1099-1101)tcA>tcC		mastermind-like 1 (Drosophila)							43.0	44.0	44.0					5																	179193112		2203	4300	6503	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193112A>C	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1101A>C	5.37:g.179193112A>C						MAML1_ENST00000503050.1_3'UTR	p.S367S	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1364	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	367						Silent	SNP	ENST00000292599.3	37	c.1101A>C	CCDS34315.1																																																																																				0.627	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		5	44	0	0	0	1	0	5	44				
TNFAIP3	7128	broad.mit.edu	37	6	138201287	138201287	+	Silent	SNP	C	C	T			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr6:138201287C>T	ENST00000237289.4	+	8	2052	c.1986C>T	c.(1984-1986)tgC>tgT	p.C662C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	662	Interaction with TNIP1. {ECO:0000250}.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.C662fs*36(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGAGGGAATGCGGCACCCTTG	0.502			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"""D, N, F"""	"""tumor necrosis factor, alpha-induced protein 3"""			L			"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""		26	Whole gene deletion(25)|Complex - frameshift(1)	p.0?(25)|p.C662fs*36(1)	haematopoietic_and_lymphoid_tissue(26)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(1984-1986)tgC>tgT		tumor necrosis factor, alpha-induced protein 3							98.0	89.0	92.0					6																	138201287		2203	4300	6503	SO:0001819	synonymous_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138201287C>T	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1986C>T	6.37:g.138201287C>T							p.C662C	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	8	2052	+	Breast(32;0.135)|Colorectal(23;0.24)		662			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	c.1986C>T	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	9.607	1.130355	0.21041	.	.	ENSG00000118503	ENST00000544646	.	.	.	6.08	-6.69	0.01772	.	.	.	.	.	T	0.62344	0.2420	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75895	-0.3156	5	0.87932	D	0	-17.8663	16.8377	0.85961	0.0:0.595:0.0:0.405	.	.	.	.	W	662	.	ENSP00000442207:R662W	R	+	1	2	TNFAIP3	138242980	0.008000	0.16893	0.185000	0.23176	0.928000	0.56348	-1.071000	0.03437	-1.541000	0.01727	-0.302000	0.09304	CGG		0.502	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			3	36	0	0	0	1	0	3	36				
KIAA1217	56243	broad.mit.edu	37	10	24669920	24669920	+	Silent	SNP	T	T	C			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr10:24669920T>C	ENST00000376454.3	+	3	507	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000376452.3_Silent_p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(475-477)ccT>ccC		KIAA1217							62.0	63.0	63.0					10																	24669920		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669920T>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.477T>C	10.37:g.24669920T>C						KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000376452.3_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P	p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			3	507	+			159					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.477T>C	CCDS31165.1																																																																																				0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		3	54	0	0	0	1	0	3	54				
EMILIN3	90187	broad.mit.edu	37	20	39990877	39990877	+	Silent	SNP	C	C	T			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr20:39990877C>T	ENST00000332312.3	-	4	1524	c.1332G>A	c.(1330-1332)ggG>ggA	p.G444G		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	444						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CACCCTCTGTCCCATTGAGCG	0.667																																						ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(1330-1332)ggG>ggA		elastin microfibril interfacer 3							93.0	93.0	93.0					20																	39990877		2203	4300	6503	SO:0001819	synonymous_variant	90187					proteinaceous extracellular matrix		g.chr20:39990877C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1332G>A	20.37:g.39990877C>T							p.G444G	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1524	-		Myeloproliferative disorder(115;0.00425)	444					Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	c.1332G>A	CCDS13316.1																																																																																				0.667	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		32	56	0	0	0	1	0	32	56				
STOX1	219736	broad.mit.edu	37	10	70645882	70645882	+	Missense_Mutation	SNP	G	G	A	rs527340506		TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr10:70645882G>A	ENST00000298596.6	+	3	2413	c.2330G>A	c.(2329-2331)aGa>aAa	p.R777K	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R667K|STOX1_ENST00000399169.4_Missense_Mutation_p.R777K	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	777						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTGATTGAGAGATCTCTGACC	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21695	0.0		0.0	False		,,,				2504	0.0					ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(2329-2331)aGa>aAa		storkhead box 1							82.0	80.0	81.0					10																	70645882		1907	4127	6034	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645882G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2330G>A	10.37:g.70645882G>A	ENSP00000298596:p.Arg777Lys					STOX1_ENST00000399169.4_Missense_Mutation_p.R777K|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R667K|STOX1_ENST00000399162.2_Intron	p.R777K	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	2413	+			777					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.2330G>A	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	6.698	0.497460	0.12762	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.64618	-0.11;-0.11;-0.11	5.87	2.82	0.32997	.	0.698597	0.15066	N	0.282510	T	0.43500	0.1250	L	0.50333	1.59	0.09310	N	1	B	0.18013	0.025	B	0.12837	0.008	T	0.36065	-0.9763	10	0.02654	T	1	.	1.4799	0.02434	0.274:0.2182:0.3857:0.1221	.	777	Q6ZVD7	STOX1_HUMAN	K	777;777;667	ENSP00000382121:R777K;ENSP00000298596:R777K;ENSP00000394509:R667K	ENSP00000298596:R777K	R	+	2	0	STOX1	70315888	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-0.204000	0.09425	0.921000	0.36994	-0.140000	0.14226	AGA		0.468	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		4	47	0	0	0	1	0	4	47				
TEK	7010	broad.mit.edu	37	9	27180335	27180335	+	Silent	SNP	A	A	G	rs111637971		TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr9:27180335A>G	ENST00000380036.4	+	7	1441	c.999A>G	c.(997-999)ccA>ccG	p.P333P	TEK_ENST00000406359.4_Intron|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	333	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCTGCTCTCCAGGATGGCAGG	0.507																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(997-999)ccA>ccG		TEK tyrosine kinase, endothelial							101.0	80.0	87.0					9																	27180335		2203	4300	6503	SO:0001819	synonymous_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27180335A>G	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.999A>G	9.37:g.27180335A>G						TEK_ENST00000406359.4_Intron|TEK_ENST00000519097.1_Intron	p.P333P	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	7	1441	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	333			EGF-like 3.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	c.999A>G	CCDS6519.1																																																																																				0.507	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			9	17	0	0	0	1	0	9	17				
IGKV1D-16	28901	broad.mit.edu	37	2	90139477	90139477	+	RNA	SNP	G	G	A	rs2848291		TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr2:90139477G>A	ENST00000492446.1	+	0	275									immunoglobulin kappa variable 1D-16																		GTCCCATCAAGGTTCAGCGGC	0.483																																						ENST00000492446.1																			0																				95.0	98.0	97.0					2																	90139477		1847	4084	5931			28901							g.chr2:90139477G>A	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139477G>A														0	275	+									RNA	SNP	ENST00000492446.1	37																																																																																						0.483	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		4	157	0	0	0	1	0	4	157				
REV1	51455	broad.mit.edu	37	2	100065882	100065882	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr2:100065882T>C	ENST00000258428.3	-	4	494	c.266A>G	c.(265-267)cAt>cGt	p.H89R	REV1_ENST00000393445.3_Missense_Mutation_p.H89R|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	89	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCAATAATATGTGTTGTTTT	0.323								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(265-267)cAt>cGt	Direct reversal of damage	REV1, polymerase (DNA directed)							110.0	115.0	113.0					2																	100065882		2202	4298	6500	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100065882T>C	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.266A>G	2.37:g.100065882T>C	ENSP00000258428:p.His89Arg					REV1_ENST00000393445.3_Missense_Mutation_p.H89R|REV1_ENST00000465835.1_5'UTR	p.H89R	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			4	494	-			89			BRCT.		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.266A>G	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677799	0.88445	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.23950	1.88;1.88	6.06	6.06	0.98353	BRCT (4);	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.999	T	0.75116	-0.3431	10	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	68;89;89	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	R	89	ENSP00000377091:H89R;ENSP00000258428:H89R	ENSP00000258428:H89R	H	-	2	0	REV1	99432314	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.665000	0.83852	2.323000	0.78572	0.528000	0.53228	CAT		0.323	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		4	78	0	0	0	1	0	4	78				
DOCK2	1794	broad.mit.edu	37	5	169454924	169454924	+	Nonsense_Mutation	SNP	G	G	T	rs577269066		TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr5:169454924G>T	ENST00000256935.8	+	34	3519	c.3439G>T	c.(3439-3441)Gag>Tag	p.E1147*	DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E639*|MIR378E_ENST00000581976.1_RNA|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E208*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1147	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGAGGCGACGAGCAGTACAT	0.517																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(3439-3441)Gag>Tag		dedicator of cytokinesis 2							114.0	104.0	108.0					5																	169454924		2203	4300	6503	SO:0001587	stop_gained	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169454924G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3439G>T	5.37:g.169454924G>T	ENSP00000256935:p.Glu1147*					DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E639*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E208*	p.E1147*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		34	3519	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1147			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Nonsense_Mutation	SNP	ENST00000256935.8	37	c.3439G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	50	16.276412	0.99859	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	.	.	.	5.24	5.24	0.73138	.	0.119767	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	13.7634	0.62979	0.0:0.0:0.8465:0.1535	.	.	.	.	X	1147;639;208	.	ENSP00000256935:E1147X	E	+	1	0	DOCK2	169387502	1.000000	0.71417	0.950000	0.38849	0.768000	0.43524	5.159000	0.64923	2.455000	0.83008	0.555000	0.69702	GAG		0.517	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		5	94	1	0	0.217242	1	0.217242	5	94				
ZMYM1	79830	broad.mit.edu	37	1	35579445	35579445	+	Missense_Mutation	SNP	G	G	C	rs371499968		TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr1:35579445G>C	ENST00000373330.1	+	11	2188	c.2014G>C	c.(2014-2016)Gct>Cct	p.A672P	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.A672P			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	672						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATCATCAAAGGCTATCTTAAT	0.368																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(2014-2016)Gct>Cct		zinc finger, MYM-type 1							73.0	68.0	69.0					1																	35579445		1852	4085	5937	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579445G>C	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2014G>C	1.37:g.35579445G>C	ENSP00000362427:p.Ala672Pro					ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.A672P	p.A672P			Q5SVZ6	ZMYM1_HUMAN			11	2188	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	672					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.2014G>C	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	9.552	1.116180	0.20795	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.23348	1.91;1.91;1.91	4.64	1.65	0.23941	Ribonuclease H-like (1);	0.398666	0.21772	N	0.069345	T	0.30386	0.0763	L	0.33668	1.02	0.09310	N	1	D;D	0.58620	0.983;0.983	P;P	0.62298	0.9;0.9	T	0.06006	-1.0851	9	.	.	.	-4.6797	7.6192	0.28175	0.306:0.0:0.694:0.0	.	653;672	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	P	672;597;672	ENSP00000352920:A672P;ENSP00000362426:A597P;ENSP00000362427:A672P	.	A	+	1	0	ZMYM1	35352032	0.005000	0.15991	0.065000	0.19835	0.002000	0.02628	-0.033000	0.12246	0.389000	0.25086	0.655000	0.94253	GCT		0.368	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		6	25	0	0	0	1	0	6	25				
ADH4	127	broad.mit.edu	37	4	100047875	100047875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr4:100047875delT	ENST00000265512.7	-	8	1062	c.988delA	c.(988-990)agtfs	p.S330fs	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000508393.1_Frame_Shift_Del_p.S349fs|ADH4_ENST00000505590.1_Frame_Shift_Del_p.S349fs|ADH4_ENST00000423445.1_Frame_Shift_Del_p.S349fs	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	330					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		GAATCTACACTTTTCCAACCT	0.373																																						ENST00000508393.1																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(1045-1047)gtfs		alcohol dehydrogenase 4 (class II), pi polypeptide	NADH(DB00157)						89.0	88.0	88.0					4																	100047875		2203	4300	6503	SO:0001589	frameshift_variant	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100047875delT	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.988delA	4.37:g.100047875delT	ENSP00000265512:p.Ser330fs					ADH4_ENST00000505590.1_Frame_Shift_Del_p.S349fs|ADH4_ENST00000423445.1_Frame_Shift_Del_p.S349fs|ADH4_ENST00000265512.7_Frame_Shift_Del_p.S330fs|RP11-696N14.1_ENST00000500358.2_RNA	p.S349fs			P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	9	1210	-			330					A8K470|B4DIE7|C9J4A9|Q8TCD7	Frame_Shift_Del	DEL	ENST00000265512.7	37	c.1045delA	CCDS34032.1																																																																																				0.373	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		22	52						22	52	---	---	---	---
ARHGEF17	9828	broad.mit.edu	37	11	73074835	73074835	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr11:73074835delA	ENST00000263674.3	+	16	5640	c.5290delA	c.(5290-5292)aacfs	p.N1764fs		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1764					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGACCGCAGGAACAGCATGAA	0.602																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(5290-5292)acfs		Rho guanine nucleotide exchange factor (GEF) 17							144.0	120.0	128.0					11																	73074835		2200	4293	6493	SO:0001589	frameshift_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73074835delA	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5290delA	11.37:g.73074835delA	ENSP00000263674:p.Asn1764fs						p.N1764fs	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			16	5640	+			1764					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Frame_Shift_Del	DEL	ENST00000263674.3	37	c.5290delA	CCDS8221.1																																																																																				0.602	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		17	30						17	30	---	---	---	---
CCDC144B	284047	broad.mit.edu	37	17	18498498	18498498	+	RNA	DEL	A	A	-	rs80104188		TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr17:18498498delA	ENST00000442583.1	-	0	749							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						TGCAGGCCTGAAAAAAAAAAA	0.244																																						ENST00000442583.1																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36												1871,63,1246		494,30,853,5,23,185	26.0	22.0	23.0			-0.8	0.0	17	dbSNP_130	25	3204,292,3800		616,57,1915,21,193,846	no	intergenic				1110,87,2768,26,216,1031	A1A1,A1A2,A1R,A2A2,A2R,RR		47.9167,41.1635,51.5559			18498498	5075,355,5046	1682	3869	5551			284047							g.chr17:18498498delA	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498498delA														0	749	-								Q6P5Q3|Q8N200	RNA	DEL	ENST00000442583.1	37																																																																																						0.244	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		3	3						3	3	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44732958	44732958	+	Splice_Site	DEL	G	G	-			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chrX:44732958delG	ENST00000377967.4	+	1	202	c.161delG	c.(160-162)agc>ac	p.S54fs	KDM6A_ENST00000382899.4_Splice_Site_p.S54fs|KDM6A_ENST00000543216.1_Splice_Site_p.S54fs|KDM6A_ENST00000536777.1_Splice_Site_p.S54fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	54	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(8)|p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GGACTGGACAGGTACGGGCCG	0.731			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		14	No detectable mRNA/protein(8)|Whole gene deletion(6)	p.0(8)|p.0?(6)	haematopoietic_and_lymphoid_tissue(6)|oesophagus(4)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e1+1		lysine (K)-specific demethylase 6A							3.0	5.0	4.0					X																	44732958		1871	3696	5567	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44732958delG	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.161+1G>-	X.37:g.44732958delG						KDM6A_ENST00000536777.1_Splice_Site_p.S54_splice|KDM6A_ENST00000543216.1_Splice_Site_p.S54_splice|KDM6A_ENST00000382899.4_Splice_Site_p.S54_splice	p.S54_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			1	202	+			54					Q52LL9|Q5JVQ7	Splice_Site	DEL	ENST00000377967.4	37	c.161_splice	CCDS14265.1																																																																																				0.731	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Frame_Shift_Del	2	4						2	4	---	---	---	---
