#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
AGPS	8540	broad.mit.edu	37	2	178402827	178402827	+	Silent	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr2:178402827A>G	ENST00000264167.4	+	20	2027	c.1881A>G	c.(1879-1881)ctA>ctG	p.L627L	AGPS_ENST00000409888.1_Silent_p.L158L	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	627					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AGCAATGGCTAAAGGAAAGTA	0.393																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(1879-1881)ctA>ctG		alkylglycerone phosphate synthase							130.0	127.0	128.0					2																	178402827		2203	4300	6503	SO:0001819	synonymous_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178402827A>G	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1881A>G	2.37:g.178402827A>G						AGPS_ENST00000409888.1_Silent_p.L158L	p.L627L	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		20	2027	+			627					A5D8U9|Q2TU35	Silent	SNP	ENST00000264167.4	37	c.1881A>G	CCDS2275.1																																																																																				0.393	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			20	79	0	0	0	1	0	20	79				
SPTA1	6708	broad.mit.edu	37	1	158606472	158606472	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:158606472G>A	ENST00000368147.4	-	37	5449	c.5269C>T	c.(5269-5271)Cgc>Tgc	p.R1757C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1757					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)	p.R1757C(2)		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)					CCCTCTAGGCGTTTGTGCTTC	0.473																																						ENST00000368148.3																			2	Substitution - Missense(2)	p.R1757C(2)	large_intestine(1)|breast(1)	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.(5269-5271)Cgc>Tgc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							119.0	116.0	117.0					1																	158606472		1866	4097	5963	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.chr1:158606472G>A	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.5269C>T	1.37:g.158606472G>A	ENSP00000357129:p.Arg1757Cys					SPTA1_ENST00000368147.3_Missense_Mutation_p.R1757C	p.R1757C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			37	5449	-	all_hematologic(112;0.0378)		1757					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5269C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146494	0.77888	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53423	0.62;0.62	5.26	5.26	0.73747	.	.	.	.	.	T	0.66954	0.2842	M	0.84433	2.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.71163	-0.4673	9	0.66056	D	0.02	.	15.7406	0.77891	0.0:0.0:1.0:0.0	.	1757	P02549	SPTA1_HUMAN	C	1757	ENSP00000357130:R1757C;ENSP00000357129:R1757C	ENSP00000357129:R1757C	R	-	1	0	SPTA1	156873096	1.000000	0.71417	0.531000	0.27976	0.951000	0.60555	6.107000	0.71517	2.744000	0.94065	0.650000	0.86243	CGC		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		21	83	0	0	0	1	0	21	83				
PKD1	5310	broad.mit.edu	37	16	2161025	2161025	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr16:2161025G>A	ENST00000262304.4	-	15	4351	c.4143C>T	c.(4141-4143)ggC>ggT	p.G1381G	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.G1381G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1381	PKD 8. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGTGACGTTGCCCACCTCTG	0.667																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4141-4143)ggC>ggT		polycystic kidney disease 1 (autosomal dominant)							33.0	35.0	34.0					16																	2161025		2190	4290	6480	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2161025G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4143C>T	16.37:g.2161025G>A						PKD1_ENST00000423118.1_Silent_p.G1381G	p.G1381G	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	4351	-			1381			PKD 8.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.4143C>T	CCDS32369.1																																																																																				0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			9	49	0	0	0	1	0	9	49				
DPYD	1806	broad.mit.edu	37	1	97700433	97700433	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:97700433A>G	ENST00000370192.3	-	19	2517	c.2417T>C	c.(2416-2418)cTc>cCc	p.L806P	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	806					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ACCACTATGGAGAAACTGAAG	0.433																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2416-2418)cTc>cCc		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						113.0	90.0	98.0					1																	97700433		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97700433A>G	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2417T>C	1.37:g.97700433A>G	ENSP00000359211:p.Leu806Pro					DPYD-AS1_ENST00000422980.1_RNA	p.L806P	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	19	2517	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	806					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2417T>C	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919364	0.73098	.	.	ENSG00000188641	ENST00000370192	T	0.80123	-1.34	5.75	5.75	0.90469	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.92221	0.7533	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94593	0.7789	10	0.87932	D	0	-13.4877	16.0487	0.80740	1.0:0.0:0.0:0.0	.	806	Q12882	DPYD_HUMAN	P	806	ENSP00000359211:L806P	ENSP00000359211:L806P	L	-	2	0	DPYD	97473021	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	8.962000	0.93254	2.196000	0.70406	0.460000	0.39030	CTC		0.433	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		6	15	0	0	0	1	0	6	15				
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs34988824	byFrequency	TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr6:32725596C>G	ENST00000437316.2	-	4	774	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Silent_p.L237L			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(709-711)ctG>ctC		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725596C>G	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.711G>C	6.37:g.32725596C>G						HLA-DQB2_ENST00000437316.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron	p.L237L			Q5SR06	Q5SR06_HUMAN			4	772	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.711G>C																																																																																					0.562	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			5	26	0	0	0	1	0	5	26				
CHID1	66005	broad.mit.edu	37	11	884111	884111	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr11:884111C>A	ENST00000449825.1	-	9	1116	c.760G>T	c.(760-762)Gat>Tat	p.D254Y	CHID1_ENST00000323578.8_Missense_Mutation_p.D254Y|CHID1_ENST00000323541.7_Missense_Mutation_p.D284Y|CHID1_ENST00000526714.1_Intron|CHID1_ENST00000429789.2_Missense_Mutation_p.D223Y|CHID1_ENST00000336845.5_Missense_Mutation_p.D279Y|CHID1_ENST00000436108.2_Missense_Mutation_p.D254Y|CHID1_ENST00000454838.2_Missense_Mutation_p.D279Y|CHID1_ENST00000528581.1_Missense_Mutation_p.D279Y	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	254					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CTGAAACCATCCAGCACGGGG	0.597																																					Pancreas(117;992 2327 5172 41921)	ENST00000449825.1																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(760-762)Gat>Tat		chitinase domain containing 1							175.0	125.0	142.0					11																	884111		2203	4299	6502	SO:0001583	missense	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:884111C>A	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.760G>T	11.37:g.884111C>A	ENSP00000391255:p.Asp254Tyr					CHID1_ENST00000323578.8_Missense_Mutation_p.D254Y|CHID1_ENST00000526714.1_Intron|CHID1_ENST00000336845.5_Missense_Mutation_p.D279Y|CHID1_ENST00000436108.2_Missense_Mutation_p.D254Y|CHID1_ENST00000454838.2_Missense_Mutation_p.D279Y|CHID1_ENST00000323541.7_Missense_Mutation_p.D284Y|CHID1_ENST00000528581.1_Missense_Mutation_p.D279Y|CHID1_ENST00000429789.2_Missense_Mutation_p.D223Y	p.D254Y	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	9	1116	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	254					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	c.760G>T	CCDS7722.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985902	0.74589	.	.	ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108;ENST00000531859	T;T;T;T;T;T;T;T;T	0.60299	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;0.2	5.32	5.32	0.75619	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.045828	0.85682	D	0.000000	T	0.76111	0.3942	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.997;1.0;0.987;0.997	D;P;D;P;P	0.79108	0.916;0.9;0.992;0.679;0.9	T	0.76812	-0.2821	10	0.48119	T	0.1	-20.4115	17.7598	0.88461	0.0:1.0:0.0:0.0	.	315;284;223;279;254	B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.;.;.;.;CHID1_HUMAN	Y	284;254;279;254;223;279;279;254;158	ENSP00000324821:D284Y;ENSP00000391255:D254Y;ENSP00000398722:D279Y;ENSP00000325055:D254Y;ENSP00000416034:D223Y;ENSP00000435503:D279Y;ENSP00000338838:D279Y;ENSP00000388156:D254Y;ENSP00000434651:D158Y	ENSP00000324821:D284Y	D	-	1	0	CHID1	874111	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	6.114000	0.71560	2.493000	0.84123	0.655000	0.94253	GAT		0.597	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		12	50	1	0	0.00136819	1	0.00143494	12	50				
IL6ST	3572	broad.mit.edu	37	5	55248076	55248076	+	Splice_Site	SNP	A	A	C			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr5:55248076A>C	ENST00000381298.2	-	12	1865		c.e12+1		IL6ST_ENST00000336909.5_Splice_Site|IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000381287.4_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381294.3_Splice_Site|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer						ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GTTTGGACTTACGAGCTTGTT	0.338			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.e12+1		interleukin 6 signal transducer (gp130, oncostatin M receptor)							106.0	103.0	104.0					5																	55248076		2203	4300	6503	SO:0001630	splice_region_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55248076A>C	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1552+1T>G	5.37:g.55248076A>C						IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Splice_Site|IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000336909.5_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_Splice_Site		NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			12	1865	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)						A0N0L4|Q5FC04|Q9UQ41	Splice_Site	SNP	ENST00000381298.2	37		CCDS3971.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142240	0.77775	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IL6ST	55283833	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.063000	0.64332	2.281000	0.76405	0.533000	0.62120	.		0.338	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184	Intron	14	43	0	0	0	1	0	14	43				
BPHL	670	broad.mit.edu	37	6	3127486	3127486	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr6:3127486G>T	ENST00000380379.5	+	3	271	c.222G>T	c.(220-222)gaG>gaT	p.E74D	BPHL_ENST00000380368.2_Missense_Mutation_p.E57D|BPHL_ENST00000380375.3_Missense_Mutation_p.E57D|BPHL_ENST00000434640.1_Missense_Mutation_p.E57D	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	74					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GAAGTGGAGAGACTGATTTTG	0.473																																						ENST00000380368.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13						c.(169-171)gaG>gaT		biphenyl hydrolase-like (serine hydrolase)							115.0	111.0	113.0					6																	3127486		2203	4300	6503	SO:0001583	missense	670				cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	g.chr6:3127486G>T	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.222G>T	6.37:g.3127486G>T	ENSP00000369739:p.Glu74Asp					BPHL_ENST00000380379.5_Missense_Mutation_p.E74D|BPHL_ENST00000380375.3_Missense_Mutation_p.E57D|BPHL_ENST00000434640.1_Missense_Mutation_p.E57D	p.E57D			Q86WA6	BPHL_HUMAN			4	815	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	74					Q00306|Q13855|Q3KP51	Missense_Mutation	SNP	ENST00000380379.5	37	c.171G>T	CCDS4483.2	.	.	.	.	.	.	.	.	.	.	G	9.198	1.027689	0.19512	.	.	ENSG00000137274	ENST00000434640;ENST00000380375;ENST00000380368;ENST00000380379	.	.	.	5.43	2.56	0.30785	.	0.530364	0.22398	N	0.060585	T	0.19167	0.0460	L	0.34521	1.04	0.35418	D	0.792984	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.03673	-1.1014	9	0.29301	T	0.29	-6.0078	7.4639	0.27310	0.2024:0.0:0.6662:0.1314	.	74;57	Q86WA6;Q86WA6-2	BPHL_HUMAN;.	D	57;57;57;74	.	ENSP00000369726:E57D	E	+	3	2	BPHL	3072485	1.000000	0.71417	0.916000	0.36221	0.953000	0.61014	1.177000	0.31969	0.732000	0.32470	0.655000	0.94253	GAG		0.473	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			10	39	1	0	1.11149e-13	1	1.32761e-13	10	39				
PLCH2	9651	broad.mit.edu	37	1	2411397	2411397	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:2411397C>T	ENST00000419816.2	+	3	770	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	PLCH2_ENST00000378486.3_Missense_Mutation_p.R166C|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000449969.1_Missense_Mutation_p.R139C|PLCH2_ENST00000378488.3_Missense_Mutation_p.R166C			O75038	PLCH2_HUMAN	phospholipase C, eta 2	166					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCTGGCTCGCCGCCAGCGCAC	0.687																																						ENST00000449969.1																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(415-417)Cgc>Tgc		phospholipase C, eta 2							24.0	28.0	27.0					1																	2411397		2100	4162	6262	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2411397C>T	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.496C>T	1.37:g.2411397C>T	ENSP00000389803:p.Arg166Cys					PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.R166C|PLCH2_ENST00000378488.3_Missense_Mutation_p.R166C|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.R166C	p.R139C			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	3	576	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	166			Necessary for plasma membrane localization (By similarity).|PH.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.415C>T		.	.	.	.	.	.	.	.	.	.	C	16.30	3.085341	0.55861	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889	T;T;T	0.25912	1.85;1.83;1.77	4.92	4.92	0.64577	.	.	.	.	.	T	0.50326	0.1609	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.53556	-0.8422	9	0.87932	D	0	.	17.4485	0.87585	0.0:1.0:0.0:0.0	.	166	O75038	PLCH2_HUMAN	C	139;166;166;13	ENSP00000397289:R139C;ENSP00000367747:R166C;ENSP00000367749:R166C	ENSP00000341313:R13C	R	+	1	0	PLCH2	2401257	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.601000	0.61090	2.459000	0.83118	0.491000	0.48974	CGC		0.687	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		9	48	0	0	0	1	0	9	48				
MUC17	140453	broad.mit.edu	37	7	100677794	100677794	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:100677794C>T	ENST00000306151.4	+	3	3161	c.3097C>T	c.(3097-3099)Cca>Tca	p.P1033S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1033	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3097-3099)Cca>Tca		mucin 17, cell surface associated							502.0	397.0	433.0					7																	100677794		2203	4298	6501	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677794C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3097C>T	7.37:g.100677794C>T	ENSP00000302716:p.Pro1033Ser						p.P1033S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3161	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1033			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3097C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.975	-0.698989	0.03279	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.74	-1.48	0.08745	.	.	.	.	.	T	0.01320	0.0043	N	0.03608	-0.345	0.09310	N	1	B	0.21225	0.053	B	0.13407	0.009	T	0.46331	-0.9199	9	0.06891	T	0.86	.	4.0354	0.09727	0.0:0.4732:0.0:0.5268	.	1033	Q685J3	MUC17_HUMAN	S	1033	ENSP00000302716:P1033S	ENSP00000302716:P1033S	P	+	1	0	MUC17	100464514	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.288000	0.02783	-0.717000	0.04955	0.134000	0.15878	CCA		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	508	0	0	0	1	0	5	508				
CDC20	991	broad.mit.edu	37	1	43828701	43828701	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:43828701G>A	ENST00000372462.1	+	10	1604	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	CDC20_ENST00000310955.6_Silent_p.L467L|ELOVL1_ENST00000470769.1_5'Flank			Q12834	CDC20_HUMAN	cell division cycle 20	467					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGAGACCCTGAGGCTATGGC	0.607																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	ENST00000372462.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(1399-1401)ctG>ctA		cell division cycle 20							87.0	89.0	88.0					1																	43828701		2203	4300	6503	SO:0001819	synonymous_variant	991				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	g.chr1:43828701G>A	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.1401G>A	1.37:g.43828701G>A						CDC20_ENST00000310955.6_Silent_p.L467L	p.L467L			Q12834	CDC20_HUMAN			10	1604	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	467					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Silent	SNP	ENST00000372462.1	37	c.1401G>A	CCDS484.1																																																																																				0.607	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		22	58	0	0	0	1	0	22	58				
HMCN1	83872	broad.mit.edu	37	1	186097410	186097410	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:186097410C>A	ENST00000271588.4	+	83	13120	c.12891C>A	c.(12889-12891)aaC>aaA	p.N4297K	HMCN1_ENST00000367492.2_Missense_Mutation_p.N4297K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4297	Ig-like C2-type 42.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTTCAATAACAATATTATTC	0.368																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(12889-12891)aaC>aaA		hemicentin 1							63.0	62.0	63.0					1																	186097410		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186097410C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12891C>A	1.37:g.186097410C>A	ENSP00000271588:p.Asn4297Lys					HMCN1_ENST00000367492.2_Missense_Mutation_p.N4297K	p.N4297K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			83	13120	+			4297			Ig-like C2-type 42.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12891C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550176	0.65311	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.36520	1.25;1.25	5.36	2.44	0.29823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.081906	0.85682	D	0.000000	T	0.40094	0.1103	N	0.24115	0.695	0.48087	D	0.999583	D	0.76494	0.999	D	0.83275	0.996	T	0.08066	-1.0740	10	0.30078	T	0.28	.	9.4465	0.38701	0.0:0.6572:0.0:0.3428	.	4297	Q96RW7	HMCN1_HUMAN	K	4297	ENSP00000271588:N4297K;ENSP00000356462:N4297K	ENSP00000271588:N4297K	N	+	3	2	HMCN1	184364033	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	1.561000	0.36342	0.644000	0.30656	0.585000	0.79938	AAC		0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	37	1	0	7.48243e-07	1	8.6958e-07	9	37				
CDH6	1004	broad.mit.edu	37	5	31317987	31317987	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr5:31317987C>T	ENST00000265071.2	+	11	2103	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	CDH6_ENST00000514738.1_Missense_Mutation_p.T558M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	613					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGACTGAGCACGGGGGCTCTG	0.592																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1837-1839)aCg>aTg		cadherin 6, type 2, K-cadherin (fetal kidney)							69.0	68.0	68.0					5																	31317987		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317987C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1838C>T	5.37:g.31317987C>T	ENSP00000265071:p.Thr613Met					CDH6_ENST00000514738.1_Missense_Mutation_p.T558M	p.T613M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			11	2103	+			613					A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1838C>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430954	0.83776	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.59083	0.37;0.29	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.79028	0.4377	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.97;0.997	T	0.80054	-0.1543	10	0.49607	T	0.09	.	19.309	0.94177	0.0:1.0:0.0:0.0	.	613;613	P55285;P55285-2	CADH6_HUMAN;.	M	558;613	ENSP00000424843:T558M;ENSP00000265071:T613M	ENSP00000265071:T613M	T	+	2	0	CDH6	31353744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.625000	0.88918	0.655000	0.94253	ACG		0.592	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		12	39	0	0	0	1	0	12	39				
NPHP4	261734	broad.mit.edu	37	1	5940290	5940290	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:5940290C>T	ENST00000378156.4	-	19	2760	c.2495G>A	c.(2494-2496)tGt>tAt	p.C832Y	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	832					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTGTTCACACGGGTGACC	0.507																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(2494-2496)tGt>tAt		nephronophthisis 4							88.0	91.0	90.0					1																	5940290		2028	4177	6205	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5940290C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2495G>A	1.37:g.5940290C>T	ENSP00000367398:p.Cys832Tyr					NPHP4_ENST00000478423.2_5'UTR	p.C832Y	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	19	2760	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	832					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.2495G>A	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742869	0.49151	.	.	ENSG00000131697	ENST00000378156	D	0.86956	-2.19	5.21	2.05	0.26809	.	0.679013	0.14477	N	0.317182	T	0.81182	0.4769	L	0.51422	1.61	0.09310	N	1	P	0.51791	0.948	B	0.43990	0.438	T	0.68515	-0.5388	10	0.17832	T	0.49	.	6.3812	0.21536	0.0:0.6428:0.1664:0.1908	.	832	O75161	NPHP4_HUMAN	Y	832	ENSP00000367398:C832Y	ENSP00000367398:C832Y	C	-	2	0	NPHP4	5862877	1.000000	0.71417	0.008000	0.14137	0.084000	0.17831	2.523000	0.45580	0.578000	0.29487	0.561000	0.74099	TGT		0.507	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			5	23	0	0	0	1	0	5	23				
DNTT	1791	broad.mit.edu	37	10	98078274	98078274	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr10:98078274C>A	ENST00000371174.2	+	2	471	c.369C>A	c.(367-369)caC>caA	p.H123Q	DNTT_ENST00000419175.1_Missense_Mutation_p.H123Q			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	123	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CAGGAAAACACCAGCTTGTTG	0.458																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(367-369)caC>caA		DNA nucleotidylexotransferase							110.0	100.0	103.0					10																	98078274		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98078274C>A	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.369C>A	10.37:g.98078274C>A	ENSP00000360216:p.His123Gln					DNTT_ENST00000371174.2_Missense_Mutation_p.H123Q	p.H123Q	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	2	539	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	123			BRCT.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.369C>A	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178176	0.38511	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.44482	0.92;0.92	5.62	3.51	0.40186	BRCT (2);	0.214890	0.48767	D	0.000179	T	0.61009	0.2313	M	0.80616	2.505	0.42496	D	0.992915	D;D	0.61697	0.99;0.983	D;D	0.80764	0.994;0.987	T	0.63532	-0.6616	10	0.62326	D	0.03	-7.1656	7.3473	0.26670	0.0:0.7398:0.0:0.2602	.	123;123	P04053-2;P04053	.;TDT_HUMAN	Q	123	ENSP00000401169:H123Q;ENSP00000360216:H123Q	ENSP00000360216:H123Q	H	+	3	2	DNTT	98068264	1.000000	0.71417	0.998000	0.56505	0.109000	0.19521	0.930000	0.28858	1.355000	0.45865	0.563000	0.77884	CAC		0.458	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		10	55	1	0	0.00829132	1	0.00848873	10	55				
PDE6D	5147	broad.mit.edu	37	2	232601992	232601992	+	Silent	SNP	G	G	A	rs571686278		TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr2:232601992G>A	ENST00000287600.4	-	4	470	c.276C>T	c.(274-276)ttC>ttT	p.F92F	PDE6D_ENST00000409772.1_Intron	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN	phosphodiesterase 6D, cGMP-specific, rod, delta	92					regulation of GTP catabolic process (GO:0033124)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|GTPase inhibitor activity (GO:0005095)|Rab GTPase binding (GO:0017137)			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		AGCCAAACTCGAAGAACCATT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		17804	0.0		0.0	False		,,,				2504	0.001					ENST00000287600.4																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(274-276)ttC>ttT		phosphodiesterase 6D, cGMP-specific, rod, delta							83.0	75.0	78.0					2																	232601992		2203	4300	6503	SO:0001819	synonymous_variant	5147				regulation of GTP catabolic process|response to stimulus|visual perception		3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding	g.chr2:232601992G>A	AF045999	CCDS33398.1	2q35-q36	2014-04-28			ENSG00000156973	ENSG00000156973	3.1.4.17	"""Phosphodiesterases"""	8788	protein-coding gene	gene with protein product		602676				9533031, 9570951	Standard	NM_002601		Approved	JBTS22	uc002vse.1	O43924	OTTHUMG00000153785	ENST00000287600.4:c.276C>T	2.37:g.232601992G>A						PDE6D_ENST00000409772.1_Intron	p.F92F	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)	4	470	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)	92					O43250	Silent	SNP	ENST00000287600.4	37	c.276C>T	CCDS33398.1																																																																																				0.512	PDE6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332407.1			12	33	0	0	0	1	0	12	33				
HIVEP1	3096	broad.mit.edu	37	6	12120756	12120756	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr6:12120756C>T	ENST00000379388.2	+	4	1060	c.728C>T	c.(727-729)gCc>gTc	p.A243V		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	243					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCAATGGATGCCCCAAATCAG	0.433																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(727-729)gCc>gTc		human immunodeficiency virus type I enhancer binding protein 1							152.0	135.0	140.0					6																	12120756		1886	4122	6008	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12120756C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.728C>T	6.37:g.12120756C>T	ENSP00000368698:p.Ala243Val						p.A243V	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	1060	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	243					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.728C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	6.739	0.505164	0.12822	.	.	ENSG00000095951	ENST00000379388	T	0.09350	2.99	5.69	1.87	0.25490	.	0.458519	0.16266	N	0.222023	T	0.02610	0.0079	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44267	-0.9339	9	.	.	.	-8.7838	5.1818	0.15163	0.0:0.4423:0.2605:0.2972	.	243	P15822	ZEP1_HUMAN	V	243	ENSP00000368698:A243V	.	A	+	2	0	HIVEP1	12228742	0.000000	0.05858	0.001000	0.08648	0.274000	0.26718	0.226000	0.17776	0.331000	0.23511	0.655000	0.94253	GCC		0.433	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		5	167	0	0	0	1	0	5	167				
TRRAP	8295	broad.mit.edu	37	7	98515241	98515241	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:98515241A>G	ENST00000359863.4	+	20	2770	c.2561A>G	c.(2560-2562)gAc>gGc	p.D854G	TRRAP_ENST00000446306.3_Missense_Mutation_p.D853G|TRRAP_ENST00000355540.3_Missense_Mutation_p.D854G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	854					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGTGTGTGGACAACCTGCAG	0.572																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2560-2562)gAc>gGc		transformation/transcription domain-associated protein							104.0	83.0	90.0					7																	98515241		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98515241A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2561A>G	7.37:g.98515241A>G	ENSP00000352925:p.Asp854Gly					TRRAP_ENST00000355540.3_Missense_Mutation_p.D854G|TRRAP_ENST00000446306.3_Missense_Mutation_p.D853G	p.D854G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		20	2770	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		854					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2561A>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.7|28.7	4.943255|4.943255	0.92593|0.92593	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.65364|.	-0.15;-0.15|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Armadillo-like helical (1);Armadillo-type fold (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85991|0.85991	0.5826|0.5826	M|M	0.94021|0.94021	3.485|3.485	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.997;0.997|.	D|D	0.89837|0.89837	0.4000|0.4000	10|5	0.87932|.	D|.	0|.	.|.	15.5258|15.5258	0.75905|0.75905	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	854;568;854|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	G|A	854;854;852|569	ENSP00000352925:D854G;ENSP00000347733:D854G|.	ENSP00000347733:D854G|.	D|T	+|+	2|1	0|0	TRRAP|TRRAP	98353177|98353177	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.339000|9.339000	0.96797|0.96797	2.075000|2.075000	0.62263|0.62263	0.379000|0.379000	0.24179|0.24179	GAC|ACA		0.572	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		10	40	0	0	0	1	0	10	40				
CSPP1	79848	broad.mit.edu	37	8	67986537	67986537	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr8:67986537C>A	ENST00000262210.5	+	2	189	c.158C>A	c.(157-159)gCc>gAc	p.A53D	CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000519963.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	53					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCCAGATTGGCCGAAGACAAA	0.313																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(157-159)gCc>gAc		centrosome and spindle pole associated protein 1							90.0	93.0	92.0					8																	67986537		1809	4070	5879	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:67986537C>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.158C>A	8.37:g.67986537C>A	ENSP00000262210:p.Ala53Asp					CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000519963.1_Intron	p.A53D	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		2	189	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	53					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.158C>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940221	0.73557	.	.	ENSG00000104218	ENST00000521919;ENST00000262210;ENST00000389042	T;T	0.65549	-0.16;0.49	5.4	4.51	0.55191	.	0.000000	0.31589	U	0.007386	T	0.72787	0.3504	L	0.59436	1.845	0.80722	D	1	D;D;D	0.61697	0.99;0.988;0.988	P;P;P	0.61201	0.815;0.885;0.885	T	0.75654	-0.3243	10	0.87932	D	0	-5.7435	14.7261	0.69346	0.0:0.9254:0.0:0.0746	.	53;53;53	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	D	17;53;53	ENSP00000429546:A17D;ENSP00000262210:A53D	ENSP00000262210:A53D	A	+	2	0	CSPP1	68149091	0.995000	0.38212	0.998000	0.56505	0.570000	0.35934	3.410000	0.52664	2.690000	0.91761	0.563000	0.77884	GCC		0.313	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		8	45	1	0	0.0581538	1	0.0581538	8	45				
OXA1L	5018	broad.mit.edu	37	14	23239012	23239012	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr14:23239012C>T	ENST00000604262.1	+	4	475	c.452C>T	c.(451-453)gCc>gTc	p.A151V	OXA1L_ENST00000285848.5_Missense_Mutation_p.A211V|OXA1L_ENST00000358043.5_Missense_Mutation_p.A135V|OXA1L_ENST00000412791.1_Missense_Mutation_p.A151V			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	151					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		ACAGTCTTTGCCCGCTGCCTG	0.478																																						ENST00000358043.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(403-405)gCc>gTc		oxidase (cytochrome c) assembly 1-like							579.0	563.0	568.0					14																	23239012		2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23239012C>T		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.452C>T	14.37:g.23239012C>T	ENSP00000474623:p.Ala151Val					OXA1L_ENST00000285848.5_Missense_Mutation_p.A211V|OXA1L_ENST00000604262.1_Missense_Mutation_p.A151V|OXA1L_ENST00000412791.1_Missense_Mutation_p.A151V	p.A135V			Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	4	722	+	all_cancers(95;8.44e-05)		151					B4DPA2	Missense_Mutation	SNP	ENST00000604262.1	37	c.404C>T		.	.	.	.	.	.	.	.	.	.	C	10.27	1.303862	0.23736	.	.	ENSG00000155463	ENST00000285848;ENST00000431881;ENST00000412791;ENST00000358043	T;T;T	0.26518	1.73;1.78;1.78	5.99	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	N	0.10629	0.01	0.80722	D	1	P;B;D	0.69078	0.926;0.246;0.997	P;B;D	0.69307	0.762;0.262;0.963	T	0.06058	-1.0848	10	0.02654	T	1	-8.7499	14.367	0.66812	0.0:0.9281:0.0:0.0719	.	151;151;211	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	V	211;20;151;135	ENSP00000285848:A211V;ENSP00000387601:A151V;ENSP00000350740:A135V	ENSP00000285848:A211V	A	+	2	0	OXA1L	22308852	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.694000	0.61760	1.540000	0.49301	0.655000	0.94253	GCC		0.478	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468876.1	NM_005015		5	338	0	0	0	1	0	5	338				
OR5D13	390142	broad.mit.edu	37	11	55541365	55541365	+	Missense_Mutation	SNP	A	A	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr11:55541365A>T	ENST00000361760.1	+	1	452	c.452A>T	c.(451-453)tAt>tTt	p.Y151F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCTGGGTCCTATACATGGGGG	0.423																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(451-453)tAt>tTt		olfactory receptor, family 5, subfamily D, member 13							192.0	191.0	191.0					11																	55541365		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541365A>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.452A>T	11.37:g.55541365A>T	ENSP00000354800:p.Tyr151Phe						p.Y151F	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	452	+		all_epithelial(135;0.196)	151					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.452A>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.876177	0.33162	.	.	ENSG00000198877	ENST00000361760	T	0.37411	1.2	3.3	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31233	U	0.008015	T	0.47154	0.1430	M	0.77820	2.39	0.09310	N	1	P	0.40681	0.727	P	0.50825	0.651	T	0.33599	-0.9862	10	0.45353	T	0.12	-1.1176	6.8313	0.23911	0.8819:0.0:0.1181:0.0	.	151	Q8NGL4	OR5DD_HUMAN	F	151	ENSP00000354800:Y151F	ENSP00000354800:Y151F	Y	+	2	0	OR5D13	55297941	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-0.347000	0.07750	1.535000	0.49220	0.398000	0.26397	TAT		0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		33	140	0	0	0	1	0	33	140				
ATRX	546	broad.mit.edu	37	X	76855227	76855227	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chrX:76855227C>A	ENST00000373344.5	-	24	5974	c.5760G>T	c.(5758-5760)atG>atT	p.M1920I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.M1882I	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1920					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGCTTAAACTCATGGAGGTTT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5758-5760)atG>atT		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						65.0	61.0	62.0					X																	76855227		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855227C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5760G>T	X.37:g.76855227C>A	ENSP00000362441:p.Met1920Ile					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.M1882I	p.M1920I	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			24	5974	-			1920					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5760G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616721	0.46736	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92048	-2.95;-2.96	5.34	5.34	0.76211	.	0.052089	0.64402	U	0.000001	D	0.88269	0.6391	L	0.38175	1.15	0.80722	D	1	B;B	0.31548	0.328;0.049	B;B	0.27170	0.077;0.026	D	0.86476	0.1788	10	0.40728	T	0.16	-2.632	18.3055	0.90179	0.0:1.0:0.0:0.0	.	1882;1920	P46100-4;P46100	.;ATRX_HUMAN	I	1920;1882	ENSP00000362441:M1920I;ENSP00000378967:M1882I	ENSP00000362441:M1920I	M	-	3	0	ATRX	76741883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.670000	0.68088	2.348000	0.79779	0.594000	0.82650	ATG		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		11	15	1	0	1.58986e-06	1	1.79906e-06	11	15				
DEF6	50619	broad.mit.edu	37	6	35277530	35277530	+	Silent	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr6:35277530C>T	ENST00000316637.5	+	2	185	c.180C>T	c.(178-180)gaC>gaT	p.D60D	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	60	Poly-Asp.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						ATGATGATGACGGCCCTGTGT	0.577																																						ENST00000316637.5																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(178-180)gaC>gaT		differentially expressed in FDCP 6 homolog (mouse)							170.0	125.0	141.0					6																	35277530		2203	4300	6503	SO:0001819	synonymous_variant	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35277530C>T	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.180C>T	6.37:g.35277530C>T						DEF6_ENST00000542066.1_5'UTR	p.D60D	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN			2	185	+			60			Poly-Asp.		Q86VF4	Silent	SNP	ENST00000316637.5	37	c.180C>T	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	C	5.498	0.276948	0.10403	.	.	ENSG00000023892	ENST00000444278	.	.	.	5.22	-5.26	0.02772	.	.	.	.	.	T	0.48960	0.1529	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61282	-0.7094	4	.	.	.	-23.35	14.2879	0.66258	0.0:0.4543:0.0:0.5457	.	.	.	.	W	6	.	.	R	+	1	2	DEF6	35385508	0.000000	0.05858	0.663000	0.29738	0.581000	0.36288	-2.560000	0.00921	-0.952000	0.03649	-2.100000	0.00362	CGG		0.577	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		11	32	0	0	0	1	0	11	32				
COL1A2	1278	broad.mit.edu	37	7	94052353	94052353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:94052353C>T	ENST00000297268.6	+	40	2959	c.2488C>T	c.(2488-2490)Cga>Tga	p.R830*		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	830			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCAGTTGGCCGAACTGGAGA	0.567										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2488-2490)Cga>Tga		collagen, type I, alpha 2	Collagenase(DB00048)						156.0	145.0	149.0					7																	94052353		2203	4300	6503	SO:0001587	stop_gained	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052353C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2488C>T	7.37:g.94052353C>T	ENSP00000297268:p.Arg830*	HNSCC(75;0.22)					p.R830*	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	2959	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		830		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Nonsense_Mutation	SNP	ENST00000297268.6	37	c.2488C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	44	11.258435	0.99538	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.23	4.34	0.51931	.	0.146062	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5039	0.75722	0.1397:0.8603:0.0:0.0	.	.	.	.	X	830;831	.	ENSP00000297268:R830X	R	+	1	2	COL1A2	93890289	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	1.529000	0.35996	1.335000	0.45486	0.563000	0.77884	CGA		0.567	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		14	65	0	0	0	1	0	14	65				
TTN	7273	broad.mit.edu	37	2	179629396	179629396	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr2:179629396G>A	ENST00000591111.1	-	42	10070	c.9846C>T	c.(9844-9846)ggC>ggT	p.G3282G	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Silent_p.G3236G|TTN_ENST00000359218.5_Silent_p.G3236G|TTN_ENST00000460472.2_Silent_p.G3236G|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Silent_p.G3282G|TTN_ENST00000360870.5_Silent_p.G3282G|TTN_ENST00000342992.6_Silent_p.G3282G|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13609	Ig-like 19.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCACTTGAAGCCAGTGGAAA	0.502																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(9844-9846)ggC>ggT		titin							119.0	118.0	118.0					2																	179629396		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179629396G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9846C>T	2.37:g.179629396G>A						TTN_ENST00000359218.5_Silent_p.G3236G|TTN_ENST00000342175.6_Silent_p.G3236G|TTN_ENST00000342992.6_Silent_p.G3282G|TTN_ENST00000591111.1_Silent_p.G3282G|TTN_ENST00000360870.5_Silent_p.G3282G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.G3236G	p.G3282G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		42	10070	-			3011			Ig-like 19.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.9846C>T																																																																																					0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	124	0	0	0	1	0	27	124				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		3	34	0	0	0	1	0	3	34				
TTC29	83894	broad.mit.edu	37	4	147628687	147628687	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr4:147628687G>A	ENST00000325106.4	-	12	1573	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S	TTC29_ENST00000513335.1_Silent_p.S475S|TTC29_ENST00000398886.4_Silent_p.S475S	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	449										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTTCCACTGTGGATCCTCTAA	0.328																																						ENST00000513335.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26						c.(1423-1425)tcC>tcT		tetratricopeptide repeat domain 29							90.0	86.0	87.0					4																	147628687		1803	4063	5866	SO:0001819	synonymous_variant	83894						binding	g.chr4:147628687G>A	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1347C>T	4.37:g.147628687G>A						TTC29_ENST00000398886.4_Silent_p.S475S|TTC29_ENST00000325106.4_Silent_p.S449S	p.S475S			Q8NA56	TTC29_HUMAN			13	1624	-	all_hematologic(180;0.151)		449					A4GU95|Q9BXB6	Silent	SNP	ENST00000325106.4	37	c.1425C>T	CCDS47141.1																																																																																				0.328	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		3	30	0	0	0	1	0	3	30				
ARSF	416	broad.mit.edu	37	X	3002434	3002434	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chrX:3002434A>G	ENST00000381127.1	+	6	778	c.557A>G	c.(556-558)gAg>gGg	p.E186G	ARSF_ENST00000359361.2_Missense_Mutation_p.E186G|ARSF_ENST00000537104.1_Missense_Mutation_p.E186G	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	186					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTAGCCTTTGAGAGTCAGCTC	0.532																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(556-558)gAg>gGg		arylsulfatase F							147.0	111.0	123.0					X																	3002434		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002434A>G	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.557A>G	X.37:g.3002434A>G	ENSP00000370519:p.Glu186Gly					ARSF_ENST00000537104.1_Missense_Mutation_p.E186G|ARSF_ENST00000359361.2_Missense_Mutation_p.E186G	p.E186G	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			6	778	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	186					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.557A>G	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	A	8.019	0.759188	0.15846	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.98493	-4.96;-4.96;-4.96	3.44	-6.89	0.01660	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.668100	0.03508	N	0.219088	D	0.94801	0.8321	L	0.49778	1.585	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	D	0.88046	0.2784	10	0.23302	T	0.38	.	1.9259	0.03317	0.5055:0.1973:0.1022:0.1951	.	186	P54793	ARSF_HUMAN	G	186	ENSP00000370519:E186G;ENSP00000445594:E186G;ENSP00000352319:E186G	ENSP00000352319:E186G	E	+	2	0	ARSF	3012434	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.831000	0.00743	-2.018000	0.00943	-0.382000	0.06688	GAG		0.532	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			5	34	0	0	0	1	0	5	34				
SLC26A3	1811	broad.mit.edu	37	7	107431510	107431510	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:107431510G>A	ENST00000340010.5	-	5	737	c.553C>T	c.(553-555)Ctt>Ttt	p.L185F	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L150F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	185					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATTCCAGAAAGCACTGTGACT	0.493																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(553-555)Ctt>Ttt		solute carrier family 26 (anion exchanger), member 3							73.0	63.0	67.0					7																	107431510		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107431510G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.553C>T	7.37:g.107431510G>A	ENSP00000345873:p.Leu185Phe					SLC26A3_ENST00000422236.2_Missense_Mutation_p.L150F	p.L185F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			5	737	-			185						Missense_Mutation	SNP	ENST00000340010.5	37	c.553C>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585393	0.28268	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.95412	-3.59;-3.7	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.94958	0.8369	M	0.75150	2.29	0.54753	D	0.999987	P;P	0.39003	0.468;0.654	B;B	0.40375	0.323;0.327	D	0.94110	0.7370	10	0.42905	T	0.14	.	14.8865	0.70572	0.0688:0.0:0.9312:0.0	.	150;185	G5E9U3;P40879	.;S26A3_HUMAN	F	150;185	ENSP00000415817:L150F;ENSP00000345873:L185F	ENSP00000345873:L185F	L	-	1	0	SLC26A3	107218746	1.000000	0.71417	0.883000	0.34634	0.025000	0.11179	3.569000	0.53827	1.426000	0.47256	-0.216000	0.12614	CTT		0.493	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		6	28	0	0	0	1	0	6	28				
ZNF70	7621	broad.mit.edu	37	22	24086389	24086389	+	Silent	SNP	G	G	A	rs372898022		TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr22:24086389G>A	ENST00000341976.3	-	2	1399	c.939C>T	c.(937-939)tgC>tgT	p.C313C		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGGCCTTCCCGCACTCATCGC	0.552																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(937-939)tgC>tgT		zinc finger protein 70		G		0,4406		0,0,2203	129.0	112.0	118.0		939	-6.9	0.7	22		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF70	NM_021916.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		313/447	24086389	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086389G>A	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.939C>T	22.37:g.24086389G>A							p.C313C	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	1399	-			313						Silent	SNP	ENST00000341976.3	37	c.939C>T	CCDS13812.1																																																																																				0.552	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		15	59	0	0	0	1	0	15	59				
ARAP2	116984	broad.mit.edu	37	4	36130197	36130197	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr4:36130197G>A	ENST00000303965.4	-	21	4087	c.3598C>T	c.(3598-3600)Ctg>Ttg	p.L1200L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1200	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTAGTAAGCAGTGCATCATCA	0.383																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(3598-3600)Ctg>Ttg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							114.0	110.0	111.0					4																	36130197		2203	4300	6503	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36130197G>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3598C>T	4.37:g.36130197G>A							p.L1200L	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			21	4087	-			1200			Rho-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.3598C>T	CCDS3441.1																																																																																				0.383	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		13	44	0	0	0	1	0	13	44				
STYXL1	51657	broad.mit.edu	37	7	75633123	75633123	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:75633123G>A	ENST00000248600.1	-	7	992	c.650C>T	c.(649-651)cCg>cTg	p.P217L	STYXL1_ENST00000431581.1_Missense_Mutation_p.P217L|STYXL1_ENST00000359697.3_Missense_Mutation_p.P217L|STYXL1_ENST00000451157.1_Missense_Mutation_p.P217L|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Missense_Mutation_p.P121L	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	217	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CTGGGCTTCCGGGGAATCTTC	0.537																																						ENST00000451157.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(649-651)cCg>cTg		serine/threonine/tyrosine interacting-like 1							146.0	106.0	119.0					7																	75633123		2203	4300	6503	SO:0001583	missense	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75633123G>A	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.650C>T	7.37:g.75633123G>A	ENSP00000248600:p.Pro217Leu					STYXL1_ENST00000431581.1_Missense_Mutation_p.P217L|STYXL1_ENST00000359697.3_Missense_Mutation_p.P217L|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Missense_Mutation_p.P121L|STYXL1_ENST00000248600.1_Missense_Mutation_p.P217L	p.P217L			Q9Y6J8	STYL1_HUMAN			7	819	-			217			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	c.650C>T	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	G	3.290	-0.145239	0.06627	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	3.74	-1.94	0.07571	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.752924	0.13178	N	0.407733	T	0.22742	0.0549	L	0.56396	1.775	0.09310	N	1	B;B;B;B;B;B	0.26809	0.16;0.02;0.062;0.013;0.011;0.014	B;B;B;B;B;B	0.24006	0.05;0.024;0.021;0.009;0.021;0.014	T	0.35549	-0.9784	10	0.11794	T	0.64	-0.0616	8.2963	0.31986	0.7067:0.0:0.2933:0.0	.	217;217;217;121;217;121	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8;Q7Z3H6	.;.;.;.;STYL1_HUMAN;.	L	217;217;121;217;217;172;217	ENSP00000248600:P217L;ENSP00000352726:P217L;ENSP00000343383:P121L;ENSP00000392221:P217L;ENSP00000406073:P172L;ENSP00000411812:P217L	ENSP00000248600:P217L	P	-	2	0	STYXL1	75471059	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.234000	0.02931	-0.406000	0.07588	0.563000	0.77884	CCG		0.537	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		11	31	0	0	0	1	0	11	31				
MYH8	4626	broad.mit.edu	37	17	10302114	10302114	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:10302114G>C	ENST00000403437.2	-	29	4046	c.3952C>G	c.(3952-3954)Ctg>Gtg	p.L1318V	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1318					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGATGTTTCAGCTCTTCAATC	0.393									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3952-3954)Ctg>Gtg		myosin, heavy chain 8, skeletal muscle, perinatal							92.0	84.0	87.0					17																	10302114		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10302114G>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3952C>G	17.37:g.10302114G>C	ENSP00000384330:p.Leu1318Val					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.L1318V	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			29	4046	-			1318					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3952C>G	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656016	0.67586	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79940	-1.32	5.28	4.3	0.51218	Myosin tail (1);	0.000000	0.33496	U	0.004841	D	0.83580	0.5285	M	0.85777	2.775	0.45415	D	0.998395	B	0.27380	0.177	B	0.37451	0.25	D	0.83499	0.0074	10	0.66056	D	0.02	.	9.7373	0.40395	0.0723:0.0:0.7857:0.142	.	1318	P13535	MYH8_HUMAN	V	1318	ENSP00000384330:L1318V	ENSP00000252173:L1318V	L	-	1	2	MYH8	10242839	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.819000	0.55686	1.426000	0.47256	0.655000	0.94253	CTG		0.393	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		13	56	0	0	0	1	0	13	56				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	9	1	0	2.56e-06	1	2.82256e-06	4	9				
ATPAF2	91647	broad.mit.edu	37	17	17921927	17921927	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:17921927C>T	ENST00000474627.3	-	8	960	c.806G>A	c.(805-807)gGc>gAc	p.G269D	ATPAF2_ENST00000469327.1_5'Flank|ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	269					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GAAGAGGGTGCCGGCGGCGGT	0.602																																						ENST00000474627.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8						c.(805-807)gGc>gAc		ATP synthase mitochondrial F1 complex assembly factor 2							91.0	97.0	95.0					17																	17921927		2203	4300	6503	SO:0001583	missense	91647				proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding	g.chr17:17921927C>T	AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"""Mitochondrial respiratory chain complex assembly factors"""	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.806G>A	17.37:g.17921927C>T	ENSP00000417190:p.Gly269Asp					ATPAF2_ENST00000585101.1_Intron	p.G269D	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN			8	960	-	all_neural(463;0.228)		269					A6NDE5|A8K2J2|Q6XYC7	Missense_Mutation	SNP	ENST00000474627.3	37	c.806G>A	CCDS32585.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068134	0.76301	.	.	ENSG00000171953	ENST00000474627	T	0.76709	-1.04	5.16	5.16	0.70880	ATPase assembly, ATP12, domain (1);	0.045003	0.85682	D	0.000000	D	0.83741	0.5320	M	0.78637	2.42	0.80722	D	1	D	0.57899	0.981	P	0.52109	0.69	D	0.86374	0.1725	10	0.72032	D	0.01	0.0413	15.0653	0.71989	0.0:0.8577:0.1423:0.0	.	269	Q8N5M1	ATPF2_HUMAN	D	269	ENSP00000417190:G269D	ENSP00000417190:G269D	G	-	2	0	ATPAF2	17862652	1.000000	0.71417	0.060000	0.19600	0.550000	0.35303	5.948000	0.70249	2.404000	0.81709	0.561000	0.74099	GGC		0.602	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3	NM_145691		19	77	0	0	0	1	0	19	77				
PCDH15	65217	broad.mit.edu	37	10	55591154	55591154	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr10:55591154C>G	ENST00000320301.6	-	30	4517	c.4123G>C	c.(4123-4125)Ggg>Cgg	p.G1375R	PCDH15_ENST00000395430.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.G1382R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G986R|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1375R|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1380R|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1353R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1304R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1338R|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1382R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1375					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACAAGGCCCCTTCTGTGTAT	0.493										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4144-4146)Ggg>Cgg		protocadherin-related 15							301.0	255.0	270.0					10																	55591154		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55591154C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4123G>C	10.37:g.55591154C>G	ENSP00000322604:p.Gly1375Arg	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1353R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1382R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1375R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1338R|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1380R|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1304R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1375R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G986R|PCDH15_ENST00000463095.1_5'UTR	p.G1382R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			31	4538	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1375					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4144G>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981593	0.93044	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.59083	0.45;0.49;0.44;0.44;0.4;0.33;0.31;0.35;0.31;0.3;0.29	5.75	5.75	0.90469	.	.	.	.	.	T	0.69333	0.3099	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.999;0.997;0.999;0.999;1.0;1.0;1.0;1.0;0.999;0.999;0.999	T	0.71069	-0.4699	9	0.72032	D	0.01	.	19.539	0.95267	0.0:1.0:0.0:0.0	.	1353;1375;1375;1380;1304;1338;1375;1375;1382;1382;1375;1380;1375	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	1382;1380;1375;1375;986;1382;1338;1375;1353;1375;1375;1380;1304	ENSP00000363076:G1382R;ENSP00000410304:G1380R;ENSP00000378826:G1375R;ENSP00000386693:G986R;ENSP00000378832:G1382R;ENSP00000378820:G1338R;ENSP00000354950:G1375R;ENSP00000378821:G1353R;ENSP00000322604:G1375R;ENSP00000378818:G1375R;ENSP00000412628:G1304R	ENSP00000322604:G1375R	G	-	1	0	PCDH15	55261160	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.814000	0.86154	2.709000	0.92574	0.585000	0.79938	GGG		0.493	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		5	82	0	0	0	1	0	5	82				
DNAH9	1770	broad.mit.edu	37	17	11522871	11522871	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:11522871A>G	ENST00000262442.4	+	6	1191	c.1123A>G	c.(1123-1125)Aat>Gat	p.N375D	DNAH9_ENST00000454412.2_Missense_Mutation_p.N375D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	375	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAGGCCTCTAATTATCTCAG	0.433																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1123-1125)Aat>Gat		dynein, axonemal, heavy chain 9							101.0	103.0	102.0					17																	11522871		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11522871A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1123A>G	17.37:g.11522871A>G	ENSP00000262442:p.Asn375Asp					DNAH9_ENST00000454412.2_Missense_Mutation_p.N375D|DNAH9_ENST00000579406.1_3'UTR	p.N375D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	6	1191	+		Breast(5;0.0122)|all_epithelial(5;0.131)	375			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1123A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	5.947	0.358719	0.11239	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.55413	0.52;0.52	5.95	-1.68	0.08212	Dynein heavy chain, domain-1 (1);	1.374330	0.04356	N	0.356524	T	0.44623	0.1302	L	0.49126	1.545	0.09310	N	1	B	0.31705	0.336	B	0.32022	0.139	T	0.21759	-1.0236	10	0.13108	T	0.6	.	9.2666	0.37645	0.5266:0.0985:0.3749:0.0	.	375	Q9NYC9	DYH9_HUMAN	D	375	ENSP00000262442:N375D;ENSP00000414874:N375D	ENSP00000262442:N375D	N	+	1	0	DNAH9	11463596	0.000000	0.05858	0.006000	0.13384	0.326000	0.28443	-0.002000	0.12924	-0.696000	0.05098	-1.256000	0.01477	AAT		0.433	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		18	81	0	0	0	1	0	18	81				
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-162)gcccgc>gcGCCccgc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup					KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR	p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1177_1178	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	53			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		3	3						3	3	---	---	---	---
KMT2E	55904	broad.mit.edu	37	7	104747889	104747890	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:104747889_104747890delAA	ENST00000311117.3	+	22	3530_3531	c.2985_2986delAA	c.(2983-2988)ataaagfs	p.K996fs	CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Frame_Shift_Del_p.K996fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.K996fs|KMT2E_ENST00000334914.7_Frame_Shift_Del_p.K51fs	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	996					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TGCAAGAAATAAAGACTATTGG	0.406																																						ENST00000334877.4																			0											c.(2983-2988)atagfs		lysine (K)-specific methyltransferase 2E																																				SO:0001589	frameshift_variant	55904							g.chr7:104747889_104747890delAA	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2985_2986delAA	7.37:g.104747889_104747890delAA	ENSP00000312379:p.Lys996fs					KMT2E_ENST00000334914.7_Frame_Shift_Del_p.IK50fs|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.IK995fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.IK995fs	p.IK995fs							22	3519_3520	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Del	DEL	ENST00000311117.3	37	c.2985_2986delAA	CCDS34723.1																																																																																				0.406	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			14	58						14	58	---	---	---	---
ZMYND11	10771	broad.mit.edu	37	10	288038	288041	+	Frame_Shift_Del	DEL	CAAT	CAAT	-			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr10:288038_288041delCAAT	ENST00000397962.3	+	10	1337_1340	c.909_912delCAAT	c.(907-912)gacaatfs	p.DN303fs	ZMYND11_ENST00000381604.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000381602.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000397959.3_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000602682.1_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000535374.1_Frame_Shift_Del_p.DN98fs|ZMYND11_ENST00000381607.4_Frame_Shift_Del_p.DN209fs|ZMYND11_ENST00000509513.2_Frame_Shift_Del_p.DN302fs|ZMYND11_ENST00000403354.1_Frame_Shift_Del_p.DN223fs|ZMYND11_ENST00000381584.1_Frame_Shift_Del_p.DN286fs|ZMYND11_ENST00000545619.1_Frame_Shift_Del_p.DN183fs|ZMYND11_ENST00000381591.1_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000558098.2_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000402736.1_Frame_Shift_Del_p.DN272fs|ZMYND11_ENST00000309776.4_Frame_Shift_Del_p.DN263fs			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	303	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGAAAGAAGACAATCAAGTCGACG	0.426																																						ENST00000309776.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24						c.(787-792)gafs		zinc finger, MYND-type containing 11																																				SO:0001589	frameshift_variant	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:288038_288041delCAAT	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.909_912delCAAT	10.37:g.288038_288041delCAAT	ENSP00000381053:p.Asp303fs					ZMYND11_ENST00000381584.1_Frame_Shift_Del_p.DN286fs|ZMYND11_ENST00000397959.3_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000509513.2_Frame_Shift_Del_p.DN302fs|ZMYND11_ENST00000402736.1_Frame_Shift_Del_p.DN272fs|ZMYND11_ENST00000545619.1_Frame_Shift_Del_p.DN183fs|ZMYND11_ENST00000381604.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000558098.2_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000403354.1_Frame_Shift_Del_p.DN223fs|ZMYND11_ENST00000381602.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000397962.3_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000602682.1_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000381607.4_Frame_Shift_Del_p.DN209fs|ZMYND11_ENST00000381591.1_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000535374.1_Frame_Shift_Del_p.DN98fs	p.DN263fs	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	10	1337_1340	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	263			PWWP.		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Frame_Shift_Del	DEL	ENST00000397962.3	37	c.789_792delCAAT	CCDS7052.2																																																																																				0.426	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		15	73						15	73	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	5						3	5	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47699392	47699392	+	Frame_Shift_Del	DEL	T	T	-	rs201537546		TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:47699392delT	ENST00000393328.2	-	4	481	c.116delA	c.(115-117)aatfs	p.N40fs	SPOP_ENST00000393331.3_Frame_Shift_Del_p.N40fs|SPOP_ENST00000503676.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000504102.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Frame_Shift_Del_p.N40fs	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	40	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GCTAAAGTTATTGATGGTCCA	0.368										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(115-117)atfs		speckle-type POZ protein							62.0	58.0	60.0					17																	47699392		2203	4300	6503	SO:0001589	frameshift_variant	8405				mRNA processing	nucleus	protein binding	g.chr17:47699392delT	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.116delA	17.37:g.47699392delT	ENSP00000377001:p.Asn40fs	Prostate(2;0.17)				SPOP_ENST00000504102.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000503676.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000347630.2_Frame_Shift_Del_p.N40fs|SPOP_ENST00000393328.2_Frame_Shift_Del_p.N40fs|SPOP_ENST00000513080.1_5'UTR	p.N40fs	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			5	586	-			40			MATH.		B2R6S3|D3DTW7|Q53HJ1	Frame_Shift_Del	DEL	ENST00000393328.2	37	c.116delA	CCDS11551.1																																																																																				0.368	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		22	61						22	61	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155709	12155709	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr19:12155709delT	ENST00000547628.1	-	4	644	c.507delA	c.(505-507)aaafs	p.K169fs	ZNF878_ENST00000602107.1_Frame_Shift_Del_p.K216fs|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						ATTCATAGGGTTTTTTTGCAG	0.413																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(646-648)aafs		zinc finger protein 878							142.0	157.0	152.0					19																	12155709		2099	4253	6352	SO:0001589	frameshift_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155709delT		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.507delA	19.37:g.12155709delT	ENSP00000447931:p.Lys169fs					ZNF878_ENST00000547628.1_Frame_Shift_Del_p.K169fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA	p.K216fs			C9JN71	ZN878_HUMAN			5	647	-			169						Frame_Shift_Del	DEL	ENST00000547628.1	37	c.648delA	CCDS45984.2																																																																																				0.413	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		7	272						7	272	---	---	---	---
NUMBL	9253	broad.mit.edu	37	19	41173866	41173868	+	In_Frame_Del	DEL	TGC	TGC	-	rs201081747	byFrequency	TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr19:41173866_41173868delTGC	ENST00000252891.4	-	10	1502_1504	c.1335_1337delGCA	c.(1333-1338)cagcaa>caa	p.445_446QQ>Q	NUMBL_ENST00000598779.1_In_Frame_Del_p.404_405QQ>Q|NUMBL_ENST00000540131.1_In_Frame_Del_p.404_405QQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	445	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TGAGgctgcttgctgctgttgct	0.67														104	0.0207668	0.0144	0.0331	5008	,	,		15968	0.0		0.0507	False		,,,				2504	0.0112					ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(1333-1338)caa>ca		numb homolog (Drosophila)-like				86,4074		5,76,1999						-4.0	0.1			9	263,7789		20,223,3783	no	coding	NUMBL	NM_004756.3		25,299,5782	A1A1,A1R,RR		3.2663,2.0673,2.8578				349,11863				SO:0001651	inframe_deletion	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41173866_41173868delTGC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1335_1337delGCA	19.37:g.41173869_41173871delTGC	ENSP00000252891:p.Gln446del					NUMBL_ENST00000598779.1_In_Frame_Del_p.QQ404del|NUMBL_ENST00000540131.1_In_Frame_Del_p.QQ404del	p.QQ445del	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		10	1502_1504	-			445			Poly-Gln.		Q7Z4J9	In_Frame_Del	DEL	ENST00000252891.4	37	c.1335_1337delGCA	CCDS12561.1																																																																																				0.670	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		2	4						2	4	---	---	---	---
