#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
CCDC33	80125	broad.mit.edu	37	15	74623324	74623324	+	Missense_Mutation	SNP	G	G	T	rs370369621		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr15:74623324G>T	ENST00000398814.3	+	14	1979	c.1548G>T	c.(1546-1548)aaG>aaT	p.K516N	CCDC33_ENST00000558821.1_Missense_Mutation_p.K109N|CCDC33_ENST00000321288.5_Missense_Mutation_p.K719N|CCDC33_ENST00000268082.4_Missense_Mutation_p.K109N	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	719										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTCACAGAAGAATGATCGAG	0.607																																						ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2155-2157)aaG>aaT		coiled-coil domain containing 33		G	ASN/LYS,ASN/LYS	1,3987		0,1,1993	17.0	20.0	19.0		1548,327	0.3	1.0	15		19	0,8328		0,0,4164	no	missense,missense	CCDC33	NM_025055.3,NM_182791.2	94,94	0,1,6157	TT,TG,GG		0.0,0.0251,0.0081	benign,benign	516/756,109/368	74623324	1,12315	1994	4164	6158	SO:0001583	missense	80125						protein binding	g.chr15:74623324G>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1548G>T	15.37:g.74623324G>T	ENSP00000381795:p.Lys516Asn					CCDC33_ENST00000268082.4_Missense_Mutation_p.K109N|CCDC33_ENST00000558821.1_Missense_Mutation_p.K109N|CCDC33_ENST00000398814.3_Missense_Mutation_p.K516N	p.K719N			Q8N5R6	CCD33_HUMAN			16	2157	+			719					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.2157G>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921966	0.33908	2.51E-4	0.0	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.36699	1.24;1.87;1.52;1.49	4.95	0.319	0.15873	.	0.000000	0.85682	D	0.000000	T	0.27098	0.0664	L	0.56124	1.755	0.44247	D	0.99709	B;B;B;B	0.25719	0.046;0.057;0.132;0.069	B;B;B;B	0.24701	0.04;0.055;0.035;0.027	T	0.05989	-1.0852	10	0.51188	T	0.08	.	3.9047	0.09177	0.3778:0.0:0.4543:0.168	.	109;109;719;516	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	N	719;516;109;109	ENSP00000325012:K719N;ENSP00000381795:K516N;ENSP00000325661:K109N;ENSP00000268082:K109N	ENSP00000268082:K109N	K	+	3	2	CCDC33	72410377	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	0.407000	0.21049	0.154000	0.19237	-0.279000	0.10071	AAG		0.607	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		4	9	1	0	0.00024832	1	0.000255624	4	9				
PAH	5053	broad.mit.edu	37	12	103246665	103246665	+	Missense_Mutation	SNP	C	C	T	rs62642908		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr12:103246665C>T	ENST00000553106.1	-	7	1242	c.770G>A	c.(769-771)gGc>gAc	p.G257D	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Missense_Mutation_p.G252D	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	257			G -> C (in PKU).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAAGGCCAGGCCACCCAAGAA	0.537																																						ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27	GRCh37	CM010966|CM973039	PAH	M	rs62642908	c.(769-771)gGc>gAc		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						101.0	103.0	103.0					12																	103246665		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103246665C>T	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.770G>A	12.37:g.103246665C>T	ENSP00000448059:p.Gly257Asp					PAH_ENST00000307000.2_Missense_Mutation_p.G252D	p.G257D	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			7	1242	-			257		G -> C (in PKU).			Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.770G>A	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	C	35	5.470787	0.96274	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99598	-6.26;-6.26	5.72	5.72	0.89469	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97510	1.0066	10	0.87932	D	0	-23.1287	19.8761	0.96870	0.0:1.0:0.0:0.0	.	257	P00439	PH4H_HUMAN	D	257;252	ENSP00000448059:G257D;ENSP00000303500:G252D	ENSP00000303500:G252D	G	-	2	0	PAH	101770795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.704000	0.92352	0.557000	0.71058	GGC		0.537	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			19	43	0	0	0	1	0	19	43				
ANKRD11	29123	broad.mit.edu	37	16	89349484	89349484	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr16:89349484G>A	ENST00000301030.4	-	9	3926	c.3466C>T	c.(3466-3468)Cgg>Tgg	p.R1156W	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1156W	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1156	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TAGGCCTCCCGTCCTTCCTCC	0.612																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3466-3468)Cgg>Tgg		ankyrin repeat domain 11							74.0	70.0	71.0					16																	89349484		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89349484G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3466C>T	16.37:g.89349484G>A	ENSP00000301030:p.Arg1156Trp					ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1156W	p.R1156W	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3926	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1156			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.3466C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682901	0.29872	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.38722	1.12;1.12	5.14	-4.37	0.03633	.	0.659455	0.13816	N	0.360759	T	0.41834	0.1176	L	0.36672	1.1	0.09310	N	1	D	0.65815	0.995	P	0.50378	0.639	T	0.52946	-0.8507	10	0.87932	D	0	.	18.5657	0.91115	0.0:0.0:0.6934:0.3066	.	1156	Q6UB99	ANR11_HUMAN	W	1156	ENSP00000301030:R1156W;ENSP00000367581:R1156W	ENSP00000301030:R1156W	R	-	1	2	ANKRD11	87876985	0.012000	0.17670	0.000000	0.03702	0.006000	0.05464	0.436000	0.21526	-1.080000	0.03109	-0.262000	0.10625	CGG		0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		4	87	0	0	0	1	0	4	87				
RHCE	6006	broad.mit.edu	37	1	25718594	25718594	+	Silent	SNP	G	G	A	rs376509301		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr1:25718594G>A	ENST00000294413.7	-	4	583	c.525C>T	c.(523-525)ttC>ttT	p.F175F	RHCE_ENST00000374352.2_Silent_p.F159F|RHCE_ENST00000349438.4_Silent_p.F175F|RHCE_ENST00000349320.3_Silent_p.F159F|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000243186.6_Silent_p.F175F|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000425135.1_Silent_p.F175F|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000413854.1_Silent_p.F175F	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	175						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AATAGGCTGCGAACACGTAGA	0.532																																						ENST00000349320.3																			0				endometrium(8)|large_intestine(6)|lung(3)	17						c.(475-477)ttC>ttT		Rh blood group, CcEe antigens		G	,,,	1,4405	2.1+/-5.4	0,1,2202	247.0	200.0	216.0		525,,,525	-0.0	1.0	1		216	0,8600		0,0,4300	no	coding-synonymous,intron,intron,coding-synonymous	RHCE	NM_020485.4,NM_138616.3,NM_138617.3,NM_138618.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	175/418,,,175/355	25718594	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6006					integral to plasma membrane		g.chr1:25718594G>A	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.525C>T	1.37:g.25718594G>A						RHCE_ENST00000413854.1_Silent_p.F175F|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000349438.4_Silent_p.F175F|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000294413.7_Silent_p.F175F|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000374352.2_Silent_p.F159F|RHCE_ENST00000243186.6_Silent_p.F175F|RHCE_ENST00000425135.1_Silent_p.F175F	p.F159F			P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	6	865	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	175					A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Silent	SNP	ENST00000294413.7	37	c.477C>T	CCDS30635.1																																																																																				0.532	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485		59	68	0	0	0	1	0	59	68				
FBXO31	79791	broad.mit.edu	37	16	87367623	87367623	+	Silent	SNP	C	C	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr16:87367623C>T	ENST00000311635.7	-	8	1278	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	RP11-178L8.4_ENST00000568879.1_Missense_Mutation_p.R86K	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	422					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CGCCACCATCCTCACCAGGTG	0.736																																						ENST00000568879.1																			0											c.(256-258)aGg>aAg									22.0	24.0	23.0					16																	87367623		2195	4296	6491	SO:0001819	synonymous_variant	0							g.chr16:87367623C>T	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1266G>A	16.37:g.87367623C>T						FBXO31_ENST00000311635.7_Silent_p.E422E	p.R86K							1	256	-								Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.257G>A	CCDS32501.1																																																																																				0.736	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		21	18	0	0	0	1	0	21	18				
ERC2	26059	broad.mit.edu	37	3	56026189	56026189	+	Silent	SNP	G	G	A	rs530440071		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr3:56026189G>A	ENST00000288221.6	-	11	2406	c.2151C>T	c.(2149-2151)gaC>gaT	p.D717D		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	717						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGCCACACTCGTCGCGGTAGT	0.483																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2149-2151)gaC>gaT		ELKS/RAB6-interacting/CAST family member 2							194.0	189.0	191.0					3																	56026189		1912	4131	6043	SO:0001819	synonymous_variant	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56026189G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2151C>T	3.37:g.56026189G>A							p.D717D	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	11	2406	-			717					Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	37	c.2151C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	4.566	0.105101	0.08731	.	.	ENSG00000187672	ENST00000492584	.	.	.	5.68	0.391	0.16282	.	.	.	.	.	T	0.50480	0.1618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32851	-0.9891	4	.	.	.	-15.2797	4.9505	0.14011	0.552:0.0:0.2543:0.1938	.	.	.	.	M	368	.	.	T	-	2	0	ERC2	56001229	0.080000	0.21391	0.985000	0.45067	0.881000	0.50899	-0.463000	0.06696	-0.202000	0.10268	-0.224000	0.12420	ACG		0.483	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		15	139	0	0	0	1	0	15	139				
KHDRBS3	10656	broad.mit.edu	37	8	136561043	136561043	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr8:136561043A>G	ENST00000355849.5	+	4	781	c.371A>G	c.(370-372)aAt>aGt	p.N124S	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	124	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTCCATCTCAATGATGATCTC	0.393																																						ENST00000355849.5																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26						c.(370-372)aAt>aGt		KH domain containing, RNA binding, signal transduction associated 3							94.0	75.0	82.0					8																	136561043		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136561043A>G	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.371A>G	8.37:g.136561043A>G	ENSP00000348108:p.Asn124Ser					KHDRBS3_ENST00000520981.1_Intron	p.N124S	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		4	781	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		124			KH.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.371A>G	CCDS6374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.30|11.30	1.598776|1.598776	0.28445|0.28445	.|.	.|.	ENSG00000131773|ENSG00000131773	ENST00000524282|ENST00000355849;ENST00000524199;ENST00000517394	.|T;T;T	.|0.17691	.|2.26;2.26;2.26	5.91|5.91	5.91|5.91	0.95273|0.95273	.|K Homology (1);	.|0.084773	.|0.85682	.|D	.|0.000000	T|T	0.13884|0.13884	0.0336|0.0336	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	.|B;B	.|0.19445	.|0.036;0.003	.|B;B	.|0.24394	.|0.053;0.007	T|T	0.12863|0.12863	-1.0531|-1.0531	5|10	.|0.16896	.|T	.|0.51	-20.5533|-20.5533	15.528|15.528	0.75928|0.75928	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|124;124	.|O75525-2;O75525	.|.;KHDR3_HUMAN	V|S	39|124;96;97	.|ENSP00000348108:N124S;ENSP00000431022:N96S;ENSP00000430284:N97S	.|ENSP00000348108:N124S	M|N	+|+	1|2	0|0	KHDRBS3|KHDRBS3	136630225|136630225	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.956000|0.956000	0.61745|0.61745	6.291000|6.291000	0.72719|0.72719	2.263000|2.263000	0.75096|0.75096	0.528000|0.528000	0.53228|0.53228	ATG|AAT		0.393	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			9	71	0	0	0	1	0	9	71				
PIGR	5284	broad.mit.edu	37	1	207112705	207112705	+	Silent	SNP	C	C	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr1:207112705C>T	ENST00000356495.4	-	3	330	c.147G>A	c.(145-147)cgG>cgA	p.R49R		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	49	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCGGGTGTGCCGGTTGACAG	0.567																																						ENST00000356495.4																			0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(145-147)cgG>cgA		polymeric immunoglobulin receptor							77.0	77.0	77.0					1																	207112705		2203	4300	6503	SO:0001819	synonymous_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207112705C>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.147G>A	1.37:g.207112705C>T							p.R49R	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN			3	330	-			49			Ig-like V-type 1.		Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	c.147G>A	CCDS1474.1																																																																																				0.567	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		4	66	0	0	0	1	0	4	66				
EPHB6	2051	broad.mit.edu	37	7	142566372	142566372	+	Missense_Mutation	SNP	G	G	A	rs370383805		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr7:142566372G>A	ENST00000392957.2	+	15	2948	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T	EPHB6_ENST00000411471.2_Missense_Mutation_p.A444T|EPHB6_ENST00000442129.1_Missense_Mutation_p.A721T	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	721	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGGCCGGGCCGCAGTGCTGGG	0.687																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(2161-2163)Gca>Aca		EPH receptor B6		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	28.0	29.0	29.0		2161	3.2	0.0	7		29	0,8600		0,0,4300	no	missense	EPHB6	NM_004445.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	721/1022	142566372	1,13005	2203	4300	6503	SO:0001583	missense	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142566372G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2161G>A	7.37:g.142566372G>A	ENSP00000376684:p.Ala721Thr					EPHB6_ENST00000442129.1_Missense_Mutation_p.A721T|EPHB6_ENST00000411471.2_Missense_Mutation_p.A444T	p.A721T	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			15	2948	+	Melanoma(164;0.059)		721			Protein kinase.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2161G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761654	0.49468	2.27E-4	0.0	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.82893	-1.66;-1.66;-1.66	5.15	3.23	0.37069	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.325024	0.22280	N	0.062130	T	0.69142	0.3078	N	0.11064	0.09	0.09310	N	1	D;P	0.56521	0.976;0.92	P;B	0.45538	0.484;0.169	T	0.63786	-0.6558	10	0.87932	D	0	.	8.6425	0.33985	0.0801:0.0:0.7691:0.1508	.	721;444	O15197;O15197-2	EPHB6_HUMAN;.	T	721;721;444	ENSP00000376684:A721T;ENSP00000410789:A721T;ENSP00000409061:A444T	ENSP00000376684:A721T	A	+	1	0	EPHB6	142276494	0.998000	0.40836	0.014000	0.15608	0.385000	0.30292	3.494000	0.53273	1.179000	0.42884	0.491000	0.48974	GCA		0.687	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			3	21	0	0	0	1	0	3	21				
FLG	2312	broad.mit.edu	37	1	152283044	152283044	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr1:152283044A>C	ENST00000368799.1	-	3	4353	c.4318T>G	c.(4318-4320)Tct>Gct	p.S1440A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1440	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGGAAAGACCTTGAACGT	0.587									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4318-4320)Tct>Gct		filaggrin							204.0	199.0	201.0					1																	152283044		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283044A>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4318T>G	1.37:g.152283044A>C	ENSP00000357789:p.Ser1440Ala					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1440A	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4353	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1440			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4318T>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.458826	0.26248	.	.	ENSG00000143631	ENST00000368799	T	0.02177	4.41	3.1	-6.21	0.02065	.	.	.	.	.	T	0.00608	0.0020	M	0.78916	2.43	0.09310	N	1	B	0.22800	0.075	B	0.15870	0.014	T	0.51537	-0.8693	9	0.07482	T	0.82	.	0.8473	0.01164	0.2915:0.3268:0.2213:0.1603	.	1440	P20930	FILA_HUMAN	A	1440	ENSP00000357789:S1440A	ENSP00000357789:S1440A	S	-	1	0	FLG	150549668	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.885000	0.04161	-1.477000	0.01872	-0.424000	0.05967	TCT		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		79	111	0	0	0	1	0	79	111				
RIMS2	9699	broad.mit.edu	37	8	105263256	105263256	+	Silent	SNP	G	G	A	rs143698299		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr8:105263256G>A	ENST00000436393.2	+	27	3991	c.3750G>A	c.(3748-3750)ccG>ccA	p.P1250P	RIMS2_ENST00000262231.10_Silent_p.P1071P|RIMS2_ENST00000339750.2_Silent_p.P168P|RIMS2_ENST00000507740.1_Silent_p.P1046P|RIMS2_ENST00000406091.3_Silent_p.P1232P			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1294					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCAAGCACCGTATGTAAAAG	0.408										HNSCC(12;0.0054)			A|||	1	0.000199681	0.0	0.0	5008	,	,		18235	0.0		0.001	False		,,,				2504	0.0					ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3136-3138)ccG>ccA		regulating synaptic membrane exocytosis 2		A	,	1,3745		0,1,1872	102.0	89.0	93.0		3696,3138	-10.7	0.0	8	dbSNP_134	93	1,8231		0,1,4115	no	coding-synonymous,coding-synonymous	RIMS2	NM_001100117.2,NM_014677.4	,	0,2,5987	AA,AG,GG		0.0121,0.0267,0.0167	,	1232/1350,1046/1164	105263256	2,11976	1873	4116	5989	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105263256G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3750G>A	8.37:g.105263256G>A		HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Silent_p.P1071P|RIMS2_ENST00000406091.3_Silent_p.P1232P|RIMS2_ENST00000436393.2_Silent_p.P1250P|RIMS2_ENST00000339750.2_Silent_p.P168P	p.P1046P	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		21	3374	+			1294					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.3138G>A																																																																																					0.408	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		35	39	0	0	0	1	0	35	39				
KCNT1	57582	broad.mit.edu	37	9	138642849	138642849	+	Silent	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr9:138642849G>A	ENST00000263604.3	+	4	339	c.339G>A	c.(337-339)gtG>gtA	p.V113V	KCNT1_ENST00000490355.2_Silent_p.V113V|KCNT1_ENST00000491806.2_Silent_p.V99V|KCNT1_ENST00000487664.1_Silent_p.V84V|KCNT1_ENST00000488444.2_Silent_p.V113V|KCNT1_ENST00000298480.5_Silent_p.V132V|KCNT1_ENST00000371757.2_Silent_p.V132V|KCNT1_ENST00000486577.2_Silent_p.V93V			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	113					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCTACATTGTGCGCGTCCTGC	0.701																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(394-396)gtG>gtA		potassium channel, subfamily T, member 1							94.0	86.0	89.0					9																	138642849		2203	4300	6503	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138642849G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.339G>A	9.37:g.138642849G>A						KCNT1_ENST00000488444.2_Silent_p.V113V|KCNT1_ENST00000487664.1_Silent_p.V84V|KCNT1_ENST00000486577.2_Silent_p.V93V|KCNT1_ENST00000263604.3_Silent_p.V113V|KCNT1_ENST00000371757.2_Silent_p.V132V|KCNT1_ENST00000491806.2_Silent_p.V99V|KCNT1_ENST00000490355.2_Silent_p.V113V	p.V132V			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	4	470	+		Myeloproliferative disorder(178;0.0821)	132					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.396G>A																																																																																					0.701	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		32	82	0	0	0	1	0	32	82				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			36	50	0	0	0	1	0	36	50				
THBS4	7060	broad.mit.edu	37	5	79355295	79355295	+	Silent	SNP	A	A	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr5:79355295A>C	ENST00000350881.2	+	6	955	c.765A>C	c.(763-765)atA>atC	p.I255I	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.I164I	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	255					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GAAACACCATAGCTGAATGCC	0.443																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(763-765)atA>atC		thrombospondin 4							129.0	123.0	125.0					5																	79355295		2203	4300	6503	SO:0001819	synonymous_variant	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79355295A>C		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.765A>C	5.37:g.79355295A>C						THBS4_ENST00000511733.1_Silent_p.I164I|CTD-2201I18.1_ENST00000503007.1_RNA	p.I255I	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	6	955	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	255					B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	c.765A>C	CCDS4049.1																																																																																				0.443	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			38	57	0	0	0	1	0	38	57				
DFNB59	494513	broad.mit.edu	37	2	179323278	179323278	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr2:179323278A>T	ENST00000409117.3	+	5	947	c.591A>T	c.(589-591)aaA>aaT	p.K197N	DFNB59_ENST00000605419.1_3'UTR|DFNB59_ENST00000375129.4_Missense_Mutation_p.K197N	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	197					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GAAGGGACAAAGCTATTGTTT	0.353																																						ENST00000409117.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18						c.(589-591)aaA>aaT		deafness, autosomal recessive 59							112.0	110.0	111.0					2																	179323278		1846	4098	5944	SO:0001583	missense	494513				sensory perception of sound			g.chr2:179323278A>T	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.591A>T	2.37:g.179323278A>T	ENSP00000386647:p.Lys197Asn					DFNB59_ENST00000375129.4_Missense_Mutation_p.K197N|DFNB59_ENST00000605419.1_3'UTR	p.K197N	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		5	947	+			197					A0PK14|B9EJE2	Missense_Mutation	SNP	ENST00000409117.3	37	c.591A>T	CCDS42787.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.585220	0.66105	.	.	ENSG00000204311	ENST00000409117;ENST00000375129	T;T	0.25250	1.81;1.81	5.48	2.7	0.31948	.	0.000000	0.35124	U	0.003427	T	0.32194	0.0821	L	0.47716	1.5	0.51767	D	0.999932	P	0.48834	0.916	P	0.54060	0.741	T	0.01909	-1.1249	10	0.52906	T	0.07	-0.0177	8.7227	0.34449	0.8143:0.0:0.1857:0.0	.	197	Q0ZLH3	PJVK_HUMAN	N	197	ENSP00000386647:K197N;ENSP00000364271:K197N	ENSP00000364271:K197N	K	+	3	2	DFNB59	179031524	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.524000	0.35942	0.319000	0.23209	0.260000	0.18958	AAA		0.353	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			37	53	0	0	0	1	0	37	53				
MAN2B2	23324	broad.mit.edu	37	4	6578364	6578364	+	Silent	SNP	C	C	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr4:6578364C>T	ENST00000285599.3	+	2	234	c.198C>T	c.(196-198)cgC>cgT	p.R66R	MAN2B2_ENST00000504248.1_Silent_p.R66R	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	66					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AGCTGGCCCGCGGCCAGCAGC	0.627																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(196-198)cgC>cgT		mannosidase, alpha, class 2B, member 2							59.0	62.0	61.0					4																	6578364		2203	4300	6503	SO:0001819	synonymous_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6578364C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.198C>T	4.37:g.6578364C>T						MAN2B2_ENST00000504248.1_Silent_p.R66R	p.R66R	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			2	234	+			66					Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	c.198C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	2.107	-0.404625	0.04832	.	.	ENSG00000013288	ENST00000505907	.	.	.	3.89	-7.79	0.01218	.	.	.	.	.	T	0.15089	0.0364	.	.	.	0.24537	N	0.994085	.	.	.	.	.	.	T	0.20840	-1.0263	4	.	.	.	-9.2647	1.1794	0.01842	0.3625:0.1625:0.0955:0.3796	.	.	.	.	V	65	.	.	A	+	2	0	MAN2B2	6629265	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.329000	0.19698	-1.711000	0.01395	-1.056000	0.02311	GCG		0.627	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		56	60	0	0	0	1	0	56	60				
ZNF772	400720	broad.mit.edu	37	19	57985169	57985169	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr19:57985169T>C	ENST00000343280.4	-	5	1203	c.943A>G	c.(943-945)Atc>Gtc	p.I315V	ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.I203V|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000356584.3_Missense_Mutation_p.I274V|ZNF772_ENST00000600175.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		CCAGTGTGGATTCTCTGGTGC	0.448																																					Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(943-945)Atc>Gtc		zinc finger protein 772							114.0	111.0	112.0					19																	57985169		2203	4300	6503	SO:0001583	missense	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57985169T>C	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.943A>G	19.37:g.57985169T>C	ENSP00000341165:p.Ile315Val					AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.I203V|ZNF772_ENST00000356584.3_Missense_Mutation_p.I274V|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron	p.I315V	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	5	1203	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	315					A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	c.943A>G	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	T	8.486	0.860960	0.17178	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000356584;ENST00000291809	T;T;T	0.39229	1.09;3.22;3.22	3.54	3.54	0.40534	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34048	0.0884	N	0.02721	-0.515	0.80722	D	1	D;D;P	0.60575	0.958;0.988;0.898	P;D;D	0.68192	0.681;0.93;0.956	T	0.19224	-1.0312	9	0.25751	T	0.34	.	10.0965	0.42478	0.0:0.0:0.0:1.0	.	203;274;315	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	V	315;203;274;240	ENSP00000341165:I315V;ENSP00000395967:I203V;ENSP00000348992:I274V	ENSP00000291809:I240V	I	-	1	0	ZNF772	62676981	0.013000	0.17824	0.968000	0.41197	0.980000	0.70556	1.965000	0.40471	1.492000	0.48499	0.254000	0.18369	ATC		0.448	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		11	146	0	0	0	1	0	11	146				
PSMD2	5708	broad.mit.edu	37	3	184020270	184020270	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr3:184020270A>C	ENST00000310118.4	+	6	1375	c.817A>C	c.(817-819)Aat>Cat	p.N273H	PSMD2_ENST00000435761.1_Missense_Mutation_p.N114H|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.N143H	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	273					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	ATTGATGCTCAATGACATGGA	0.498																																					Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(817-819)Aat>Cat		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						101.0	92.0	95.0					3																	184020270		2203	4300	6503	SO:0001583	missense	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184020270A>C	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.817A>C	3.37:g.184020270A>C	ENSP00000310129:p.Asn273His					PSMD2_ENST00000439383.1_Missense_Mutation_p.N143H|PSMD2_ENST00000435761.1_Missense_Mutation_p.N114H|EIF2B5_ENST00000444495.1_Intron	p.N273H	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	1375	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		273					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.817A>C	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.774200	0.49786	.	.	ENSG00000175166	ENST00000310118;ENST00000417952;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.25085	1.82;1.82;1.82	5.37	5.37	0.77165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	M	0.77313	2.365	0.58432	D	0.999997	P;D	0.71674	0.882;0.998	P;D	0.78314	0.472;0.991	T	0.53143	-0.8480	10	0.59425	D	0.04	-22.8887	11.8795	0.52566	0.8697:0.0:0.0:0.1303	.	114;273	E9PCS3;Q13200	.;PSMD2_HUMAN	H	273;198;265;114;143	ENSP00000310129:N273H;ENSP00000402618:N114H;ENSP00000416028:N143H	ENSP00000310129:N273H	N	+	1	0	PSMD2	185502964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.027000	0.93706	2.257000	0.74773	0.438000	0.28831	AAT		0.498	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		5	39	0	0	0	1	0	5	39				
DDIAS	220042	broad.mit.edu	37	11	82643953	82643953	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr11:82643953A>T	ENST00000533655.1	+	6	1785	c.1573A>T	c.(1573-1575)Aat>Tat	p.N525Y	C11orf82_ENST00000329143.3_Missense_Mutation_p.N224Y|C11orf82_ENST00000430323.2_Missense_Mutation_p.N525Y|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		525					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TGTAAATCATAATGGAAGAGA	0.348																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(1573-1575)Aat>Tat		chromosome 11 open reading frame 82							29.0	27.0	28.0					11																	82643953		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82643953A>T																												ENST00000533655.1:c.1573A>T	11.37:g.82643953A>T	ENSP00000435421:p.Asn525Tyr					C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.N525Y|C11orf82_ENST00000329143.3_Missense_Mutation_p.N224Y|C11orf82_ENST00000525361.1_Intron	p.N525Y	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			6	1785	+			525					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.1573A>T	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	A	9.540	1.113164	0.20795	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.19532	2.41;2.41;2.14	6.17	0.033	0.14178	.	1.065910	0.07169	N	0.852121	T	0.17534	0.0421	L	0.54323	1.7	0.09310	N	1	B	0.20550	0.046	B	0.26693	0.072	T	0.40175	-0.9577	9	.	.	.	.	0.279	0.00242	0.3602:0.2257:0.1956:0.2186	.	525	Q8IXT1	NOXIN_HUMAN	Y	525;525;224	ENSP00000414687:N525Y;ENSP00000435421:N525Y;ENSP00000329930:N224Y	.	N	+	1	0	C11orf82	82321601	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.957000	0.29215	-0.023000	0.13963	0.533000	0.62120	AAT		0.348	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			13	22	0	0	0	1	0	13	22				
NPAP1	23742	broad.mit.edu	37	15	24923319	24923319	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr15:24923319A>G	ENST00000329468.2	+	1	2779	c.2305A>G	c.(2305-2307)Acc>Gcc	p.T769A		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	769					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCCAGGAGCCACCCCTCAACC	0.567																																						ENST00000329468.2																			0											c.(2305-2307)Acc>Gcc		nuclear pore associated protein 1							116.0	132.0	127.0					15																	24923319		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923319A>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2305A>G	15.37:g.24923319A>G	ENSP00000333735:p.Thr769Ala						p.T769A	NM_018958.2	NP_061831.2					1	2779	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2305A>G	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	4.048	0.006482	0.07866	.	.	ENSG00000185823	ENST00000329468	T	0.07114	3.22	2.23	-0.344	0.12628	.	.	.	.	.	T	0.03520	0.0101	N	0.22421	0.69	0.09310	N	1	P	0.35456	0.502	B	0.21708	0.036	T	0.40905	-0.9538	9	0.24483	T	0.36	.	1.9347	0.03334	0.5658:0.0:0.1678:0.2664	.	769	Q9NZP6	CO002_HUMAN	A	769	ENSP00000333735:T769A	ENSP00000333735:T769A	T	+	1	0	C15orf2	22474412	0.000000	0.05858	0.001000	0.08648	0.432000	0.31715	0.085000	0.14912	-0.098000	0.12285	0.352000	0.21897	ACC		0.567	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		5	198	0	0	0	1	0	5	198				
FAM199X	139231	broad.mit.edu	37	X	103411655	103411655	+	Silent	SNP	C	C	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chrX:103411655C>T	ENST00000493442.1	+	1	355	c.189C>T	c.(187-189)caC>caT	p.H63H		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	63										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						ACCGCTTCCACACCAACAGGT	0.672																																						ENST00000493442.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(187-189)caC>caT		family with sequence similarity 199, X-linked							38.0	30.0	33.0					X																	103411655		2202	4300	6502	SO:0001819	synonymous_variant	139231							g.chrX:103411655C>T	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.189C>T	X.37:g.103411655C>T							p.H63H	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN			1	355	+			63					Q8WVP6|Q96AV3	Silent	SNP	ENST00000493442.1	37	c.189C>T	CCDS35364.1																																																																																				0.672	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		3	21	0	0	0	1	0	3	21				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		41	7	0	0	0	1	0	41	7				
HERC2P3	283755	broad.mit.edu	37	15	20644818	20644818	+	RNA	SNP	A	A	G			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr15:20644818A>G	ENST00000428453.1	-	0	3129							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AAGAAGTCAAACAGCTTCTCC	0.532																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															95.0	49.0	66.0					15																	20644818		1510	2697	4207			0							g.chr15:20644818A>G	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644818A>G														0	3129	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.532	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		6	58	0	0	0	1	0	6	58				
FAM83B	222584	broad.mit.edu	37	6	54791239	54791239	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr6:54791239G>A	ENST00000306858.7	+	3	631	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	172										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCATCAACTCGAGGAGTATCT	0.333																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(514-516)cGa>cAa		family with sequence similarity 83, member B							111.0	114.0	113.0					6																	54791239		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54791239G>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.515G>A	6.37:g.54791239G>A	ENSP00000304078:p.Arg172Gln						p.R172Q	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			3	631	+	Lung NSC(77;0.0178)|Renal(3;0.122)		172					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.515G>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617308	0.87359	.	.	ENSG00000168143	ENST00000306858	T	0.19938	2.11	5.31	5.31	0.75309	.	0.060300	0.64402	D	0.000005	T	0.28433	0.0703	M	0.76328	2.33	0.44241	D	0.99708	D	0.63880	0.993	P	0.53988	0.739	T	0.04481	-1.0948	10	0.62326	D	0.03	-15.6132	13.2995	0.60317	0.0763:0.0:0.9237:0.0	.	172	Q5T0W9	FA83B_HUMAN	Q	172	ENSP00000304078:R172Q	ENSP00000304078:R172Q	R	+	2	0	FAM83B	54899198	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.439000	0.73430	2.483000	0.83821	0.563000	0.77884	CGA		0.333	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		42	49	0	0	0	1	0	42	49				
NCOA6	23054	broad.mit.edu	37	20	33364209	33364209	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr20:33364209C>A	ENST00000374796.2	-	5	2848	c.278G>T	c.(277-279)aGc>aTc	p.S93I	NCOA6_ENST00000359003.2_Missense_Mutation_p.S93I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	93	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CACACGCACGCTGTTCCAGGG	0.488																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(277-279)aGc>aTc		nuclear receptor coactivator 6							103.0	96.0	98.0					20																	33364209		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33364209C>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.278G>T	20.37:g.33364209C>A	ENSP00000363929:p.Ser93Ile					NCOA6_ENST00000359003.2_Missense_Mutation_p.S93I	p.S93I			Q14686	NCOA6_HUMAN			5	2848	-			93			CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.278G>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	36	5.660728	0.96734	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	T;T	0.60672	0.17;0.17	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.78666	0.4319	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.79538	-0.1762	10	0.87932	D	0	-8.9564	20.3242	0.98691	0.0:1.0:0.0:0.0	.	93;93	F6M2K2;Q14686	.;NCOA6_HUMAN	I	93	ENSP00000363929:S93I;ENSP00000351894:S93I	ENSP00000351894:S93I	S	-	2	0	NCOA6	32827870	1.000000	0.71417	0.986000	0.45419	0.956000	0.61745	7.776000	0.85560	2.882000	0.98803	0.655000	0.94253	AGC		0.488	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	87	1	0	0.014758	1	0.014758	4	87				
MYO7B	4648	broad.mit.edu	37	2	128394439	128394439	+	Missense_Mutation	SNP	C	C	T	rs201505994	byFrequency	TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr2:128394439C>T	ENST00000409816.2	+	45	6232	c.6200C>T	c.(6199-6201)gCg>gTg	p.A2067V	LIMS2_ENST00000494613.1_5'Flank|MYO7B_ENST00000428314.1_Missense_Mutation_p.A2067V|MYO7B_ENST00000409090.1_Missense_Mutation_p.A920V|MYO7B_ENST00000389524.4_Missense_Mutation_p.A2068V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2067	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTCCACATGGCGCTGGGGAGC	0.642													C|||	5	0.000998403	0.003	0.0	5008	,	,		15457	0.001		0.0	False		,,,				2504	0.0					ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(6202-6204)gCg>gTg		myosin VIIB		C	VAL/ALA	3,4195		0,3,2096	55.0	67.0	63.0		6200	-5.3	0.0	2		63	6,8454		0,6,4224	yes	missense	MYO7B	NM_001080527.1	64	0,9,6320	TT,TC,CC		0.0709,0.0715,0.0711	benign	2067/2117	128394439	9,12649	2099	4230	6329	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128394439C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.6200C>T	2.37:g.128394439C>T	ENSP00000386461:p.Ala2067Val					MYO7B_ENST00000409090.1_Missense_Mutation_p.A920V|MYO7B_ENST00000409816.2_Missense_Mutation_p.A2067V|MYO7B_ENST00000428314.1_Missense_Mutation_p.A2067V	p.A2068V			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	46	6256	+	Colorectal(110;0.1)		2067			FERM 2.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.6203C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	t	10.67	1.414322	0.25465	7.15E-4	7.09E-4	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816;ENST00000409090	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.36	-5.28	0.02755	FERM domain (1);Pleckstrin homology-type (1);	0.490922	0.22236	N	0.062743	T	0.57975	0.2090	N	0.11201	0.11	0.19775	N	0.999953	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.16188	-1.0411	10	0.35671	T	0.21	.	19.7687	0.96353	0.0:0.8313:0.0:0.1687	.	982;2067	B0I1T4;Q6PIF6	.;MYO7B_HUMAN	V	2068;2067;2067;920	ENSP00000374175:A2068V;ENSP00000415090:A2067V;ENSP00000386461:A2067V;ENSP00000386850:A920V	ENSP00000374175:A2068V	A	+	2	0	MYO7B	128110909	0.003000	0.15002	0.005000	0.12908	0.197000	0.23852	0.079000	0.14782	-0.821000	0.04312	-1.273000	0.01405	GCG		0.642	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		41	68	0	0	0	1	0	41	68				
ZNF32	7580	broad.mit.edu	37	10	44139670	44139670	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr10:44139670T>C	ENST00000395797.1	-	3	838	c.650A>G	c.(649-651)tAt>tGt	p.Y217C	ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.Y217C|ZNF32-AS2_ENST00000418966.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GGTACAGGCATAGGGCTTCAG	0.498																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(649-651)tAt>tGt		zinc finger protein 32							121.0	116.0	117.0					10																	44139670		2203	4300	6503	SO:0001583	missense	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44139670T>C	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.650A>G	10.37:g.44139670T>C	ENSP00000379143:p.Tyr217Cys					ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.Y217C|ZNF32-AS1_ENST00000453284.1_RNA	p.Y217C	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	838	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	217					Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	c.650A>G	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.696726	0.48202	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.69306	-0.39;-0.39	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000474	T	0.80465	0.4628	M	0.86268	2.805	0.37437	D	0.914265	D	0.89917	1.0	D	0.74023	0.982	D	0.84545	0.0641	10	0.87932	D	0	-20.9982	7.9188	0.29833	0.1829:0.0:0.0:0.8171	.	217	P17041	ZNF32_HUMAN	C	217	ENSP00000363556:Y217C;ENSP00000379143:Y217C	ENSP00000363556:Y217C	Y	-	2	0	ZNF32	43459676	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.261000	0.18442	2.319000	0.78375	0.533000	0.62120	TAT		0.498	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		10	48	0	0	0	1	0	10	48				
MYO1F	4542	broad.mit.edu	37	19	8609329	8609329	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr19:8609329C>G	ENST00000338257.8	-	14	1643	c.1376G>C	c.(1375-1377)aGc>aCc	p.S459T	AC092316.2_ENST00000581156.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	459	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTCCAAGACGCTCATGATGCC	0.672																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1375-1377)aGc>aCc		myosin IF							15.0	20.0	18.0					19																	8609329		2051	4204	6255	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8609329C>G	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1376G>C	19.37:g.8609329C>G	ENSP00000344871:p.Ser459Thr						p.S459T	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			14	1643	-			459			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.1376G>C	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	c	19.26	3.793035	0.70452	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.96011	-3.88	3.49	3.49	0.39957	Myosin head, motor domain (3);	0.111229	0.64402	U	0.000016	D	0.96281	0.8787	M	0.85299	2.745	0.58432	D	0.999995	P	0.42337	0.776	P	0.48334	0.574	D	0.96319	0.9235	10	0.49607	T	0.09	.	13.73	0.62781	0.0:1.0:0.0:0.0	.	459	O00160	MYO1F_HUMAN	T	504;459	ENSP00000344871:S459T	ENSP00000304899:S504T	S	-	2	0	MYO1F	8515329	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.439000	0.80444	1.781000	0.52344	0.290000	0.19541	AGC		0.672	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			12	20	0	0	0	1	0	12	20				
VWCE	220001	broad.mit.edu	37	11	61062455	61062455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr11:61062455delC	ENST00000335613.5	-	1	441	c.55delG	c.(55-57)gcafs	p.A19fs		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	19						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CGGGCTGGTGCCCCCGGCAGC	0.786																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(55-57)cafs		von Willebrand factor C and EGF domains							2.0	3.0	2.0					11																	61062455		1633	3388	5021	SO:0001589	frameshift_variant	220001					extracellular region	calcium ion binding	g.chr11:61062455delC	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.55delG	11.37:g.61062455delC	ENSP00000334186:p.Ala19fs						p.A19fs	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			1	441	-			19					A5PKV0|Q7Z7L6|Q86WK8	Frame_Shift_Del	DEL	ENST00000335613.5	37	c.55delG	CCDS8002.1																																																																																				0.786	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		2	4						2	4	---	---	---	---
TCF12	6938	broad.mit.edu	37	15	57523417	57523418	+	Frame_Shift_Ins	INS	-	-	TGGT			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr15:57523417_57523418insTGGT	ENST00000267811.5	+	9	951_952	c.647_648insTGGT	c.(646-651)ccaccafs	p.P217fs	TCF12_ENST00000537840.1_Frame_Shift_Ins_p.H27fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.P47fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.P217fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.P217fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.P217fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.P47fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.P213fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	217					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCTCCTAAGCCACCAACCAGTA	0.361			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(646-648)cccfs		transcription factor 12																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57523417_57523418insTGGT	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	Exception_encountered	15.37:g.57523417_57523418insTGGT	ENSP00000267811:p.Pro217fs					TCF12_ENST00000438423.2_Frame_Shift_Ins_p.P216fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.P212fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.P216fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.P216fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.P46fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.P27fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.P46fs|TCF12_ENST00000560764.1_3'UTR	p.P216fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	9	951_952	+		Colorectal(260;0.0907)	216					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Ins	INS	ENST00000267811.5	37	c.647_648insTGGT	CCDS10159.1																																																																																				0.361	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		32	85						32	85	---	---	---	---
ARHGAP44	9912	broad.mit.edu	37	17	12877480	12877480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr17:12877480delC	ENST00000379672.5	+	18	1916	c.1616delC	c.(1615-1617)gccfs	p.A539fs	ARHGAP44_ENST00000262444.9_Frame_Shift_Del_p.A539fs|ARHGAP44_ENST00000578087.1_3'UTR|RN7SL550P_ENST00000583299.1_RNA|ARHGAP44_ENST00000340825.3_Frame_Shift_Del_p.A533fs	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	539					exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GTGTCCTGCGCCCCGCCCTCC	0.726																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(1615-1617)gcfs		Rho GTPase activating protein 44							16.0	20.0	19.0					17																	12877480		1889	4015	5904	SO:0001589	frameshift_variant	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12877480delC		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1616delC	17.37:g.12877480delC	ENSP00000368994:p.Ala539fs					ARHGAP44_ENST00000340825.3_Frame_Shift_Del_p.A533fs|ARHGAP44_ENST00000262444.9_Frame_Shift_Del_p.A539fs	p.A539fs	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			18	1916	+			539					A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Frame_Shift_Del	DEL	ENST00000379672.5	37	c.1616delC	CCDS45616.1																																																																																				0.726	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		2	4						2	4	---	---	---	---
CDK5RAP1	51654	broad.mit.edu	37	20	31958332	31958333	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr20:31958332_31958333insCC	ENST00000357886.4	-	12	1559_1560	c.1406_1407insGG	c.(1405-1407)ggcfs	p.G469fs	CDK5RAP1_ENST00000346416.2_Frame_Shift_Ins_p.G455fs|CDK5RAP1_ENST00000544843.1_Intron|CDK5RAP1_ENST00000339269.5_Frame_Shift_Ins_p.G378fs|CDK5RAP1_ENST00000473997.1_Frame_Shift_Ins_p.G365fs			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	469					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CAAAGAGGAAGCCCATGTTGTA	0.545																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(1405-1407)gttfs		CDK5 regulatory subunit associated protein 1																																				SO:0001589	frameshift_variant	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31958332_31958333insCC	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1405_1406dupGG	20.37:g.31958333_31958334dupCC	ENSP00000350558:p.Gly469fs					CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Intron|CDK5RAP1_ENST00000339269.5_Frame_Shift_Ins_p.V378fs|CDK5RAP1_ENST00000452723.3_Frame_Shift_Ins_p.V365fs|CDK5RAP1_ENST00000346416.2_Frame_Shift_Ins_p.V455fs	p.V469fs			Q96SZ6	CK5P1_HUMAN			12	1559_1560	-			469					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Frame_Shift_Ins	INS	ENST00000357886.4	37	c.1406_1407insGG																																																																																					0.545	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		48	97						48	97	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76937426	76937426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chrX:76937426delA	ENST00000373344.5	-	9	3536	c.3322delT	c.(3322-3324)tcafs	p.S1110fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1072fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1110					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						TCAGATGATGAACAATCTTGT	0.353			"""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.(3322-3324)cafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						105.0	112.0	110.0					X																	76937426		2203	4292	6495	SO:0001589	frameshift_variant	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:76937426delA	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.3322delT	X.37:g.76937426delA	ENSP00000362441:p.Ser1110fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1072fs	p.S1110fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3536	-			1110					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3322delT	CCDS14434.1																																																																																				0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		99	40						99	40	---	---	---	---
