#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
IGHD	3495	broad.mit.edu	37	14	106306900	106306900	+	RNA	SNP	T	T	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr14:106306900T>C	ENST00000390556.2	-	0	927							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										ACGCTGGTCCTCCAGCCACAT	0.667																																						ENST00000390556.2																			0																				13.0	15.0	14.0					14																	106306900		2085	4162	6247			0							g.chr14:106306900T>C	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106306900T>C														0	927	-								Q6P4I8|Q8WU38	RNA	SNP	ENST00000390556.2	37																																																																																						0.667	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		3	5	0	0	0	0.150653	0	3	5				
SLC39A6	25800	broad.mit.edu	37	18	33706819	33706819	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr18:33706819G>C	ENST00000590986.1	-	2	441	c.152C>G	c.(151-153)tCc>tGc	p.S51C	SLC39A6_ENST00000269187.5_Missense_Mutation_p.S51C|SLC39A6_ENST00000440549.2_Intron			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	51					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TTGCCGTGTGGAAATTGCCAA	0.388																																						ENST00000269187.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						c.(151-153)tCc>tGc		solute carrier family 39 (zinc transporter), member 6							137.0	128.0	131.0					18																	33706819		1864	4092	5956	SO:0001583	missense	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33706819G>C	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.152C>G	18.37:g.33706819G>C	ENSP00000465915:p.Ser51Cys					SLC39A6_ENST00000590986.1_Missense_Mutation_p.S51C|SLC39A6_ENST00000440549.2_Intron	p.S51C	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN			2	365	-			51					B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	c.152C>G	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127963	0.20959	.	.	ENSG00000141424	ENST00000269187	T	0.23552	1.9	5.57	3.51	0.40186	.	0.523656	0.20768	N	0.086028	T	0.11410	0.0278	N	0.08118	0	0.22811	N	0.998702	B	0.12630	0.006	B	0.08055	0.003	T	0.08848	-1.0702	10	0.40728	T	0.16	-11.039	6.2453	0.20813	0.1029:0.3278:0.5693:0.0	.	51	Q13433	S39A6_HUMAN	C	51	ENSP00000269187:S51C	ENSP00000269187:S51C	S	-	2	0	SLC39A6	31960817	0.012000	0.17670	0.949000	0.38748	0.719000	0.41307	1.374000	0.34283	2.623000	0.88846	0.561000	0.74099	TCC		0.388	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			6	175	0	0	0	0.248553	0	6	175				
VPS13C	54832	broad.mit.edu	37	15	62302717	62302717	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:62302717C>A	ENST00000261517.5	-	13	1038	c.965G>T	c.(964-966)tGc>tTc	p.C322F	VPS13C_ENST00000395898.3_Missense_Mutation_p.C279F|VPS13C_ENST00000395896.4_Missense_Mutation_p.C322F|VPS13C_ENST00000249837.3_Missense_Mutation_p.C279F	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTATGTTGCAATCCAGTTT	0.393																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(964-966)tGc>tTc		vacuolar protein sorting 13 homolog C (S. cerevisiae)							239.0	208.0	218.0					15																	62302717		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62302717C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.965G>T	15.37:g.62302717C>A	ENSP00000261517:p.Cys322Phe					VPS13C_ENST00000395896.4_Missense_Mutation_p.C322F|VPS13C_ENST00000395898.3_Missense_Mutation_p.C279F|VPS13C_ENST00000249837.3_Missense_Mutation_p.C279F	p.C322F	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			13	1038	-			322						Missense_Mutation	SNP	ENST00000261517.5	37	c.965G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630676	0.28978	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.42513	0.97;0.97;1.14	5.37	3.44	0.39384	.	1.061880	0.07236	N	0.863448	T	0.38054	0.1026	N	0.25647	0.755	0.23063	N	0.998358	B;B;B;B	0.15930	0.015;0.015;0.015;0.009	B;B;B;B	0.25614	0.062;0.062;0.062;0.028	T	0.41627	-0.9498	10	0.37606	T	0.19	.	16.0621	0.80843	0.0:0.7468:0.2532:0.0	.	279;322;279;322	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	F	279;322;322;322	ENSP00000249837:C279F;ENSP00000261517:C322F;ENSP00000379233:C322F	ENSP00000249837:C279F	C	-	2	0	VPS13C	60090009	1.000000	0.71417	0.968000	0.41197	0.836000	0.47400	2.710000	0.47169	0.713000	0.32060	0.557000	0.71058	TGC		0.393	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		55	120	1	0	3.19069e-20	0.870114	4.33022e-20	55	120				
DNAJB11	51726	broad.mit.edu	37	3	186302222	186302222	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:186302222C>A	ENST00000439351.1	+	10	1785	c.856C>A	c.(856-858)Cat>Aat	p.H286N	DNAJB11_ENST00000265028.3_Missense_Mutation_p.H286N			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	286					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTTCTAGGTACATATTTCCCG	0.468																																						ENST00000439351.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(856-858)Cat>Aat		DnaJ (Hsp40) homolog, subfamily B, member 11							74.0	70.0	71.0					3																	186302222		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186302222C>A	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.856C>A	3.37:g.186302222C>A	ENSP00000414398:p.His286Asn					DNAJB11_ENST00000265028.3_Missense_Mutation_p.H286N	p.H286N			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	10	1785	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		286					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.856C>A	CCDS3277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.99|12.99	2.104565|2.104565	0.37145|0.37145	.|.	.|.	ENSG00000090520|ENSG00000090520	ENST00000439351;ENST00000265028|ENST00000418776	T;T|.	0.39406|.	1.08;1.08|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56659|0.56659	0.2000|0.2000	N|N	0.25789|0.25789	0.76|0.76	0.80722|0.80722	D|D	1|1	B|.	0.15141|.	0.012|.	B|.	0.25987|.	0.065|.	T|T	0.48258|0.48258	-0.9051|-0.9051	10|5	0.21540|.	T|.	0.41|.	-21.3595|-21.3595	18.1573|18.1573	0.89696|0.89696	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	286|.	Q9UBS4|.	DJB11_HUMAN|.	N|K	286|86	ENSP00000414398:H286N;ENSP00000265028:H286N|.	ENSP00000265028:H286N|.	H|T	+|+	1|2	0|0	DNAJB11|DNAJB11	187784916|187784916	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	5.691000|5.691000	0.68249|0.68249	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CAT|ACA		0.468	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			3	67	1	0	6.4e-05	0.115264	7.84516e-05	3	67				
MTHFR	4524	broad.mit.edu	37	1	11854817	11854817	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:11854817G>T	ENST00000376592.1	-	6	1263	c.1135C>A	c.(1135-1137)Cag>Aag	p.Q379K	MTHFR_ENST00000376585.1_Missense_Mutation_p.Q420K|MTHFR_ENST00000376583.3_Missense_Mutation_p.Q420K|MTHFR_ENST00000376590.3_Missense_Mutation_p.Q379K			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	379					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	TCCCACTCCTGGGTACGGTAG	0.582																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1135-1137)Cag>Aag		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						138.0	140.0	139.0					1																	11854817		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11854817G>T	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1135C>A	1.37:g.11854817G>T	ENSP00000365777:p.Gln379Lys					MTHFR_ENST00000376583.3_Missense_Mutation_p.Q420K|MTHFR_ENST00000376585.1_Missense_Mutation_p.Q420K|MTHFR_ENST00000376590.3_Missense_Mutation_p.Q379K	p.Q379K			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	6	1263	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	379					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.1135C>A	CCDS137.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969108	0.74131	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.66439	2.03	0.80722	D	1	B;P	0.45569	0.164;0.861	B;B	0.39339	0.042;0.297	T	0.73316	-0.4021	10	0.41790	T	0.15	.	17.4549	0.87604	0.0:0.0:1.0:0.0	.	379;420	P42898;Q5SNW6	MTHR_HUMAN;.	K	379;420;379;420	ENSP00000365777:Q379K;ENSP00000365767:Q420K;ENSP00000365775:Q379K;ENSP00000365770:Q420K	ENSP00000365767:Q420K	Q	-	1	0	MTHFR	11777404	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.282000	0.95840	2.407000	0.81776	0.462000	0.41574	CAG		0.582	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		11	174	1	0	1.58986e-06	0.361761	2.01383e-06	11	174				
MUC16	94025	broad.mit.edu	37	19	9069716	9069716	+	Silent	SNP	A	A	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:9069716A>C	ENST00000397910.4	-	3	17933	c.17730T>G	c.(17728-17730)acT>acG	p.T5910T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5912	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACACGCCCTTAGTACTTCTGC	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17728-17730)acT>acG		mucin 16, cell surface associated							127.0	119.0	122.0					19																	9069716		1975	4141	6116	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069716A>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17730T>G	19.37:g.9069716A>C							p.T5910T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	17933	-			5912			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.17730T>G	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		68	125	0	0	0	0.870114	0	68	125				
RBM39	9584	broad.mit.edu	37	20	34320047	34320047	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr20:34320047T>C	ENST00000253363.6	-	4	135	c.112A>G	c.(112-114)Agc>Ggc	p.S38G	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Missense_Mutation_p.S38G|RBM39_ENST00000361162.6_Missense_Mutation_p.S38G			Q14498	RBM39_HUMAN	RNA binding motif protein 39	38					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTGCTCTTGCTTTTTTTCCTC	0.398																																						ENST00000361162.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(112-114)Agc>Ggc		RNA binding motif protein 39							122.0	113.0	116.0					20																	34320047		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34320047T>C	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.112A>G	20.37:g.34320047T>C	ENSP00000253363:p.Ser38Gly					RBM39_ENST00000253363.6_Missense_Mutation_p.S38G|RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Missense_Mutation_p.S38G	p.S38G	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN			4	496	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		38					A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.112A>G	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	t	18.69	3.679031	0.68042	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927	T;T;T;T;T;T	0.43688	1.01;1.01;0.94;3.4;1.72;1.01	5.9	5.9	0.94986	.	0.036917	0.85682	N	0.000000	T	0.39279	0.1072	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.29037	0.139;0.139;0.218;0.139;0.231	B;B;B;B;B	0.27715	0.037;0.037;0.082;0.037;0.037	T	0.15521	-1.0434	10	0.23891	T	0.37	.	16.336	0.83060	0.0:0.0:0.0:1.0	.	38;38;38;38;14	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	G	38	ENSP00000253363:S38G;ENSP00000354437:S38G;ENSP00000436747:S38G;ENSP00000363150:S38G;ENSP00000406801:S38G;ENSP00000393493:S38G	ENSP00000253363:S38G	S	-	1	0	RBM39	33783461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.781000	0.68964	2.252000	0.74401	0.529000	0.55759	AGC		0.398	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		3	172	0	0	0	0.115264	0	3	172				
CFAP54	144535	broad.mit.edu	37	12	97137849	97137849	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:97137849G>A	ENST00000524981.4	+	55	7632	c.7609G>A	c.(7609-7611)Gca>Aca	p.A2537T				Q96N23	CL055_HUMAN		0																	CACTAAATATGCAAATCCATT	0.299																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(2962-2964)Gca>Aca									67.0	66.0	66.0					12																	97137849		2203	4299	6502	SO:0001583	missense	0							g.chr12:97137849G>A																												ENST00000524981.4:c.7609G>A	12.37:g.97137849G>A	ENSP00000431759:p.Ala2537Thr						p.A988T			Q6ZTY8	CL063_HUMAN			22	2962	+			962						Missense_Mutation	SNP	ENST00000524981.4	37	c.2962G>A		.	.	.	.	.	.	.	.	.	.	G	9.921	1.212298	0.22289	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.41	2.57	0.30868	.	0.511532	0.20785	N	0.085739	T	0.23886	0.0578	L	0.33485	1.01	0.26361	N	0.97704	B	0.23806	0.091	B	0.21546	0.035	T	0.18147	-1.0346	9	0.09843	T	0.71	-2.4034	4.2055	0.10486	0.2601:0.1743:0.5657:0.0	.	962	Q6ZTY8	CL063_HUMAN	T	2537;962	.	ENSP00000345466:A962T	A	+	1	0	C12orf63	95661980	0.496000	0.26059	1.000000	0.80357	0.905000	0.53344	1.362000	0.34148	0.654000	0.30846	0.561000	0.74099	GCA		0.299	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			10	82	0	0	0	0.335167	0	10	82				
DNAH8	1769	broad.mit.edu	37	6	38830127	38830127	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:38830127G>A	ENST00000359357.3	+	42	5806	c.5552G>A	c.(5551-5553)gGc>gAc	p.G1851D	DNAH8_ENST00000441566.1_Missense_Mutation_p.G1851D|DNAH8_ENST00000449981.2_Missense_Mutation_p.G2068D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1851	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCTGGCACTGGCAAAACAGAA	0.463																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(5551-5553)gGc>gAc		dynein, axonemal, heavy chain 8							132.0	130.0	131.0					6																	38830127		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38830127G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5552G>A	6.37:g.38830127G>A	ENSP00000352312:p.Gly1851Asp					DNAH8_ENST00000449981.2_Missense_Mutation_p.G2068D|DNAH8_ENST00000441566.1_Missense_Mutation_p.G1851D	p.G1851D							42	5806	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5552G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.415650	0.96092	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	D;D;D	0.92099	-2.97;-2.97;-2.97	6.04	6.04	0.98038	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97986	0.9337	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98519	1.0622	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1851	Q96JB1	DYH8_HUMAN	D	2056;2056;1851;1851	ENSP00000333363:G2056D;ENSP00000352312:G1851D;ENSP00000402294:G1851D	ENSP00000333363:G2056D	G	+	2	0	DNAH8	38938105	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.873000	0.98535	0.563000	0.77884	GGC		0.463	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		4	209	0	0	0	0.150653	0	4	209				
BBS12	166379	broad.mit.edu	37	4	123664857	123664857	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr4:123664857T>C	ENST00000314218.3	+	2	2003	c.1810T>C	c.(1810-1812)Tat>Cat	p.Y604H	BBS12_ENST00000542236.1_Missense_Mutation_p.Y604H	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	604					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AACTCTCCTATATAACACTGC	0.408									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(1810-1812)Tat>Cat		Bardet-Biedl syndrome 12							88.0	85.0	86.0					4																	123664857		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664857T>C	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1810T>C	4.37:g.123664857T>C	ENSP00000319062:p.Tyr604His					BBS12_ENST00000314218.3_Missense_Mutation_p.Y604H	p.Y604H	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	2191	+			604					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.1810T>C	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	T	5.299	0.240530	0.10023	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.69175	-0.38;-0.38	5.54	3.12	0.35913	.	1.330370	0.04564	N	0.392134	T	0.59742	0.2216	L	0.44542	1.39	0.09310	N	1	B	0.16396	0.017	B	0.13407	0.009	T	0.38564	-0.9655	10	0.18276	T	0.48	-29.1006	9.6893	0.40118	0.0:0.1399:0.0:0.8601	.	604	Q6ZW61	BBS12_HUMAN	H	604	ENSP00000319062:Y604H;ENSP00000438273:Y604H	ENSP00000319062:Y604H	Y	+	1	0	BBS12	123884307	0.462000	0.25791	0.000000	0.03702	0.180000	0.23129	2.736000	0.47385	0.407000	0.25591	0.482000	0.46254	TAT		0.408	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		6	85	0	0	0	0.217242	0	6	85				
STAT6	6778	broad.mit.edu	37	12	57493169	57493169	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:57493169C>A	ENST00000300134.3	-	16	2124	c.1799G>T	c.(1798-1800)cGc>cTc	p.R600L	STAT6_ENST00000537215.2_Missense_Mutation_p.R490L|STAT6_ENST00000454075.3_Missense_Mutation_p.R600L|STAT6_ENST00000538913.2_Missense_Mutation_p.R490L|STAT6_ENST00000543873.2_Missense_Mutation_p.R600L|STAT6_ENST00000556155.1_Missense_Mutation_p.R600L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	600	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCCCAGTGAGCGAATGGACAG	0.532																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(1798-1800)cGc>cTc		signal transducer and activator of transcription 6, interleukin-4 induced							94.0	97.0	96.0					12																	57493169		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57493169C>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1799G>T	12.37:g.57493169C>A	ENSP00000300134:p.Arg600Leu					STAT6_ENST00000537215.2_Missense_Mutation_p.R490L|STAT6_ENST00000538913.2_Missense_Mutation_p.R490L|STAT6_ENST00000454075.3_Missense_Mutation_p.R600L|STAT6_ENST00000543873.2_Missense_Mutation_p.R600L|STAT6_ENST00000556155.1_Missense_Mutation_p.R600L	p.R600L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			16	2124	-			600			SH2.		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.1799G>T	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167975	0.78339	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;D	0.96168	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-3.93	4.47	4.47	0.54385	SH2 motif (4);	0.194235	0.43260	D	0.000581	D	0.92064	0.7485	L	0.31120	0.905	0.47441	D	0.999429	P;P	0.42203	0.773;0.629	P;B	0.44518	0.452;0.305	D	0.91553	0.5258	10	0.54805	T	0.06	-16.8732	10.12	0.42614	0.1998:0.8002:0.0:0.0	.	600;600	A8K4S9;P42226	.;STAT6_HUMAN	L	600;490;490;600;600;490;600;490;28;600	ENSP00000300134:R600L;ENSP00000445409:R490L;ENSP00000438451:R600L;ENSP00000451742:R600L;ENSP00000444530:R490L;ENSP00000401486:R600L;ENSP00000450428:R28L	ENSP00000300134:R600L	R	-	2	0	STAT6	55779436	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.496000	0.66918	2.488000	0.83962	0.561000	0.74099	CGC		0.532	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		3	95	1	0	0.150653	0.150653	0.17089	3	95				
NUP37	79023	broad.mit.edu	37	12	102471196	102471196	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:102471196A>C	ENST00000552283.1	-	7	765	c.626T>G	c.(625-627)gTg>gGg	p.V209G	NUP37_ENST00000543021.1_5'Flank|NUP37_ENST00000251074.1_Missense_Mutation_p.V209G|RP11-554E23.4_ENST00000552707.1_RNA			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	209					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CATTAATGGCACTTGTTCTGA	0.403																																						ENST00000552283.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						c.(625-627)gTg>gGg		nucleoporin 37kDa							147.0	149.0	149.0					12																	102471196		2203	4300	6503	SO:0001583	missense	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102471196A>C	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.626T>G	12.37:g.102471196A>C	ENSP00000448054:p.Val209Gly					NUP37_ENST00000251074.1_Missense_Mutation_p.V209G	p.V209G			Q8NFH4	NUP37_HUMAN			7	765	-			209					Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	c.626T>G	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.530819	0.27387	.	.	ENSG00000075188	ENST00000552283;ENST00000251074	T;T	0.26067	1.76;1.76	6.17	2.0	0.26442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.682160	0.16970	N	0.192148	T	0.15262	0.0368	L	0.33485	1.01	0.43156	D	0.994931	B	0.02656	0.0	B	0.01281	0.0	T	0.09707	-1.0662	10	0.19590	T	0.45	0.0153	5.106	0.14785	0.5848:0.0:0.2856:0.1296	.	209	Q8NFH4	NUP37_HUMAN	G	209	ENSP00000448054:V209G;ENSP00000251074:V209G	ENSP00000251074:V209G	V	-	2	0	NUP37	100995326	0.527000	0.26306	0.767000	0.31495	0.972000	0.66771	0.628000	0.24522	0.408000	0.25621	0.533000	0.62120	GTG		0.403	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		6	191	0	0	0	0.248553	0	6	191				
SPOP	8405	broad.mit.edu	37	17	47688719	47688719	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr17:47688719C>A	ENST00000393328.2	-	7	946	c.581G>T	c.(580-582)tGg>tTg	p.W194L	SPOP_ENST00000503676.1_Missense_Mutation_p.W194L|SPOP_ENST00000393331.3_Missense_Mutation_p.W194L|SPOP_ENST00000347630.2_Missense_Mutation_p.W194L|SPOP_ENST00000504102.1_Missense_Mutation_p.W194L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	194	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Important for homodimerization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAATTCTCCCACAGTCCTCC	0.488										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(580-582)tGg>tTg		speckle-type POZ protein							137.0	141.0	140.0					17																	47688719		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47688719C>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.581G>T	17.37:g.47688719C>A	ENSP00000377001:p.Trp194Leu	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.W194L|SPOP_ENST00000503676.1_Missense_Mutation_p.W194L|SPOP_ENST00000347630.2_Missense_Mutation_p.W194L|SPOP_ENST00000504102.1_Missense_Mutation_p.W194L	p.W194L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			8	1051	-			194			BTB.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.581G>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477720	0.63849	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.46	5.46	0.80206	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.43942	0.1270	N	0.02665	-0.54	0.80722	D	1	B	0.25609	0.13	B	0.33521	0.165	T	0.47249	-0.9132	10	0.02654	T	1	-17.5986	19.0836	0.93192	0.0:1.0:0.0:0.0	.	194	O43791	SPOP_HUMAN	L	194;194;194;194;78;194;147;194;194	ENSP00000377001:W194L;ENSP00000377004:W194L;ENSP00000240327:W194L;ENSP00000425905:W194L;ENSP00000420908:W194L;ENSP00000426986:W194L;ENSP00000420960:W194L	ENSP00000240327:W194L	W	-	2	0	SPOP	45043718	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.603000	0.82811	2.847000	0.97988	0.591000	0.81541	TGG		0.488	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		5	320	1	0	0.184627	0.184627	0.206348	5	320				
ABCA1	19	broad.mit.edu	37	9	107593303	107593303	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr9:107593303C>A	ENST00000374736.3	-	14	2189	c.1795G>T	c.(1795-1797)Gtg>Ttg	p.V599L	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	599					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGCTCCACCACATCCTGCAAG	0.537																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1795-1797)Gtg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						156.0	132.0	140.0					9																	107593303		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593303C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1795G>T	9.37:g.107593303C>A	ENSP00000363868:p.Val599Leu						p.V599L	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2189	-			599					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.1795G>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020739	0.35606	.	.	ENSG00000165029	ENST00000374736	D	0.94417	-3.42	5.93	4.08	0.47627	.	0.179558	0.48286	D	0.000191	T	0.81446	0.4824	N	0.01146	-0.985	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.73075	-0.4097	10	0.13108	T	0.6	.	11.0863	0.48089	0.1297:0.8041:0.0:0.0662	.	599	O95477	ABCA1_HUMAN	L	599	ENSP00000363868:V599L	ENSP00000363868:V599L	V	-	1	0	ABCA1	106633124	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	3.208000	0.51114	0.828000	0.34709	0.561000	0.74099	GTG		0.537	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	154	1	0	0.150653	0.150653	0.17089	4	154				
KIFAP3	22920	broad.mit.edu	37	1	170003639	170003639	+	Splice_Site	SNP	T	T	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:170003639T>A	ENST00000361580.2	-	7	845		c.e7-2		KIFAP3_ENST00000538366.1_Splice_Site|KIFAP3_ENST00000367767.1_Splice_Site|KIFAP3_ENST00000367765.1_Splice_Site|KIFAP3_ENST00000490550.1_5'Flank	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAGAAAAGCTTTAAAGAAGA	0.284																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.e7-2		kinesin-associated protein 3							32.0	32.0	32.0					1																	170003639		2200	4290	6490	SO:0001630	splice_region_variant	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:170003639T>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.618-2A>T	1.37:g.170003639T>A						KIFAP3_ENST00000367767.1_Splice_Site|KIFAP3_ENST00000361580.2_Splice_Site|KIFAP3_ENST00000538366.1_Splice_Site		NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			7	1999	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)							B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Splice_Site	SNP	ENST00000361580.2	37		CCDS1288.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.349254	0.24426	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000538366	.	.	.	5.53	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5742	0.45217	0.0:0.0812:0.0:0.9188	.	.	.	.	.	-1	.	.	.	-	.	.	KIFAP3	168270263	1.000000	0.71417	0.757000	0.31301	0.147000	0.21601	7.211000	0.77933	1.002000	0.39104	-0.408000	0.06270	.		0.284	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970	Intron	29	38	0	0	0	0.760397	0	29	38				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	140	0	0	0	0.307466	0	6	140				
ANO2	57101	broad.mit.edu	37	12	5860068	5860068	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:5860068G>A	ENST00000356134.5	-	12	1186	c.1115C>T	c.(1114-1116)cCa>cTa	p.P372L	ANO2_ENST00000327087.8_Missense_Mutation_p.P371L|ANO2_ENST00000546188.1_Missense_Mutation_p.P372L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	376					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TACAGAAGATGGGATGAGGAA	0.348																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(1114-1116)cCa>cTa		anoctamin 2							82.0	76.0	78.0					12																	5860068		1837	4095	5932	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5860068G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1115C>T	12.37:g.5860068G>A	ENSP00000348453:p.Pro372Leu					ANO2_ENST00000356134.5_Missense_Mutation_p.P372L|ANO2_ENST00000327087.8_Missense_Mutation_p.P371L	p.P372L			Q9NQ90	ANO2_HUMAN			11	1186	-			376					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1115C>T		.	.	.	.	.	.	.	.	.	.	G	15.02	2.709738	0.48517	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.62639	0.01;0.01;0.01	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.72360	-0.4317	10	0.25106	T	0.35	.	18.3716	0.90408	0.0:0.0:1.0:0.0	.	371	Q9NQ90-3	.	L	371;372;372;376	ENSP00000314048:P371L;ENSP00000348453:P372L;ENSP00000440981:P372L	ENSP00000314048:P371L	P	-	2	0	ANO2	5730329	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.713000	0.98740	2.670000	0.90874	0.655000	0.94253	CCA		0.348	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		4	68	0	0	0	0.184627	0	4	68				
RDH8	50700	broad.mit.edu	37	19	10127828	10127828	+	Missense_Mutation	SNP	G	G	A	rs545999307		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:10127828G>A	ENST00000171214.1	+	2	448	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	RDH8_ENST00000591589.1_Missense_Mutation_p.V87M	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	67					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCAGCTGGACGTGTGCAGTGA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17778	0.001		0.0	False		,,,				2504	0.0					ENST00000591589.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(259-261)Gtg>Atg		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						80.0	69.0	73.0					19																	10127828		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10127828G>A	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.199G>A	19.37:g.10127828G>A	ENSP00000171214:p.Val67Met					RDH8_ENST00000171214.1_Missense_Mutation_p.V67M	p.V87M			Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		2	448	+			67					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.259G>A		.	.	.	.	.	.	.	.	.	.	G	23.3	4.405006	0.83230	.	.	ENSG00000080511	ENST00000171214	D	0.90900	-2.75	4.77	4.77	0.60923	NAD(P)-binding domain (1);	0.069192	0.64402	D	0.000018	D	0.95636	0.8581	M	0.87097	2.86	0.53688	D	0.999978	D	0.89917	1.0	D	0.79784	0.993	D	0.96411	0.9304	10	0.87932	D	0	.	15.3068	0.73998	0.0:0.0:1.0:0.0	.	67	Q9NYR8	RDH8_HUMAN	M	67	ENSP00000171214:V67M	ENSP00000171214:V67M	V	+	1	0	RDH8	9988828	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.300000	0.96151	2.190000	0.69967	0.655000	0.94253	GTG		0.627	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				25	24	0	0	0	0.693898	0	25	24				
TPBG	7162	broad.mit.edu	37	6	83075717	83075717	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:83075717A>G	ENST00000369750.3	+	2	1656	c.1039A>G	c.(1039-1041)Att>Gtt	p.I347V	TPBG_ENST00000535040.1_Missense_Mutation_p.I347V|TPBG_ENST00000543496.1_Missense_Mutation_p.I347V			Q13641	TPBG_HUMAN	trophoblast glycoprotein	347					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CTGTGACCCGATTCTTCCCCC	0.507																																						ENST00000369750.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(1039-1041)Att>Gtt		trophoblast glycoprotein							113.0	104.0	107.0					6																	83075717		2203	4300	6503	SO:0001583	missense	7162				cell adhesion	integral to plasma membrane		g.chr6:83075717A>G	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.1039A>G	6.37:g.83075717A>G	ENSP00000358765:p.Ile347Val					TPBG_ENST00000543496.1_Missense_Mutation_p.I347V|TPBG_ENST00000535040.1_Missense_Mutation_p.I347V	p.I347V			Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	2	1656	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	347					A8K555	Missense_Mutation	SNP	ENST00000369750.3	37	c.1039A>G	CCDS4995.1	.	.	.	.	.	.	.	.	.	.	A	0.039	-1.291828	0.01375	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	T;T;T	0.57273	0.41;0.41;0.41	5.94	-0.961	0.10337	.	1.217400	0.05609	N	0.577821	T	0.11580	0.0282	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18555	-1.0333	10	0.29301	T	0.29	-3.4547	6.377	0.21513	0.5038:0.2402:0.256:0.0	.	347	Q13641	TPBG_HUMAN	V	347	ENSP00000441219:I347V;ENSP00000358765:I347V;ENSP00000440049:I347V	ENSP00000358765:I347V	I	+	1	0	TPBG	83132436	0.000000	0.05858	0.154000	0.22540	0.495000	0.33615	-0.348000	0.07740	0.127000	0.18452	0.528000	0.53228	ATT		0.507	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			6	135	0	0	0	0.217242	0	6	135				
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr17:7577532G>A	ENST00000269305.4	-	7	938	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000420246.2_Missense_Mutation_p.P250L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L	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	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)	GGTGAGGATGGGCCTCCGGTT	0.577		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		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"""		80	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(1)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)	large_intestine(14)|lung(10)|breast(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|skin(5)|ovary(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|liver(2)|urinary_tract(1)|eye(1)|peritoneum(1)|pancreas(1)|thyroid(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	CM973401	TP53	M		c.(748-750)cCc>cTc	Other conserved DNA damage response genes	tumor protein p53							154.0	112.0	126.0					17																	7577532		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.chr17:7577532G>A	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.749C>T	17.37:g.7577532G>A	ENSP00000269305:p.Pro250Leu	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_ENST00000269305.4_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L	p.P250L	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	881	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	250		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		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.749C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504438	0.85176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	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	0.99898	0.9951	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.996;0.998;0.998;1.0	D	0.96045	0.9027	10	0.87932	D	0	-1.5308	15.3618	0.74483	0.0:0.0:1.0:0.0	.	250;250;250;250;250	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	L	250;250;250;250;250;250;239;118	ENSP00000410739:P250L;ENSP00000352610:P250L;ENSP00000269305:P250L;ENSP00000398846:P250L;ENSP00000391127:P250L;ENSP00000391478:P250L;ENSP00000425104:P118L	ENSP00000269305:P250L	P	-	2	0	TP53	7518257	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.601000	0.98297	2.564000	0.86499	0.462000	0.41574	CCC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		76	17	0	0	0	0.870114	0	76	17				
CD163L1	283316	broad.mit.edu	37	12	7586027	7586027	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:7586027G>A	ENST00000313599.3	-	3	445	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CD163L1_ENST00000396630.1_Missense_Mutation_p.R130W|CD163L1_ENST00000416109.2_Missense_Mutation_p.R130W			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	130	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATTCCCGGTGTTGACAT	0.438																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(388-390)Cgg>Tgg		CD163 molecule-like 1							102.0	98.0	99.0					12																	7586027		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7586027G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.388C>T	12.37:g.7586027G>A	ENSP00000315945:p.Arg130Trp					CD163L1_ENST00000396630.1_Missense_Mutation_p.R130W|CD163L1_ENST00000416109.2_Missense_Mutation_p.R130W	p.R130W			Q9NR16	C163B_HUMAN			3	445	-			130			SRCR 1.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.388C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063165	0.36373	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000543276	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	2.22	-3.15	0.05233	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.347950	0.02643	U	0.105576	T	0.38746	0.1052	M	0.63208	1.945	0.09310	N	1	D;D	0.61697	0.99;0.99	P;P	0.48770	0.589;0.589	T	0.39901	-0.9591	10	0.62326	D	0.03	.	1.5184	0.02510	0.1225:0.208:0.3526:0.3168	.	130;130	E7EVK4;Q9NR16	.;C163B_HUMAN	W	130;130;130;34	ENSP00000315945:R130W;ENSP00000393474:R130W;ENSP00000379871:R130W;ENSP00000442328:R34W	ENSP00000315945:R130W	R	-	1	2	CD163L1	7477294	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-4.510000	0.00223	-0.855000	0.04125	0.563000	0.77884	CGG		0.438	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		6	212	0	0	0	0.217242	0	6	212				
DUSP27	92235	broad.mit.edu	37	1	167097454	167097454	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:167097454C>A	ENST00000361200.2	+	6	3252	c.3086C>A	c.(3085-3087)aCc>aAc	p.T1029N	DUSP27_ENST00000271385.5_Missense_Mutation_p.T1029N|DUSP27_ENST00000443333.1_Missense_Mutation_p.T1029N|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1029	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TACAACGAGACCTCAAGTTCC	0.562																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(3085-3087)aCc>aAc		dual specificity phosphatase 27 (putative)							45.0	48.0	47.0					1																	167097454		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097454C>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3086C>A	1.37:g.167097454C>A	ENSP00000354483:p.Thr1029Asn					DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.T1029N|DUSP27_ENST00000443333.1_Missense_Mutation_p.T1029N	p.T1029N			Q5VZP5	DUS27_HUMAN			6	3252	+			1029			Ser-rich.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3086C>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257824	0.39896	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03553	3.89;3.89;3.89	5.42	4.45	0.53987	.	0.000000	0.52532	D	0.000076	T	0.05364	0.0142	M	0.63428	1.95	0.29682	N	0.841591	D	0.69078	0.997	P	0.58013	0.831	T	0.14952	-1.0454	10	0.37606	T	0.19	-37.0572	11.3133	0.49377	0.0:0.8164:0.1836:0.0	.	1029	Q5VZP5	DUS27_HUMAN	N	1029	ENSP00000354483:T1029N;ENSP00000271385:T1029N;ENSP00000404874:T1029N	ENSP00000271385:T1029N	T	+	2	0	DUSP27	165364078	0.912000	0.30974	1.000000	0.80357	0.297000	0.27493	1.696000	0.37773	2.530000	0.85305	0.643000	0.83706	ACC		0.562	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		32	66	1	0	1.62565e-12	0.760397	2.13016e-12	32	66				
UBN2	254048	broad.mit.edu	37	7	138982568	138982568	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:138982568C>T	ENST00000473989.3	+	18	4030	c.4030C>T	c.(4030-4032)Cgg>Tgg	p.R1344W	UBN2_ENST00000288561.8_Missense_Mutation_p.R1261W	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1344						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAAATTACCACGGAAATCTCA	0.418																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(3781-3783)Cgg>Tgg		ubinuclein 2							104.0	95.0	98.0					7																	138982568		1910	4131	6041	SO:0001583	missense	254048							g.chr7:138982568C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.4030C>T	7.37:g.138982568C>T	ENSP00000418648:p.Arg1344Trp					UBN2_ENST00000473989.2_Missense_Mutation_p.R1344W	p.R1261W	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			18	4030	+			1344					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3781C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867977	0.72065	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.58940	0.37;0.3	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000008	T	0.68247	0.2980	L	0.40543	1.245	0.53688	D	0.999976	D	0.89917	1.0	D	0.77557	0.99	T	0.70687	-0.4803	10	0.87932	D	0	-9.143	14.8778	0.70507	0.1441:0.8559:0.0:0.0	.	1344	Q6ZU65	UBN2_HUMAN	W	1344;1261	ENSP00000418648:R1344W;ENSP00000288561:R1261W	ENSP00000288561:R1261W	R	+	1	2	UBN2	138633108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.695000	0.54749	2.541000	0.85698	0.561000	0.74099	CGG		0.418	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		23	41	0	0	0	0.717897	0	23	41				
TTN	7273	broad.mit.edu	37	2	179422826	179422826	+	Silent	SNP	A	A	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:179422826A>G	ENST00000591111.1	-	278	82556	c.82332T>C	c.(82330-82332)ctT>ctC	p.L27444L	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L20212L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.L29085L|TTN_ENST00000359218.5_Silent_p.L20145L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L20020L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.L26517L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27444					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTTGCCTTAAGGGGGACAC	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(87253-87255)ctT>ctC		titin							89.0	86.0	87.0					2																	179422826		1876	4108	5984	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179422826A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82332T>C	2.37:g.179422826A>G						TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.L27444L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.L20212L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.L20145L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.L20020L|TTN_ENST00000342992.6_Silent_p.L26517L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA	p.L29085L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		328	87479	-			27444			Fibronectin type-III 112.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.87255T>C																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	175	0	0	0	0.248553	0	7	175				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	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			49	81	0	0	0	0.870114	0	49	81				
GLDC	2731	broad.mit.edu	37	9	6644691	6644691	+	Splice_Site	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr9:6644691C>T	ENST00000321612.6	-	2	407	c.257G>A	c.(256-258)aGc>aAc	p.S86N	RP11-390F4.6_ENST00000413145.1_lincRNA	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	86					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TTCATCAATGCTCTAAAATTA	0.463																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.e2-1		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						66.0	63.0	64.0					9																	6644691		2203	4300	6503	SO:0001630	splice_region_variant	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6644691C>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.256-1G>A	9.37:g.6644691C>T							p.S86_splice	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	2	407	-		Acute lymphoblastic leukemia(23;0.161)	86					Q2M2F8	Splice_Site	SNP	ENST00000321612.6	37	c.255_splice	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635480	0.67130	.	.	ENSG00000178445	ENST00000321612	D	0.96104	-3.91	4.73	4.73	0.59995	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.176967	0.50627	D	0.000103	D	0.94351	0.8184	L	0.58583	1.82	0.58432	D	0.999997	B	0.18013	0.025	B	0.25987	0.065	D	0.92342	0.5882	10	0.51188	T	0.08	-18.3432	17.6738	0.88225	0.0:1.0:0.0:0.0	.	86	P23378	GCSP_HUMAN	N	86	ENSP00000370737:S86N	ENSP00000370737:S86N	S	-	2	0	GLDC	6634691	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.350000	0.52224	2.353000	0.79882	0.462000	0.41574	AGC		0.463	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170	Missense_Mutation	36	54	0	0	0	0.804634	0	36	54				
PRB1	5542	broad.mit.edu	37	12	11506852	11506852	+	Missense_Mutation	SNP	G	G	T	rs565362752		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:11506852G>T	ENST00000500254.2	-	3	222	c.185C>A	c.(184-186)cCa>cAa	p.P62Q	PRB1_ENST00000545626.1_Missense_Mutation_p.P62Q|PRB1_ENST00000546254.1_Missense_Mutation_p.P62Q	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCCTCCTTGTGGGGGTGGTCC	0.607													g|||	1	0.000199681	0.0	0.0	5008	,	,		15188	0.0		0.0	False		,,,				2504	0.001					ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(184-186)cCa>cAa		proline-rich protein BstNI subfamily 1							109.0	137.0	128.0					12																	11506852		2157	4252	6409	SO:0001583	missense	5542					extracellular region		g.chr12:11506852G>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.185C>A	12.37:g.11506852G>T	ENSP00000420826:p.Pro62Gln					PRB1_ENST00000545626.1_Missense_Mutation_p.P62Q|PRB1_ENST00000546254.1_Missense_Mutation_p.P62Q	p.P62Q	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	222	-			245			15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.185C>A	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	0.120	-1.126976	0.01770	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.05447	3.44;3.44;3.44	1.14	-2.28	0.06826	.	.	.	.	.	T	0.04588	0.0125	L	0.39514	1.22	0.09310	N	1	B;B;B	0.20052	0.041;0.041;0.041	B;B;B	0.09377	0.004;0.004;0.004	T	0.40515	-0.9559	9	0.72032	D	0.01	.	0.0863	0.00036	0.2801:0.1654:0.2284:0.3262	.	69;62;62	Q86YA1;G3V1R1;G3V1M9	.;.;.	Q	62	ENSP00000444249:P62Q;ENSP00000420826:P62Q;ENSP00000442127:P62Q	ENSP00000420826:P62Q	P	-	2	0	PRB1	11398119	0.004000	0.15560	0.000000	0.03702	0.039000	0.13416	-0.120000	0.10660	-2.795000	0.00354	-2.208000	0.00301	CCA		0.607	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		40	624	1	0	4.32679e-17	0.827153	5.76906e-17	40	624				
ZCCHC8	55596	broad.mit.edu	37	12	122958070	122958070	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:122958070G>C	ENST00000336229.4	-	14	2228	c.2098C>G	c.(2098-2100)Cag>Gag	p.Q700E	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.Q462E|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.Q462E|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.Q311E	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	700					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTGTTTTTCTGCTGGTTTCGG	0.373																																						ENST00000543897.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1384-1386)Cag>Gag		zinc finger, CCHC domain containing 8							107.0	96.0	99.0					12																	122958070		1829	4083	5912	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958070G>C	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.2098C>G	12.37:g.122958070G>C	ENSP00000337313:p.Gln700Glu					ZCCHC8_ENST00000536306.1_Missense_Mutation_p.Q462E|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.Q311E|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.Q700E	p.Q462E			Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	12	3739	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		700					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.1384C>G		.	.	.	.	.	.	.	.	.	.	G	19.43	3.825839	0.71143	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116	T;T;T;T	0.46451	0.9;0.9;0.87;0.89	5.88	5.88	0.94601	.	0.275476	0.42548	D	0.000694	T	0.43100	0.1232	M	0.72894	2.215	0.37962	D	0.932996	P	0.44734	0.842	B	0.31442	0.13	T	0.57814	-0.7746	10	0.62326	D	0.03	-20.3384	20.2422	0.98381	0.0:0.0:1.0:0.0	.	700	Q6NZY4	ZCHC8_HUMAN	E	462;462;700;311	ENSP00000441423:Q462E;ENSP00000438993:Q462E;ENSP00000337313:Q700E;ENSP00000440028:Q311E	ENSP00000337313:Q700E	Q	-	1	0	ZCCHC8	121524023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.012000	0.49575	2.788000	0.95919	0.650000	0.86243	CAG		0.373	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		33	54	0	0	0	0.740014	0	33	54				
ADPRM	56985	broad.mit.edu	37	17	10614361	10614361	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr17:10614361G>C	ENST00000379774.4	+	4	1020	c.929G>C	c.(928-930)gGc>gCc	p.G310A	ADPRM_ENST00000609540.1_3'UTR	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	310							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										CAAGCCTTTGGCACAGTTCAT	0.438																																						ENST00000379774.4																			0											c.(928-930)gGc>gCc		ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent							123.0	115.0	118.0					17																	10614361		2203	4300	6503	SO:0001583	missense	56985							g.chr17:10614361G>C	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.929G>C	17.37:g.10614361G>C	ENSP00000369099:p.Gly310Ala						p.G310A	NM_020233.4	NP_064618.3					4	1020	+								A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	37	c.929G>C	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	G	9.999	1.233043	0.22626	.	.	ENSG00000170222	ENST00000379774	D	0.93953	-3.32	5.82	3.8	0.43715	.	0.161390	0.53938	D	0.000052	D	0.85978	0.5823	N	0.17631	0.505	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.77827	-0.2443	10	0.13853	T	0.58	-6.1227	12.8396	0.57793	0.0:0.1254:0.744:0.1306	.	310	Q3LIE5	ADPRM_HUMAN	A	310	ENSP00000369099:G310A	ENSP00000369099:G310A	G	+	2	0	C17orf48	10555086	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	2.769000	0.47654	0.793000	0.33875	-1.398000	0.01145	GGC		0.438	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		45	77	0	0	0	0.870114	0	45	77				
PTPRC	5788	broad.mit.edu	37	1	198677313	198677313	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:198677313C>T	ENST00000367376.2	+	10	1121	c.950C>T	c.(949-951)aCt>aTt	p.T317I	PTPRC_ENST00000348564.6_Missense_Mutation_p.T158I|PTPRC_ENST00000594404.1_Missense_Mutation_p.T156I|PTPRC_ENST00000442510.2_Missense_Mutation_p.T319I|PTPRC_ENST00000352140.3_Missense_Mutation_p.T269I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	317					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAGCAGATACTACTATTTGT	0.294																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(949-951)aCt>aTt		protein tyrosine phosphatase, receptor type, C							62.0	63.0	63.0					1																	198677313		2201	4297	6498	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198677313C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.950C>T	1.37:g.198677313C>T	ENSP00000356346:p.Thr317Ile					PTPRC_ENST00000348564.6_Missense_Mutation_p.T158I|PTPRC_ENST00000442510.2_Missense_Mutation_p.T319I|PTPRC_ENST00000352140.3_Missense_Mutation_p.T269I|PTPRC_ENST00000594404.1_Missense_Mutation_p.T156I	p.T317I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			10	1121	+			317					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.950C>T		.	.	.	.	.	.	.	.	.	.	C	11.22	1.574228	0.28092	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.03358	3.96	5.01	2.11	0.27256	.	0.406531	0.20966	N	0.082472	T	0.09468	0.0233	M	0.65975	2.015	0.23445	N	0.997669	D;D;D;D;D	0.59357	0.976;0.985;0.985;0.959;0.968	P;P;P;P;P	0.56163	0.793;0.729;0.614;0.496;0.53	T	0.09122	-1.0689	9	.	.	.	.	6.9906	0.24753	0.0:0.7156:0.0:0.2844	.	253;253;158;269;317	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	I	319;253;269;269;203;317;251;156	ENSP00000193532:T269I	.	T	+	2	0	PTPRC	196943936	0.496000	0.26059	0.200000	0.23457	0.037000	0.13140	0.336000	0.19823	0.375000	0.24679	0.655000	0.94253	ACT		0.294	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				51	72	0	0	0	0.870114	0	51	72				
DNAH10	196385	broad.mit.edu	37	12	124401043	124401043	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:124401043G>A	ENST00000409039.3	+	62	10433	c.10408G>A	c.(10408-10410)Gag>Aag	p.E3470K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3470	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGCAGCTAGAGATGTCCAT	0.453																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(10408-10410)Gag>Aag		dynein, axonemal, heavy chain 10							126.0	130.0	128.0					12																	124401043		2034	4187	6221	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124401043G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10408G>A	12.37:g.124401043G>A	ENSP00000386770:p.Glu3470Lys						p.E3470K	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	62	10433	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3470			AAA 5 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.10408G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	35	5.519879	0.96416	.	.	ENSG00000197653	ENST00000409039	T	0.31247	1.5	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.65217	0.2670	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75728	-0.3216	10	0.87932	D	0	.	17.7267	0.88367	0.0:0.0:1.0:0.0	.	3470	Q8IVF4	DYH10_HUMAN	K	3470	ENSP00000386770:E3470K	ENSP00000386770:E3470K	E	+	1	0	DNAH10	122966996	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	9.869000	0.99810	2.177000	0.69029	0.561000	0.74099	GAG		0.453	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			13	169	0	0	0	0.479597	0	13	169				
ARID1A	8289	broad.mit.edu	37	1	27100207	27100207	+	Splice_Site	SNP	C	C	T	rs387906846		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:27100207C>T	ENST00000324856.7	+	16	4374	c.4003C>T	c.(4003-4005)Cga>Tga	p.R1335*	ARID1A_ENST00000374152.2_Splice_Site_p.R952*|ARID1A_ENST00000457599.2_Splice_Site_p.R1335*|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1335	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.R1335*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		gcagcagcaACGGTGAGTAAA	0.577			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	2	Substitution - Nonsense(2)	p.R1335*(2)	endometrium(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.e16+1		AT rich interactive domain 1A (SWI-like)							77.0	78.0	78.0					1																	27100207		2203	4300	6503	SO:0001630	splice_region_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100207C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4004+1C>T	1.37:g.27100207C>T						ARID1A_ENST00000457599.2_Splice_Site_p.R1335_splice|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Splice_Site_p.R952_splice	p.R1335_splice	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	16	4374	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1335			Gln-rich.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Splice_Site	SNP	ENST00000324856.7	37	c.4004_splice	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.995900|8.995900	0.99029|0.99029	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	5.4|5.4	4.47|4.47	0.54385|0.54385	.|.	0.157191|.	0.56097|.	D|.	0.000033|.	.|T	.|0.48409	.|0.1498	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45041	.|-0.9288	.|4	0.02654|.	T|.	1|.	0.3533|0.3533	4.3329|4.3329	0.11073|0.11073	0.1892:0.6214:0.0:0.1894|0.1892:0.6214:0.0:0.1894	.|.	.|.	.|.	.|.	X|M	1335;1335;952|231	.|.	ENSP00000320485:R1335X|.	R|T	+|+	1|2	2|0	ARID1A|ARID1A	26972794|26972794	0.973000|0.973000	0.33851|0.33851	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	2.562000|2.562000	0.45914|0.45914	1.240000|1.240000	0.43803|0.43803	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.577	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	Nonsense_Mutation	10	52	0	0	0	0.361761	0	10	52				
SETD5	55209	broad.mit.edu	37	3	9476091	9476091	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:9476091C>A	ENST00000406341.1	+	4	441	c.251C>A	c.(250-252)tCt>tAt	p.S84Y	SETD5_ENST00000407969.1_Missense_Mutation_p.S103Y|SETD5_ENST00000402198.1_Missense_Mutation_p.S84Y|SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000302463.6_5'UTR			Q9C0A6	SETD5_HUMAN	SET domain containing 5	84										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGCCCGAACTCTGAAGGAGAA	0.532																																						ENST00000402198.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(250-252)tCt>tAt		SET domain containing 5							113.0	122.0	119.0					3																	9476091		1985	4162	6147	SO:0001583	missense	55209							g.chr3:9476091C>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.251C>A	3.37:g.9476091C>A	ENSP00000383939:p.Ser84Tyr					SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.S103Y|SETD5_ENST00000406341.1_Missense_Mutation_p.S84Y|SETD5_ENST00000402466.1_5'UTR	p.S84Y	NM_001080517.1	NP_001073986.1	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	5	686	+	Medulloblastoma(99;0.227)		84					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.251C>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437828	0.62955	.	.	ENSG00000168137	ENST00000450326;ENST00000402198;ENST00000406341;ENST00000407969	T;D;D;D	0.95518	-0.02;-3.73;-3.73;-2.9	5.69	5.69	0.88448	.	.	.	.	.	D	0.97198	0.9084	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.945	D	0.97374	0.9978	9	0.62326	D	0.03	-0.0391	19.4099	0.94667	0.0:1.0:0.0:0.0	.	84;103	Q9C0A6;E7EWN3	SETD5_HUMAN;.	Y	84;84;84;103	ENSP00000413786:S84Y;ENSP00000385852:S84Y;ENSP00000383939:S84Y;ENSP00000384114:S103Y	ENSP00000385852:S84Y	S	+	2	0	SETD5	9451091	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.378000	0.79679	2.679000	0.91253	0.591000	0.81541	TCT		0.532	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		28	56	1	0	7.07758e-08	0.681144	9.11688e-08	28	56				
SLC30A4	7782	broad.mit.edu	37	15	45777517	45777517	+	Splice_Site	SNP	T	T	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:45777517T>A	ENST00000261867.4	-	8	1450		c.e8-2		RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4						regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TTCCAGGAACTGCAATGTCAA	0.318																																						ENST00000261867.4																			0				endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15						c.e8-2		solute carrier family 30 (zinc transporter), member 4							87.0	72.0	77.0					15																	45777517		2197	4298	6495	SO:0001630	splice_region_variant	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45777517T>A		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.1136-2A>T	15.37:g.45777517T>A						RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA		NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	8	1450	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)						Q8TC39	Splice_Site	SNP	ENST00000261867.4	37		CCDS10125.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.289242	0.80914	.	.	ENSG00000104154	ENST00000261867	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6572	0.77150	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC30A4	43564809	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.064000	0.76721	2.371000	0.80710	0.533000	0.62120	.		0.318	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1		Intron	6	59	0	0	0	0.248553	0	6	59				
RP11-423O2.5	0	broad.mit.edu	37	1	142803528	142803528	+	lincRNA	SNP	A	A	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:142803528A>C	ENST00000423385.1	-	0	1437																											TTTTTCTTTAATAGATGTTGG	0.264																																						ENST00000423385.1																			0																																																			0							g.chr1:142803528A>C																													1.37:g.142803528A>C														0	1437	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.264	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			27	267	0	0	0	0.740014	0	27	267				
SULT1C3	442038	broad.mit.edu	37	2	108881449	108881449	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:108881449T>C	ENST00000329106.2	+	6	790	c.790T>C	c.(790-792)Ttt>Ctt	p.F264L		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	264					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CATCTCCCCTTTTATGAGGAA	0.408																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(790-792)Ttt>Ctt		sulfotransferase family, cytosolic, 1C, member 3							132.0	116.0	121.0					2																	108881449		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108881449T>C	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.790T>C	2.37:g.108881449T>C	ENSP00000333310:p.Phe264Leu						p.F264L	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			6	790	+			264					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.790T>C	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603290	0.87157	.	.	ENSG00000196228	ENST00000329106	T	0.02421	4.3	4.9	4.9	0.64082	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000013	T	0.15869	0.0382	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.00356	-1.1793	10	0.54805	T	0.06	.	13.8396	0.63430	0.0:0.0:0.0:1.0	.	264	Q6IMI6	ST1C3_HUMAN	L	264	ENSP00000333310:F264L	ENSP00000333310:F264L	F	+	1	0	SULT1C3	108247881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.482000	0.73613	2.048000	0.60808	0.533000	0.62120	TTT		0.408	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		6	153	0	0	0	0.278610	0	6	153				
MAGEL2	54551	broad.mit.edu	37	15	23890478	23890478	+	Silent	SNP	A	A	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:23890478A>G	ENST00000532292.1	-	1	697	c.603T>C	c.(601-603)ttT>ttC	p.F201F		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	84					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGGGGCCTTTAAAGGCATTCA	0.577																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(601-603)ttT>ttC		MAGE-like 2							67.0	72.0	70.0					15																	23890478		1992	4177	6169	SO:0001819	synonymous_variant	54551							g.chr15:23890478A>G	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.603T>C	15.37:g.23890478A>G							p.F201F	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	697	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Silent	SNP	ENST00000532292.1	37	c.603T>C		.	.	.	.	.	.	.	.	.	.	A	6.023	0.372583	0.11409	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.07	-2.02	0.07388	.	.	.	.	.	T	0.48187	0.1486	.	.	.	0.33320	D	0.56717	.	.	.	.	.	.	T	0.56414	-0.7983	4	.	.	.	.	11.0661	0.47976	0.3524:0.0:0.6476:0.0	.	.	.	.	S	233	.	.	L	-	2	0	MAGEL2	21441571	0.001000	0.12720	0.049000	0.19019	0.509000	0.34042	-0.540000	0.06106	-0.415000	0.07484	0.528000	0.53228	TTA		0.577	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		7	130	0	0	0	0.278610	0	7	130				
APBA2	321	broad.mit.edu	37	15	29390775	29390775	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:29390775C>T	ENST00000558402.1	+	10	1933	c.1334C>T	c.(1333-1335)aCg>aTg	p.T445M	APBA2_ENST00000558259.1_Missense_Mutation_p.T445M|APBA2_ENST00000411764.1_Missense_Mutation_p.T433M|APBA2_ENST00000558330.1_Missense_Mutation_p.T433M|APBA2_ENST00000561069.1_Missense_Mutation_p.T445M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	445	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AATGCAGACACGCAGGTAAGC	0.478																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1333-1335)aCg>aTg		amyloid beta (A4) precursor protein-binding, family A, member 2							92.0	86.0	88.0					15																	29390775		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29390775C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1334C>T	15.37:g.29390775C>T	ENSP00000453293:p.Thr445Met					APBA2_ENST00000558259.1_Missense_Mutation_p.T445M|APBA2_ENST00000411764.1_Missense_Mutation_p.T433M|APBA2_ENST00000561069.1_Missense_Mutation_p.T445M|APBA2_ENST00000558330.1_Missense_Mutation_p.T433M	p.T445M			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	10	1933	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	445			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1334C>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449708	0.84101	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.23950	1.88	4.93	4.93	0.64822	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.74674	0.984;0.977;0.97;0.977	T	0.50180	-0.8858	10	0.62326	D	0.03	.	17.5045	0.87741	0.0:1.0:0.0:0.0	.	433;137;433;445	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	M	433;445;137	ENSP00000409312:T433M	ENSP00000219865:T445M	T	+	2	0	APBA2	27178067	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.584000	0.82572	2.406000	0.81754	0.655000	0.94253	ACG		0.478	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		29	42	0	0	0	0.706142	0	29	42				
SCN2A	6326	broad.mit.edu	37	2	166223805	166223805	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:166223805C>A	ENST00000375437.2	+	19	3889	c.3599C>A	c.(3598-3600)aCa>aAa	p.T1200K	SCN2A_ENST00000283256.6_Missense_Mutation_p.T1200K|SCN2A_ENST00000375427.2_Missense_Mutation_p.T1200K|SCN2A_ENST00000357398.3_Missense_Mutation_p.T1200K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1200					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGAGGAAAACATGCTATAAG	0.418																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3598-3600)aCa>aAa		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						185.0	171.0	176.0					2																	166223805		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166223805C>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3599C>A	2.37:g.166223805C>A	ENSP00000364586:p.Thr1200Lys					SCN2A_ENST00000375427.2_Missense_Mutation_p.T1200K|SCN2A_ENST00000283256.6_Missense_Mutation_p.T1200K|SCN2A_ENST00000375437.2_Missense_Mutation_p.T1200K	p.T1200K			Q99250	SCN2A_HUMAN			19	3889	+			1200					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3599C>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155616	0.94686	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	6.07	6.07	0.98685	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000001	D	0.94009	0.8081	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.92027	0.5630	10	0.31617	T	0.26	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1200;1200	Q99250-2;Q99250	.;SCN2A_HUMAN	K	1200	ENSP00000364586:T1200K;ENSP00000349973:T1200K;ENSP00000283256:T1200K;ENSP00000364576:T1200K	ENSP00000283256:T1200K	T	+	2	0	SCN2A	165932051	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	ACA		0.418	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		3	104	1	0	6.4e-05	0.115264	7.84516e-05	3	104				
SRP72	6731	broad.mit.edu	37	4	57340227	57340227	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr4:57340227G>A	ENST00000342756.5	+	4	1083	c.362G>A	c.(361-363)cGt>cAt	p.R121H	SRP72_ENST00000510663.1_Missense_Mutation_p.R121H|SRP72_ENST00000504757.1_Missense_Mutation_p.R121H	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	121					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CAGTTATACCGTTTGGAACGC	0.353																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(361-363)cGt>cAt		signal recognition particle 72kDa							56.0	56.0	56.0					4																	57340227		2203	4300	6503	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57340227G>A	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.362G>A	4.37:g.57340227G>A	ENSP00000342181:p.Arg121His					SRP72_ENST00000504757.1_Missense_Mutation_p.R121H|SRP72_ENST00000510663.1_Missense_Mutation_p.R121H	p.R121H	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			4	1083	+	Glioma(25;0.08)|all_neural(26;0.101)		121					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.362G>A	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098782	0.94197	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.77098	-1.07;-1.07	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.92730	0.6199	10	0.72032	D	0.01	.	16.5679	0.84603	0.0:0.0:1.0:0.0	.	121;121	G5E9Z8;O76094	.;SRP72_HUMAN	H	121;127;121	ENSP00000342181:R121H;ENSP00000424576:R121H	ENSP00000342181:R121H	R	+	2	0	SRP72	57034984	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	8.021000	0.88750	2.500000	0.84329	0.650000	0.86243	CGT		0.353	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			23	27	0	0	0	0.717897	0	23	27				
CTSV	1515	broad.mit.edu	37	9	99795313	99795313	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr9:99795313C>A	ENST00000259470.5	-	8	1172	c.923G>T	c.(922-924)gGc>gTc	p.G308V	CTSV_ENST00000538255.1_Missense_Mutation_p.G308V	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	308					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										GCCATTCGAGCCCCATTCTGG	0.438																																						ENST00000259470.5																			0											c.(922-924)gGc>gTc		cathepsin V							110.0	96.0	101.0					9																	99795313		2203	4300	6503	SO:0001583	missense	1515							g.chr9:99795313C>A	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.923G>T	9.37:g.99795313C>A	ENSP00000259470:p.Gly308Val					CTSV_ENST00000538255.1_Missense_Mutation_p.G308V	p.G308V	NM_001333.3	NP_001324.2					8	1172	-								O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	37	c.923G>T	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941593	0.73557	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	T;T	0.78126	-1.15;-1.15	3.81	3.81	0.43845	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	H	0.99988	5.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96127	0.9089	9	.	.	.	.	14.002	0.64439	0.0:1.0:0.0:0.0	.	308	O60911	CATL2_HUMAN	V	308	ENSP00000259470:G308V;ENSP00000445052:G308V	.	G	-	2	0	CTSL2	98835134	1.000000	0.71417	0.960000	0.40013	0.019000	0.09904	7.121000	0.77160	2.449000	0.82847	0.563000	0.77884	GGC		0.438	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		42	60	1	0	1.8453e-21	0.853193	2.54986e-21	42	60				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	87	0	0	0	0.115264	0	3	87				
ZSWIM2	151112	broad.mit.edu	37	2	187702143	187702143	+	Silent	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:187702143G>A	ENST00000295131.2	-	5	672	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	211					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGAGTTTTTGAATTCCTCCA	0.393																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(631-633)ttC>ttT		zinc finger, SWIM-type containing 2							116.0	113.0	114.0					2																	187702143		2203	4300	6503	SO:0001819	synonymous_variant	151112				apoptosis		zinc ion binding	g.chr2:187702143G>A	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.633C>T	2.37:g.187702143G>A							p.F211F	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		5	672	-			211					B3KXV6|Q53SI3|Q57ZY3	Silent	SNP	ENST00000295131.2	37	c.633C>T	CCDS33348.1																																																																																				0.393	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		6	147	0	0	0	0.248553	0	6	147				
MCHR2	84539	broad.mit.edu	37	6	100382335	100382335	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:100382335A>G	ENST00000281806.2	-	5	960	c.646T>C	c.(646-648)Tgc>Cgc	p.C216R	MCHR2_ENST00000369212.2_Missense_Mutation_p.C216R	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAAATATAGCACACCAAAATC	0.323																																						ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(646-648)Tgc>Cgc		melanin-concentrating hormone receptor 2							102.0	104.0	103.0					6																	100382335		2203	4298	6501	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100382335A>G	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.646T>C	6.37:g.100382335A>G	ENSP00000281806:p.Cys216Arg					MCHR2_ENST00000445970.1_Missense_Mutation_p.C216R|MCHR2_ENST00000369212.1_Missense_Mutation_p.C216R	p.C216R	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	5	960	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	216					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.646T>C	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379931	0.61845	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.42513	0.97;0.97;0.97	5.11	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.61248	0.2332	M	0.92317	3.295	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.69312	-0.5178	10	0.87932	D	0	.	9.6044	0.39624	0.9161:0.0:0.0839:0.0	.	216	Q969V1	MCHR2_HUMAN	R	216	ENSP00000403490:C216R;ENSP00000281806:C216R;ENSP00000358214:C216R	ENSP00000281806:C216R	C	-	1	0	MCHR2	100489056	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.520000	0.53465	0.790000	0.33803	0.533000	0.62120	TGC		0.323	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		90	132	0	0	0	0.870114	0	90	132				
RGS13	6003	broad.mit.edu	37	1	192627429	192627429	+	Missense_Mutation	SNP	C	C	T	rs529030881	byFrequency	TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:192627429C>T	ENST00000391995.2	+	6	514	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	RGS13_ENST00000543215.1_Missense_Mutation_p.R76W|RGS13_ENST00000482095.1_3'UTR	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	76	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AATTGCCTCACGGTGGAGCAG	0.413													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16425	0.001		0.0	False		,,,				2504	0.0					ENST00000391995.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						c.(226-228)Cgg>Tgg		regulator of G-protein signaling 13							78.0	78.0	78.0					1																	192627429		2203	4300	6503	SO:0001583	missense	6003					plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192627429C>T	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"""Regulators of G-protein signaling"""	9995	protein-coding gene	gene with protein product		607190	"""regulator of G-protein signalling 13"""			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.226C>T	1.37:g.192627429C>T	ENSP00000375853:p.Arg76Trp					RGS13_ENST00000543215.1_Missense_Mutation_p.R76W|RGS13_ENST00000482095.1_3'UTR	p.R76W	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN			6	514	+			76			RGS.		Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	c.226C>T	CCDS1376.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714885	0.68844	.	.	ENSG00000127074	ENST00000391995;ENST00000543215	T;T	0.32023	1.47;1.47	5.78	5.78	0.91487	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.308918	0.34531	N	0.003900	T	0.50786	0.1636	M	0.74647	2.275	0.21416	N	0.999692	D	0.62365	0.991	P	0.60236	0.871	T	0.51140	-0.8743	10	0.66056	D	0.02	.	12.4472	0.55657	0.1674:0.8326:0.0:0.0	.	76	O14921	RGS13_HUMAN	W	76	ENSP00000375853:R76W;ENSP00000442837:R76W	ENSP00000375853:R76W	R	+	1	2	RGS13	190894052	0.000000	0.05858	0.851000	0.33527	0.799000	0.45148	0.827000	0.27421	2.745000	0.94114	0.555000	0.69702	CGG		0.413	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		11	91	0	0	0	0.411799	0	11	91				
PER2	8864	broad.mit.edu	37	2	239185809	239185809	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:239185809C>T	ENST00000254657.3	-	3	535	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PER2_ENST00000254658.3_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000440245.1_Missense_Mutation_p.A86T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	86					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.A86T(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCAGATTTTGCCATCATCAGG	0.383																																						ENST00000254657.3																			1	Substitution - Missense(1)	p.A86T(1)	urinary_tract(1)	NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(256-258)Gca>Aca		period circadian clock 2							227.0	239.0	235.0					2																	239185809		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239185809C>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.256G>A	2.37:g.239185809C>T	ENSP00000254657:p.Ala86Thr					PER2_ENST00000254658.3_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000440245.1_Missense_Mutation_p.A86T	p.A86T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	3	535	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	86					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.256G>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	0.421	-0.908299	0.02434	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768;ENST00000431832	T;T;T;T;T	0.53423	2.72;0.68;1.71;0.68;0.62	4.96	2.12	0.27331	.	0.345872	0.34110	N	0.004259	T	0.34308	0.0893	L	0.34521	1.04	0.20074	N	0.999938	B;B;B;B	0.10296	0.003;0.0;0.001;0.0	B;B;B;B	0.12837	0.008;0.001;0.005;0.001	T	0.18053	-1.0349	10	0.31617	T	0.26	-1.2378	11.0032	0.47618	0.0:0.7639:0.0:0.2361	.	86;86;86;86	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	T	86	ENSP00000254657:A86T;ENSP00000254658:A86T;ENSP00000397516:A86T;ENSP00000348013:A86T;ENSP00000405891:A86T	ENSP00000254657:A86T	A	-	1	0	PER2	238850548	0.693000	0.27728	0.002000	0.10522	0.041000	0.13682	0.717000	0.25851	-0.004000	0.14419	-0.797000	0.03246	GCA		0.383	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		5	477	0	0	0	0.184627	0	5	477				
CPED1	79974	broad.mit.edu	37	7	120629721	120629721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:120629721C>T	ENST00000310396.5	+	2	513	c.46C>T	c.(46-48)Cga>Tga	p.R16*	CPED1_ENST00000450913.2_Nonsense_Mutation_p.R16*|CPED1_ENST00000340646.5_Nonsense_Mutation_p.R16*|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	16						endoplasmic reticulum (GO:0005783)											ATTTTGCCCCCGACCCTTCTT	0.597																																						ENST00000310396.5																			0											c.(46-48)Cga>Tga		cadherin-like and PC-esterase domain containing 1							129.0	114.0	119.0					7																	120629721		2203	4300	6503	SO:0001587	stop_gained	79974							g.chr7:120629721C>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.46C>T	7.37:g.120629721C>T	ENSP00000309772:p.Arg16*					CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Nonsense_Mutation_p.R16*|CPED1_ENST00000340646.5_Nonsense_Mutation_p.R16*	p.R16*	NM_024913.4	NP_079189.4					2	513	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Nonsense_Mutation	SNP	ENST00000310396.5	37	c.46C>T	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	38	6.734712	0.97801	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	.	.	.	5.64	5.64	0.86602	.	0.085944	0.49305	D	0.000155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8556	0.86005	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000309772:R16X	R	+	1	2	C7orf58	120416957	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.763000	0.62257	2.662000	0.90505	0.655000	0.94253	CGA		0.597	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		71	94	0	0	0	0.870114	0	71	94				
NOS1	4842	broad.mit.edu	37	12	117768410	117768410	+	Silent	SNP	G	G	A	rs369224010		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:117768410G>A	ENST00000338101.4	-	1	469	c.465C>T	c.(463-465)ccC>ccT	p.P155P	NOS1_ENST00000317775.6_Silent_p.P155P|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000344089.3_Silent_p.P155P			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0	Ala-rich.				cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCCCATTCCCGGGACCCGAGG	0.701																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(463-465)ccC>ccT		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)	G	,	1,3821		0,1,1910	39.0	44.0	42.0		465,465	-9.5	0.0	12		42	1,8233		0,1,4116	no	coding-synonymous,coding-synonymous	NOS1	NM_000620.4,NM_001204218.1	,	0,2,6026	AA,AG,GG		0.0121,0.0262,0.0166	,	155/1435,155/1469	117768410	2,12054	1911	4117	6028	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768410G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.465C>T	12.37:g.117768410G>A						NOS1_ENST00000338101.4_Silent_p.P155P|NOS1_ENST00000344089.3_Silent_p.P155P	p.P155P	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	1150	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		155			Interaction with NOSIP (By similarity).			Silent	SNP	ENST00000338101.4	37	c.465C>T	CCDS55890.1																																																																																				0.701	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			43	64	0	0	0	0.870114	0	43	64				
ARPP21	10777	broad.mit.edu	37	3	35758847	35758847	+	Silent	SNP	T	T	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:35758847T>C	ENST00000187397.4	+	13	1449	c.993T>C	c.(991-993)ttT>ttC	p.F331F	ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000458225.1_Silent_p.F297F|ARPP21_ENST00000417925.1_Silent_p.F297F|ARPP21_ENST00000337271.5_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	331					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GACAGCTCTTTCGGTTGGTAT	0.308																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(991-993)ttT>ttC		cAMP-regulated phosphoprotein, 21kDa							158.0	163.0	161.0					3																	35758847		2202	4299	6501	SO:0001819	synonymous_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35758847T>C	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.993T>C	3.37:g.35758847T>C						ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000417925.1_Silent_p.F297F|ARPP21_ENST00000458225.1_Silent_p.F297F	p.F331F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			13	1449	+			331					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	c.993T>C	CCDS2661.1																																																																																				0.308	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		3	162	0	0	0	0.184627	0	3	162				
ANLN	54443	broad.mit.edu	37	7	36445820	36445820	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:36445820C>A	ENST00000265748.2	+	4	739	c.518C>A	c.(517-519)cCa>cAa	p.P173Q	ANLN_ENST00000396068.2_Missense_Mutation_p.P173Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	173	Nuclear localization.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTCTTCTCACCAATGCCATCA	0.453																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(517-519)cCa>cAa		anillin, actin binding protein							76.0	77.0	77.0					7																	36445820		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36445820C>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.518C>A	7.37:g.36445820C>A	ENSP00000265748:p.Pro173Gln					ANLN_ENST00000396068.2_Missense_Mutation_p.P173Q	p.P173Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			4	739	+			173			Nuclear localization.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.518C>A	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744786	0.69418	.	.	ENSG00000011426	ENST00000265748;ENST00000396068;ENST00000424865	T;T;T	0.34667	2.57;2.53;1.35	5.34	4.46	0.54185	.	0.638972	0.17248	N	0.181279	T	0.43144	0.1234	L	0.55481	1.735	0.09310	N	0.999998	P;P;P;P	0.47962	0.903;0.814;0.883;0.814	P;P;P;P	0.53360	0.665;0.534;0.724;0.534	T	0.19679	-1.0298	10	0.24483	T	0.36	-0.4957	9.3509	0.38138	0.1429:0.7842:0.0:0.0728	.	50;173;173;173	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	Q	173;173;151	ENSP00000265748:P173Q;ENSP00000379380:P173Q;ENSP00000404979:P151Q	ENSP00000265748:P173Q	P	+	2	0	ANLN	36412345	0.045000	0.20229	0.004000	0.12327	0.247000	0.25773	3.375000	0.52410	1.382000	0.46385	0.557000	0.71058	CCA		0.453	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		4	162	1	0	0.150653	0.150653	0.17089	4	162				
TBK1	29110	broad.mit.edu	37	12	64891776	64891776	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:64891776G>A	ENST00000331710.5	+	20	2434	c.2095G>A	c.(2095-2097)Ggg>Agg	p.G699R		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	699					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AGAGATGGAAGGGGTGGTTAA	0.299																																						ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.(2095-2097)Ggg>Agg		TANK-binding kinase 1							71.0	78.0	76.0					12																	64891776		2203	4296	6499	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64891776G>A	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.2095G>A	12.37:g.64891776G>A	ENSP00000329967:p.Gly699Arg						p.G699R	NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	20	2434	+			699					A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.2095G>A	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.337811	0.41398	.	.	ENSG00000183735	ENST00000331710	T	0.66460	-0.21	5.7	5.7	0.88788	.	0.051296	0.85682	D	0.000000	T	0.68540	0.3012	L	0.29908	0.895	0.58432	D	0.999999	D	0.54047	0.964	P	0.53450	0.726	T	0.64153	-0.6474	9	.	.	.	-10.2349	20.2274	0.98342	0.0:0.0:1.0:0.0	.	699	Q9UHD2	TBK1_HUMAN	R	699	ENSP00000329967:G699R	.	G	+	1	0	TBK1	63178043	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.822000	0.86651	2.868000	0.98415	0.555000	0.69702	GGG		0.299	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		59	51	0	0	0	0.870114	0	59	51				
PRSS54	221191	broad.mit.edu	37	16	58324919	58324919	+	Silent	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr16:58324919G>A	ENST00000219301.4	-	4	601	c.207C>T	c.(205-207)ttC>ttT	p.F69F	PRSS54_ENST00000567164.1_Silent_p.F69F|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	69	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGATGCAGCCGAAAGCCAGGT	0.627																																						ENST00000219301.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(205-207)ttC>ttT		protease, serine, 54							108.0	86.0	94.0					16																	58324919		2198	4300	6498	SO:0001819	synonymous_variant	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58324919G>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.207C>T	16.37:g.58324919G>A						PRSS54_ENST00000567164.1_Silent_p.F69F|PRSS54_ENST00000543437.1_Intron	p.F69F	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN			4	601	-			69			Peptidase S1.		Q96LN9|Q9NT77	Silent	SNP	ENST00000219301.4	37	c.207C>T	CCDS32463.1																																																																																				0.627	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		5	133	0	0	0	0.184627	0	5	133				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		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						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	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															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	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.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		3	52	0	0	0	0.115264	0	3	52				
RAD50	10111	broad.mit.edu	37	5	131940537	131940537	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr5:131940537A>G	ENST00000265335.6	+	16	2951	c.2564A>G	c.(2563-2565)gAc>gGc	p.D855G	RAD50_ENST00000378823.3_Missense_Mutation_p.D716G			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	855					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTATACAGGACCAGCAGGAA	0.333								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2146-2148)gAc>gGc	Homologous recombination	RAD50 homolog (S. cerevisiae)							71.0	67.0	68.0					5																	131940537		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131940537A>G	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2564A>G	5.37:g.131940537A>G	ENSP00000265335:p.Asp855Gly					RAD50_ENST00000265335.6_Missense_Mutation_p.D855G	p.D716G	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2965	+		all_cancers(142;0.0368)|Breast(839;0.198)	855			Zinc-hook.		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.2147A>G	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994484	0.54041	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.25579	1.79;1.79	4.87	4.87	0.63330	.	0.098604	0.64402	D	0.000002	T	0.26159	0.0638	M	0.64997	1.995	0.58432	D	0.999999	P	0.45348	0.856	B	0.38562	0.276	T	0.07065	-1.0792	10	0.22109	T	0.4	-15.2061	14.7685	0.69657	1.0:0.0:0.0:0.0	.	855	Q92878	RAD50_HUMAN	G	716;855	ENSP00000368100:D716G;ENSP00000265335:D855G	ENSP00000265335:D855G	D	+	2	0	RAD50	131968436	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.875000	0.69660	1.947000	0.56498	0.533000	0.62120	GAC		0.333	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		18	45	0	0	0	0.557998	0	18	45				
FBN1	2200	broad.mit.edu	37	15	48795985	48795985	+	Splice_Site	SNP	T	T	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:48795985T>C	ENST00000316623.5	-	17	2567	c.2112A>G	c.(2110-2112)tcA>tcG	p.S704S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	704	TB 3.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACCACATACCTGAATTCTGTG	0.483																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.e17+1		fibrillin 1							134.0	115.0	122.0					15																	48795985		2197	4296	6493	SO:0001630	splice_region_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48795985T>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2113+1A>G	15.37:g.48795985T>C							p.S704_splice	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	17	2567	-		all_lung(180;0.00279)	704			TB 3.		B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	SNP	ENST00000316623.5	37	c.2113_splice	CCDS32232.1																																																																																				0.483	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		Silent	40	71	0	0	0	0.853193	0	40	71				
ZFHX3	463	broad.mit.edu	37	16	72821213	72821213	+	Silent	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr16:72821213C>A	ENST00000268489.5	-	10	11634	c.10962G>T	c.(10960-10962)tcG>tcT	p.S3654S	ZFHX3_ENST00000397992.5_Silent_p.S2740S|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3654					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGTTGGCATCGAGGGCTGAA	0.602																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10960-10962)tcG>tcT		zinc finger homeobox 3							88.0	87.0	87.0					16																	72821213		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821213C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10962G>T	16.37:g.72821213C>A						ZFHX3_ENST00000397992.5_Silent_p.S2740S	p.S3654S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11634	-		Ovarian(137;0.13)	3654					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10962G>T	CCDS10908.1																																																																																				0.602	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		5	234	1	0	0.014758	0.184627	0.0175251	5	234				
PARP2	10038	broad.mit.edu	37	14	20818733	20818733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr14:20818733G>T	ENST00000250416.5	+	5	439	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	PARP2_ENST00000429687.3_Nonsense_Mutation_p.E125*|PARP2_ENST00000527915.1_Nonsense_Mutation_p.E138*	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	138					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TCAGCTATTAGAAGATGATGC	0.368								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000527915.1																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(412-414)Gaa>Taa	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							140.0	129.0	133.0					14																	20818733		1885	4119	6004	SO:0001587	stop_gained	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20818733G>T	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.412G>T	14.37:g.20818733G>T	ENSP00000250416:p.Glu138*					PARP2_ENST00000250416.5_Nonsense_Mutation_p.E138*|PARP2_ENST00000429687.3_Nonsense_Mutation_p.E125*	p.E138*			Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	5	417	+	all_cancers(95;0.00092)	all_lung(585;0.235)	138					Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Nonsense_Mutation	SNP	ENST00000250416.5	37	c.412G>T	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	G	36	5.876800	0.97055	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	.	.	.	5.04	5.04	0.67666	.	0.059064	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-22.2706	17.3195	0.87232	0.0:0.0:1.0:0.0	.	.	.	.	X	125;138;138	.	ENSP00000250416:E138X	E	+	1	0	PARP2	19888573	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.138000	0.50570	2.628000	0.89032	0.655000	0.94253	GAA		0.368	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			4	154	1	0	0.00909568	0.150653	0.0109726	4	154				
ILVBL	10994	broad.mit.edu	37	19	15228815	15228815	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:15228815C>G	ENST00000263383.3	-	10	1202	c.1063G>C	c.(1063-1065)Gac>Cac	p.D355H	ILVBL_ENST00000534378.1_Missense_Mutation_p.D248H|ILVBL_ENST00000531635.1_5'Flank	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	355						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AGGCGGAAGTCACACACAGTT	0.522																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(1063-1065)Gac>Cac		ilvB (bacterial acetolactate synthase)-like							109.0	85.0	93.0					19																	15228815		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15228815C>G	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1063G>C	19.37:g.15228815C>G	ENSP00000263383:p.Asp355His					ILVBL_ENST00000534378.1_Missense_Mutation_p.D248H	p.D355H	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			10	1202	-			355					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.1063G>C	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162790	0.57368	.	.	ENSG00000105135	ENST00000263383	T	0.47869	0.83	5.42	5.42	0.78866	Thiamine pyrophosphate enzyme, central domain (1);	0.000000	0.85682	D	0.000000	T	0.75664	0.3880	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81595	-0.0861	10	0.87932	D	0	-28.6591	16.7089	0.85380	0.0:1.0:0.0:0.0	.	355	A1L0T0	ILVBL_HUMAN	H	355	ENSP00000263383:D355H	ENSP00000263383:D355H	D	-	1	0	ILVBL	15089815	1.000000	0.71417	0.998000	0.56505	0.013000	0.08279	7.426000	0.80270	2.542000	0.85734	0.563000	0.77884	GAC		0.522	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		6	115	0	0	0	0.217242	0	6	115				
PHC2	1912	broad.mit.edu	37	1	33797964	33797966	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:33797964_33797966delCTT	ENST00000257118.5	-	10	1851_1853	c.1798_1800delAAG	c.(1798-1800)aagdel	p.K600del	PHC2_ENST00000373422.3_In_Frame_Del_p.K206del|PHC2_ENST00000431992.1_In_Frame_Del_p.K571del|PHC2_ENST00000373418.3_In_Frame_Del_p.K65del|PHC2_ENST00000373416.1_In_Frame_Del_p.K65del|PHC2_ENST00000419414.2_In_Frame_Del_p.K601del|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000485928.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	600					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTGTGCATACTTCTTCTTGAGA	0.581																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1798-1800)del		polyhomeotic homolog 2 (Drosophila)																																				SO:0001651	inframe_deletion	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33797964_33797966delCTT	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1798_1800delAAG	1.37:g.33797970_33797972delCTT	ENSP00000257118:p.Lys600del					PHC2_ENST00000419414.2_In_Frame_Del_p.K601del|PHC2_ENST00000373416.1_In_Frame_Del_p.K65del|PHC2_ENST00000373422.3_In_Frame_Del_p.K206del|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_In_Frame_Del_p.K65del|PHC2_ENST00000431992.1_In_Frame_Del_p.K571del	p.K600del	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			10	1851_1853	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	600					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	In_Frame_Del	DEL	ENST00000257118.5	37	c.1798_1800delAAG	CCDS378.1																																																																																				0.581	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		129	259						129	259	---	---	---	---
USP21	27005	broad.mit.edu	37	1	161132502	161132504	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:161132502_161132504delCTT	ENST00000289865.8	+	5	1100_1102	c.879_881delCTT	c.(877-882)tccttc>tcc	p.F294del	USP21_ENST00000368002.3_In_Frame_Del_p.F294del|USP21_ENST00000368001.1_In_Frame_Del_p.F294del	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	294	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGTTCCCTCCTTCTCTGGATAC	0.557																																						ENST00000368002.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29						c.(877-882)tcc>tc		ubiquitin specific peptidase 21																																				SO:0001651	inframe_deletion	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161132502_161132504delCTT	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.879_881delCTT	1.37:g.161132502_161132504delCTT	ENSP00000289865:p.Phe294del					USP21_ENST00000289865.8_In_Frame_Del_p.SF293del|USP21_ENST00000368001.1_In_Frame_Del_p.SF293del|USP21_ENST00000487163.1_3'UTR	p.SF293del	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		6	1256_1258	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		293					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	In_Frame_Del	DEL	ENST00000289865.8	37	c.879_881delCTT	CCDS30920.1																																																																																				0.557	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			10	84						10	84	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23768774	23768792	+	Frame_Shift_Del	DEL	TTCCTTTGGAGCTGCAGTT	TTCCTTTGGAGCTGCAGTT	-	rs554301624		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:23768774_23768792delTTCCTTTGGAGCTGCAGTT	ENST00000355870.3	+	6	508_526	c.389_407delTTCCTTTGGAGCTGCAGTT	c.(388-408)attcctttggagctgcagtttfs	p.IPLELQF130fs	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Frame_Shift_Del_p.IPLELQF107fs|STK31_ENST00000354639.3_Frame_Shift_Del_p.IPLELQF107fs|STK31_ENST00000433467.2_Frame_Shift_Del_p.IPLELQF130fs	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	130	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATAGTTGAAATTCCTTTGGAGCTGCAGTTTTCTAGTGTT	0.356																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(319-339)atfs		serine/threonine kinase 31																																				SO:0001589	frameshift_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23768774_23768792delTTCCTTTGGAGCTGCAGTT	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.389_407delTTCCTTTGGAGCTGCAGTT	7.37:g.23768774_23768792delTTCCTTTGGAGCTGCAGTT	ENSP00000348132:p.Ile130fs					STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Frame_Shift_Del_p.IPLELQF130fs|STK31_ENST00000428484.1_Frame_Shift_Del_p.IPLELQF107fs|STK31_ENST00000433467.2_Frame_Shift_Del_p.IPLELQF130fs	p.IPLELQF107fs	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			6	784_802	+			130			Tudor.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Frame_Shift_Del	DEL	ENST00000355870.3	37	c.320_338delTTCCTTTGGAGCTGCAGTT	CCDS5386.1																																																																																				0.356	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		19	125						19	125	---	---	---	---
ZNF277	11179	broad.mit.edu	37	7	111936282	111936284	+	Splice_Site	DEL	AGA	AGA	-	rs181316730		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:111936282_111936284delAGA	ENST00000361822.3	+	4	511_512	c.382_383delAGA	c.(382-384)aga>a	p.R128del	ZNF277_ENST00000450657.1_Splice_Site_p.R128del	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	128					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						ATCTCTCAACAGAAGAACAAGAG	0.3																																						ENST00000361822.3																			0				breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.e4-1		zinc finger protein 277																																				SO:0001630	splice_region_variant	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111936282_111936284delAGA	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.383-1AGA>-	7.37:g.111936285_111936287delAGA						ZNF277_ENST00000450657.1_Splice_Site_p.128_splice	p.128_splice	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN			4	511_512	+			128					Q75MZ2|Q75MZ3|Q8WY14	Splice_Site	DEL	ENST00000361822.3	37	c.382_splice	CCDS5755.2																																																																																				0.300	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994	In_Frame_Del	13	241						13	241	---	---	---	---
RP11-149P24.1	0	broad.mit.edu	37	8	137130780	137130781	+	lincRNA	INS	-	-	TTCC	rs572972388|rs371341856|rs59426717		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr8:137130780_137130781insTTCC	ENST00000523150.1	+	0	330																											ccctcccttctttccttccttc	0.495																																						ENST00000523150.1																			0																																																			0							g.chr8:137130780_137130781insTTCC																													8.37:g.137130785_137130788dupTTCC														0	330	+									RNA	INS	ENST00000523150.1	37																																																																																						0.495	RP11-149P24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000377377.1			4	2						4	2	---	---	---	---
LRRC14	9684	broad.mit.edu	37	8	145740580	145740580	+	5'Flank	DEL	T	T	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr8:145740580delT	ENST00000292524.1	+	0	0				CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Frame_Shift_Del_p.Q479fs|LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000532237.1_5'UTR	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCGAAAGGCTTGGTGCCCCA	0.637																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1435-1437)cafs	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							20.0	27.0	25.0					8																	145740580		2134	4240	6374	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145740580delT	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145740580delT	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.Q479fs	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		8	1478	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		479					A8K0A8|D3DWM8	Frame_Shift_Del	DEL	ENST00000292524.1	37	c.1437delA	CCDS6432.1																																																																																				0.637	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		5	2						5	2	---	---	---	---
API5	8539	broad.mit.edu	37	11	43348086	43348087	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:43348086_43348087delAT	ENST00000531273.1	+	7	919_920	c.780_781delAT	c.(778-783)acatatfs	p.Y261fs	API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Frame_Shift_Del_p.Y250fs|API5_ENST00000420461.2_Frame_Shift_Del_p.Y207fs|API5_ENST00000378852.3_Frame_Shift_Del_p.Y261fs|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000534600.1_Frame_Shift_Del_p.Y261fs			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	261	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GGTTTGTGACATATTTCTGTGA	0.376																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(778-783)acatfs		apoptosis inhibitor 5																																				SO:0001589	frameshift_variant	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43348086_43348087delAT	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.780_781delAT	11.37:g.43348088_43348089delAT	ENSP00000431391:p.Tyr261fs					API5_ENST00000534600.1_Frame_Shift_Del_p.TY260fs|API5_ENST00000455725.2_Frame_Shift_Del_p.TY249fs|API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Frame_Shift_Del_p.TY260fs|API5_ENST00000420461.2_Frame_Shift_Del_p.TY206fs	p.TY260fs	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			7	905_906	+			260					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Frame_Shift_Del	DEL	ENST00000531273.1	37	c.780_781delAT	CCDS44572.1																																																																																				0.376	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		70	166						70	166	---	---	---	---
TCIRG1	10312	broad.mit.edu	37	11	67815190	67815192	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:67815190_67815192delACA	ENST00000265686.3	+	12	1490_1492	c.1382_1384delACA	c.(1381-1386)tacaac>tac	p.N462del	TCIRG1_ENST00000532635.1_In_Frame_Del_p.N246del	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	462			Missing (in OPTB1). {ECO:0000269|PubMed:15300850}.		ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGCTTCATCTACAACGAGTGCTT	0.64																																						ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16	GRCh37	CD012859	TCIRG1	D		c.(1381-1386)tac>t		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3																																				SO:0001651	inframe_deletion	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67815190_67815192delACA	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1382_1384delACA	11.37:g.67815190_67815192delACA	ENSP00000265686:p.Asn462del					TCIRG1_ENST00000532635.1_In_Frame_Del_p.YN245del	p.YN461del	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN			12	1490_1492	+			461					O75877|Q8WVC5	In_Frame_Del	DEL	ENST00000265686.3	37	c.1382_1384delACA	CCDS8177.1																																																																																				0.640	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		26	285						26	285	---	---	---	---
GRAMD1B	57476	broad.mit.edu	37	11	123476150	123476153	+	Frame_Shift_Del	DEL	ACTA	ACTA	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:123476150_123476153delACTA	ENST00000529750.1	+	9	1185_1188	c.858_861delACTA	c.(856-861)acactafs	p.TL286fs	GRAMD1B_ENST00000456860.2_Frame_Shift_Del_p.TL293fs|GRAMD1B_ENST00000322282.7_Frame_Shift_Del_p.TL286fs|GRAMD1B_ENST00000450171.2_5'Flank	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	286						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCAACAGCACACTAACATCCACAG	0.534																																						ENST00000529750.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(856-861)acfs		GRAM domain containing 1B																																				SO:0001589	frameshift_variant	57476					integral to membrane		g.chr11:123476150_123476153delACTA	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.858_861delACTA	11.37:g.123476150_123476153delACTA	ENSP00000436500:p.Thr286fs					GRAMD1B_ENST00000322282.7_Frame_Shift_Del_p.TL286fs|GRAMD1B_ENST00000456860.2_Frame_Shift_Del_p.TL293fs	p.TL286fs	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	9	1185_1188	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	286					Q6UW85|Q9ULL9	Frame_Shift_Del	DEL	ENST00000529750.1	37	c.858_861delACTA	CCDS53720.1																																																																																				0.534	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		67	138						67	138	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76814305	76814305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chrX:76814305delA	ENST00000373344.5	-	29	6553	c.6339delT	c.(6337-6339)tttfs	p.F2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.F2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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.F2113fs*9(1)|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						TAGAAATGATAAATAATCGTC	0.289			"""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"""		2	Unknown(1)|Deletion - Frameshift(1)	p.F2113fs*9(1)|p.?(1)	bone(1)|pancreas(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.(6337-6339)ttfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						43.0	42.0	43.0					X																	76814305		2201	4290	6491	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:76814305delA	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.6339delT	X.37:g.76814305delA	ENSP00000362441:p.Phe2113fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.F2075fs|ATRX_ENST00000480283.1_5'UTR	p.F2113fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6553	-			2113			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6339delT	CCDS14434.1																																																																																				0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		54	12						54	12	---	---	---	---
