#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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	89	0	0	0	1	0	5	89				
MGAT4C	25834	broad.mit.edu	37	12	86373300	86373300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:86373300G>A	ENST00000604798.1	-	8	2408	c.1204C>T	c.(1204-1206)Caa>Taa	p.Q402*	MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.Q431*			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	402					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATATCATTTTGCCGATCTTCT	0.343																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1204-1206)Caa>Taa		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							72.0	71.0	71.0					12																	86373300		2203	4300	6503	SO:0001587	stop_gained	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373300G>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1204C>T	12.37:g.86373300G>A	ENSP00000474896:p.Gln402*					MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.Q431*	p.Q402*			Q9UBM8	MGT4C_HUMAN			8	2408	-			402					B4DRH2|Q4G199|Q9UIU5	Nonsense_Mutation	SNP	ENST00000604798.1	37	c.1204C>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028622	0.35797	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-3.1508	19.9607	0.97248	0.0:0.0:1.0:0.0	.	.	.	.	X	402;431;402;402;402;402	.	ENSP00000331664:Q402X	Q	-	1	0	MGAT4C	84897431	1.000000	0.71417	0.980000	0.43619	0.121000	0.20230	7.858000	0.86971	2.713000	0.92767	0.585000	0.79938	CAA		0.343	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		16	34	0	0	0	1	0	16	34				
CACNA1H	8912	broad.mit.edu	37	16	1262079	1262079	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr16:1262079C>T	ENST00000348261.5	+	25	4948	c.4700C>T	c.(4699-4701)gCg>gTg	p.A1567V	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1567V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1567V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1567					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CACCAGGAGGCGGAGGAGGCG	0.657																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4699-4701)gCg>gTg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						118.0	123.0	121.0					16																	1262079		2143	4239	6382	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1262079C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4700C>T	16.37:g.1262079C>T	ENSP00000334198:p.Ala1567Val					CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1567V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1567V	p.A1567V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			25	4948	+		Hepatocellular(780;0.00369)	1567					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4700C>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.345911	0.61073	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96651	-4.08;-4.02	4.13	4.13	0.48395	.	0.206590	0.40469	N	0.001083	D	0.92996	0.7771	N	0.14661	0.345	0.37608	D	0.920811	D;P;B;P;B	0.67145	0.996;0.792;0.449;0.744;0.274	P;B;B;B;B	0.50082	0.63;0.126;0.029;0.119;0.177	D	0.92697	0.6171	10	0.23302	T	0.38	.	15.9029	0.79397	0.0:1.0:0.0:0.0	.	308;308;308;1567;1567	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	V	1567	ENSP00000334198:A1567V;ENSP00000351401:A1567V	ENSP00000334198:A1567V	A	+	2	0	CACNA1H	1202080	1.000000	0.71417	0.941000	0.38009	0.961000	0.63080	5.702000	0.68332	2.285000	0.76669	0.467000	0.42956	GCG		0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		21	59	0	0	0	1	0	21	59				
DAB2IP	153090	broad.mit.edu	37	9	124530868	124530868	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr9:124530868A>G	ENST00000408936.3	+	10	2037	c.1855A>G	c.(1855-1857)Agc>Ggc	p.S619G	DAB2IP_ENST00000259371.2_Missense_Mutation_p.S591G|DAB2IP_ENST00000309989.1_Missense_Mutation_p.S495G			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	619					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CGAGCTCTCCAGCCTGCACTC	0.637																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1855-1857)Agc>Ggc		DAB2 interacting protein							55.0	57.0	56.0					9																	124530868		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124530868A>G	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1855A>G	9.37:g.124530868A>G	ENSP00000386183:p.Ser619Gly					DAB2IP_ENST00000259371.2_Missense_Mutation_p.S591G|DAB2IP_ENST00000309989.1_Missense_Mutation_p.S495G	p.S619G			Q5VWQ8	DAB2P_HUMAN			10	2037	+			619					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.1855A>G		.	.	.	.	.	.	.	.	.	.	A	17.50	3.405052	0.62288	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	4.82	4.82	0.62117	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.099820	0.64402	D	0.000002	T	0.17534	0.0421	L	0.36672	1.1	0.39356	D	0.965836	B;B	0.26002	0.139;0.125	B;B	0.31614	0.056;0.133	T	0.06445	-1.0826	10	0.72032	D	0.01	.	13.8827	0.63691	1.0:0.0:0.0:0.0	.	619;591	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	G	591;619;528;495	ENSP00000259371:S591G;ENSP00000386183:S619G;ENSP00000362887:S528G;ENSP00000310827:S495G	ENSP00000259371:S591G	S	+	1	0	DAB2IP	123570689	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.118000	0.64673	1.938000	0.56188	0.455000	0.32223	AGC		0.637	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		25	38	0	0	0	1	0	25	38				
SERPINB12	89777	broad.mit.edu	37	18	61228381	61228381	+	Missense_Mutation	SNP	A	A	C	rs372067940		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr18:61228381A>C	ENST00000269491.1	+	4	448	c.448A>C	c.(448-450)Aac>Cac	p.N150H	SERPINB12_ENST00000382768.1_Missense_Mutation_p.N170H	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	150					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTCCAAAAAAACCCTGAAAA	0.368																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(508-510)Aac>Cac		serpin peptidase inhibitor, clade B (ovalbumin), member 12							88.0	86.0	86.0					18																	61228381		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61228381A>C	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.448A>C	18.37:g.61228381A>C	ENSP00000269491:p.Asn150His					SERPINB12_ENST00000269491.1_Missense_Mutation_p.N150H	p.N170H			Q96P63	SPB12_HUMAN			4	508	+			150					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.508A>C	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	A	8.880	0.951497	0.18431	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84070	-1.8;-1.8	5.59	0.655	0.17839	Serpin domain (3);	0.688458	0.14267	N	0.330440	T	0.77110	0.4082	L	0.33093	0.98	0.09310	N	1	P;P	0.46142	0.873;0.794	P;P	0.49140	0.482;0.601	T	0.66689	-0.5860	10	0.62326	D	0.03	.	5.7264	0.18015	0.342:0.1272:0.5308:0.0	.	170;150	Q3SYB4;Q96P63	.;SPB12_HUMAN	H	150;170	ENSP00000269491:N150H;ENSP00000372218:N170H	ENSP00000269491:N150H	N	+	1	0	SERPINB12	59379361	0.000000	0.05858	0.058000	0.19502	0.001000	0.01503	0.580000	0.23803	0.108000	0.17862	-1.148000	0.01847	AAC		0.368	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		8	86	0	0	0	1	0	8	86				
ARPC1A	10552	broad.mit.edu	37	7	98935818	98935818	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:98935818C>A	ENST00000262942.5	+	3	203	c.79C>A	c.(79-81)Ccc>Acc	p.P27T	ARPC1A_ENST00000432884.2_5'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	27					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TGCCCTCAGTCCCAATAATCA	0.448																																						ENST00000262942.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19						c.(79-81)Ccc>Acc		actin related protein 2/3 complex, subunit 1A, 41kDa							70.0	57.0	62.0					7																	98935818		2203	4300	6503	SO:0001583	missense	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98935818C>A	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.79C>A	7.37:g.98935818C>A	ENSP00000262942:p.Pro27Thr					ARPC1A_ENST00000432884.2_5'UTR	p.P27T	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	203	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		27					A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	ENST00000262942.5	37	c.79C>A	CCDS5660.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504872	0.85176	.	.	ENSG00000241685	ENST00000262942	T	0.63417	-0.04	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81446	0.4824	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.987;0.994	T	0.80906	-0.1173	10	0.51188	T	0.08	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	22;27	Q53GB6;Q92747	.;ARC1A_HUMAN	T	27	ENSP00000262942:P27T	ENSP00000262942:P27T	P	+	1	0	ARPC1A	98773754	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.708000	0.84633	2.804000	0.96469	0.655000	0.94253	CCC		0.448	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409		3	22	1	0	0.00909568	1	0.00909568	3	22				
TMEM14E	645843	broad.mit.edu	37	3	152058331	152058331	+	Silent	SNP	T	T	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr3:152058331T>C	ENST00000408960.3	-	1	448	c.363A>G	c.(361-363)ggA>ggG	p.G121G	MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000485910.1_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	121						integral component of membrane (GO:0016021)				lung(1)	1						TCTTCATGAGTCCAAGCTGAG	0.348																																						ENST00000408960.3																			0				lung(1)	1						c.(361-363)ggA>ggG		transmembrane protein 14E							83.0	80.0	81.0					3																	152058331		1568	3582	5150	SO:0001819	synonymous_variant	645843					integral to membrane		g.chr3:152058331T>C		CCDS43161.1	3q25.1	2011-09-15			ENSG00000221962	ENSG00000221962			34386	protein-coding gene	gene with protein product							Standard	NM_001123228		Approved		uc010hvo.3	Q6UXP3	OTTHUMG00000159652	ENST00000408960.3:c.363A>G	3.37:g.152058331T>C						MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000282488.7_Intron	p.G121G	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN			1	448	-			121						Silent	SNP	ENST00000408960.3	37	c.363A>G	CCDS43161.1																																																																																				0.348	TMEM14E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356703.1	NM_001123228		6	90	0	0	0	1	0	6	90				
TRIM13	10206	broad.mit.edu	37	13	50586723	50586723	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr13:50586723A>C	ENST00000378182.3	+	2	1385	c.647A>C	c.(646-648)gAc>gCc	p.D216A	TRIM13_ENST00000356017.4_Missense_Mutation_p.D219A|TRIM13_ENST00000457662.2_Missense_Mutation_p.D216A|TRIM13_ENST00000298772.5_Missense_Mutation_p.D219A|KCNRG_ENST00000312942.1_5'Flank|KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000420995.2_Missense_Mutation_p.D216A|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	216					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAAGCATATGACCCAGAGATC	0.398																																						ENST00000378182.3																			0				large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(646-648)gAc>gCc		tripartite motif containing 13							73.0	66.0	68.0					13																	50586723		2203	4300	6503	SO:0001583	missense	10206				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50586723A>C	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.647A>C	13.37:g.50586723A>C	ENSP00000367424:p.Asp216Ala					TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000298772.5_Missense_Mutation_p.D219A|TRIM13_ENST00000420995.2_Missense_Mutation_p.D216A|TRIM13_ENST00000457662.2_Missense_Mutation_p.D216A|TRIM13_ENST00000356017.4_Missense_Mutation_p.D219A	p.D216A	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	2	1385	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	216					B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	c.647A>C	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298815	0.60195	.	.	ENSG00000204977	ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T;T	0.25749	2.33;1.78;1.78;2.32;1.78;2.32	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.11203	-1.0597	9	.	.	.	-6.5507	15.7868	0.78310	1.0:0.0:0.0:0.0	.	216;219	O60858;O60858-3	TRI13_HUMAN;.	A	216;216;216;219;216;219	ENSP00000367425:D216A;ENSP00000412943:D216A;ENSP00000367424:D216A;ENSP00000348299:D219A;ENSP00000399206:D216A;ENSP00000298772:D219A	.	D	+	2	0	TRIM13	49484724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.918000	0.92759	2.119000	0.64992	0.533000	0.62120	GAC		0.398	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		5	28	0	0	0	1	0	5	28				
TTC21B	79809	broad.mit.edu	37	2	166747103	166747103	+	Missense_Mutation	SNP	C	C	T	rs144103331		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr2:166747103C>T	ENST00000243344.7	-	24	3286	c.3149G>A	c.(3148-3150)cGg>cAg	p.R1050Q	TTC21B_ENST00000536175.1_5'UTR	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1050					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.R1050Q(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ACGATCTTTCCGAGCTTTATT	0.343																																						ENST00000243344.7																			1	Substitution - Missense(1)	p.R1050Q(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(3148-3150)cGg>cAg		tetratricopeptide repeat domain 21B		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	75.0	76.0		3149	5.7	1.0	2	dbSNP_134	76	0,8600		0,0,4300	no	missense	TTC21B	NM_024753.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1050/1317	166747103	1,13005	2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166747103C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3149G>A	2.37:g.166747103C>T	ENSP00000243344:p.Arg1050Gln					TTC21B_ENST00000536175.1_5'UTR	p.R1050Q	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			24	3286	-			1050					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.3149G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	35	5.550226	0.96501	2.27E-4	0.0	ENSG00000123607	ENST00000243344	T	0.63255	-0.03	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.84019	0.5380	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86464	0.1781	10	0.72032	D	0.01	-17.9488	19.8361	0.96658	0.0:1.0:0.0:0.0	.	1050	Q7Z4L5	TT21B_HUMAN	Q	1050	ENSP00000243344:R1050Q	ENSP00000243344:R1050Q	R	-	2	0	TTC21B	166455349	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.802000	0.85969	2.703000	0.92315	0.637000	0.83480	CGG		0.343	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		4	54	0	0	0	1	0	4	54				
IRF5	3663	broad.mit.edu	37	7	128587366	128587366	+	Silent	SNP	C	C	T	rs534043449|rs199508964|rs60344245	byFrequency	TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:128587366C>T	ENST00000402030.2	+	6	588	c.516C>T	c.(514-516)ccC>ccT	p.P172P	IRF5_ENST00000249375.4_Silent_p.P172P|IRF5_ENST00000473745.1_Silent_p.P172P|IRF5_ENST00000357234.5_Silent_p.P188P|IRF5_ENST00000477535.1_Intron	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	172					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGCAGCCGCCCACTCTGCGGC	0.657													C|||	3	0.000599042	0.0	0.0014	5008	,	,		12915	0.001		0.001	False		,,,				2504	0.0					ENST00000402030.2																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(514-516)ccC>ccT		interferon regulatory factor 5							8.0	9.0	9.0					7																	128587366		2090	4208	6298	SO:0001819	synonymous_variant	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128587366C>T		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.516C>T	7.37:g.128587366C>T						IRF5_ENST00000473745.1_Silent_p.P172P|IRF5_ENST00000357234.5_Silent_p.P188P|IRF5_ENST00000249375.4_Silent_p.P172P|IRF5_ENST00000477535.1_Intron	p.P172P	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN			6	588	+			172	EDVKWPPTLQPPTLR -> DAVQSGPHMTPYSLLKEDVKW (in Ref. 1; AAA96056).				A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Silent	SNP	ENST00000402030.2	37	c.516C>T	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	C	3.008	-0.204506	0.06180	.	.	ENSG00000128604	ENST00000430204	.	.	.	.	.	.	.	0.400804	0.18480	N	0.139975	T	0.13286	0.0322	.	.	.	0.19775	N	0.999958	.	.	.	.	.	.	T	0.29792	-1.0000	4	0.07644	T	0.81	.	.	.	.	.	161	E9PC81	.	L	161	.	ENSP00000409106:P161L	P	+	2	0	IRF5	128374602	0.023000	0.18921	0.251000	0.24312	0.062000	0.15995	0.105000	0.15333	0.119000	0.18210	0.121000	0.15741	CCA		0.657	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		4	15	0	0	0	1	0	4	15				
ADAMTS3	9508	broad.mit.edu	37	4	73169735	73169735	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr4:73169735G>A	ENST00000286657.4	-	17	2359	c.2323C>T	c.(2323-2325)Cgg>Tgg	p.R775W		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	775	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R775W(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGAAGGTCCGCGACTTGGCT	0.393																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			1	Substitution - Missense(1)	p.R775W(1)	urinary_tract(1)	NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2323-2325)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 3							206.0	205.0	205.0					4																	73169735		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73169735G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2323C>T	4.37:g.73169735G>A	ENSP00000286657:p.Arg775Trp						p.R775W	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		17	2359	-			775			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2323C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534517	0.64972	.	.	ENSG00000156140	ENST00000286657	T	0.54675	0.56	5.57	1.66	0.24008	ADAM-TS Spacer 1 (1);	0.157146	0.41823	D	0.000807	T	0.67069	0.2854	M	0.67700	2.07	0.30719	N	0.748409	D	0.61697	0.99	D	0.63597	0.916	T	0.71570	-0.4553	10	0.66056	D	0.02	.	15.0957	0.72232	0.0:0.0:0.4863:0.5137	.	775	O15072	ATS3_HUMAN	W	775	ENSP00000286657:R775W	ENSP00000286657:R775W	R	-	1	2	ADAMTS3	73388599	0.248000	0.23930	0.033000	0.17914	0.915000	0.54546	1.548000	0.36201	-0.011000	0.14247	-0.182000	0.12963	CGG		0.393	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			5	165	0	0	0	1	0	5	165				
GRIA1	2890	broad.mit.edu	37	5	153054155	153054155	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:153054155G>C	ENST00000285900.5	+	6	1138	c.795G>C	c.(793-795)aaG>aaC	p.K265N	GRIA1_ENST00000518783.1_Missense_Mutation_p.K275N|GRIA1_ENST00000521843.2_Missense_Mutation_p.K196N|GRIA1_ENST00000448073.4_Missense_Mutation_p.K275N|GRIA1_ENST00000518142.1_Missense_Mutation_p.K185N|GRIA1_ENST00000340592.5_Missense_Mutation_p.K265N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	265					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTCCGGCCAAGATCATGCAGC	0.527																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(793-795)aaG>aaC		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						168.0	155.0	159.0					5																	153054155		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153054155G>C		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.795G>C	5.37:g.153054155G>C	ENSP00000285900:p.Lys265Asn					GRIA1_ENST00000340592.5_Missense_Mutation_p.K265N|GRIA1_ENST00000521843.2_Missense_Mutation_p.K196N|GRIA1_ENST00000518142.1_Missense_Mutation_p.K185N|GRIA1_ENST00000448073.4_Missense_Mutation_p.K275N|GRIA1_ENST00000518783.1_Missense_Mutation_p.K275N	p.K265N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		6	1138	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	265					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.795G>C	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336091	0.41398	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.56	3.32	0.38043	Extracellular ligand-binding receptor (1);	0.211943	0.44483	D	0.000445	T	0.69940	0.3167	N	0.20685	0.6	0.28645	N	0.906954	B;B;B;B;B;B	0.31817	0.341;0.341;0.003;0.341;0.103;0.003	B;B;B;B;B;B	0.32864	0.154;0.154;0.015;0.154;0.043;0.009	T	0.64411	-0.6414	10	0.66056	D	0.02	.	8.0133	0.30365	0.2904:0.0:0.7096:0.0	.	275;275;185;275;265;265	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	N	265;265;185;219;265;196;196;275;275	ENSP00000285900:K265N;ENSP00000427920:K185N;ENSP00000339343:K265N;ENSP00000427864:K196N;ENSP00000442108:K196N;ENSP00000428994:K275N;ENSP00000415569:K275N	ENSP00000285900:K265N	K	+	3	2	GRIA1	153034348	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	1.316000	0.33620	0.443000	0.26582	0.655000	0.94253	AAG		0.527	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			4	112	0	0	0	1	0	4	112				
ITSN1	6453	broad.mit.edu	37	21	35153849	35153849	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr21:35153849C>T	ENST00000381318.3	+	15	1969	c.1681C>T	c.(1681-1683)Cac>Tac	p.H561Y	ITSN1_ENST00000399353.1_Missense_Mutation_p.H524Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.H561Y|ITSN1_ENST00000399367.3_Missense_Mutation_p.H561Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.H561Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399326.3_Missense_Mutation_p.H561Y|ITSN1_ENST00000379960.5_Missense_Mutation_p.H561Y|ITSN1_ENST00000381291.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399352.1_Missense_Mutation_p.H561Y|ITSN1_ENST00000399338.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399349.1_Missense_Mutation_p.H561Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	561	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAACAGTTTGCACAGTAGGTG	0.408																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(1681-1683)Cac>Tac		intersectin 1 (SH3 domain protein)							90.0	89.0	89.0					21																	35153849		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35153849C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1681C>T	21.37:g.35153849C>T	ENSP00000370719:p.His561Tyr					ITSN1_ENST00000399353.1_Missense_Mutation_p.H524Y|ITSN1_ENST00000399367.3_Missense_Mutation_p.H561Y|ITSN1_ENST00000437442.2_Missense_Mutation_p.H561Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000381291.4_Missense_Mutation_p.H561Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.H561Y|ITSN1_ENST00000399352.1_Missense_Mutation_p.H561Y|ITSN1_ENST00000399338.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.H561Y|ITSN1_ENST00000379960.5_Missense_Mutation_p.H561Y|ITSN1_ENST00000399326.3_Missense_Mutation_p.H561Y	p.H561Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			15	1969	+			561			KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.1681C>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661389	0.88154	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.30714	2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;1.52;2.59;2.59;1.52	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.46249	0.1383	L	0.34521	1.04	0.80722	D	1	D;D;D;P;D;D;P;P;D;D	0.76494	0.999;0.997;0.963;0.908;0.999;0.993;0.947;0.947;0.998;0.997	P;P;P;P;D;P;P;P;D;P	0.67725	0.904;0.834;0.715;0.589;0.953;0.866;0.521;0.696;0.947;0.834	T	0.30765	-0.9967	10	0.48119	T	0.1	.	19.6332	0.95719	0.0:1.0:0.0:0.0	.	524;524;524;561;561;561;561;561;561;524	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	Y	524;561;561;561;561;561;561;561;561;561;561;561;561;561	ENSP00000382290:H524Y;ENSP00000370719:H561Y;ENSP00000370691:H561Y;ENSP00000370685:H561Y;ENSP00000382301:H561Y;ENSP00000382289:H561Y;ENSP00000382292:H561Y;ENSP00000382286:H561Y;ENSP00000382275:H561Y;ENSP00000387377:H561Y;ENSP00000382265:H561Y;ENSP00000369294:H561Y	ENSP00000369294:H561Y	H	+	1	0	ITSN1	34075719	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.549000	0.82163	2.638000	0.89438	0.557000	0.71058	CAC		0.408	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		4	71	0	0	0	1	0	4	71				
F2RL1	2150	broad.mit.edu	37	5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	rs149001132		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	365					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.R365H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448																																						ENST00000296677.4																			1	Substitution - Missense(1)	p.R365H(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(1093-1095)cGc>cAc		coagulation factor II (thrombin) receptor-like 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	221.0	222.0	222.0		1094	4.4	0.6	5	dbSNP_134	222	0,8600		0,0,4300	no	missense	F2RL1	NM_005242.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	365/398	76129526	1,13005	2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129526G>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.1094G>A	5.37:g.76129526G>A	ENSP00000296677:p.Arg365His						p.R365H	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1300	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	365					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.1094G>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192238	0.58017	2.27E-4	0.0	ENSG00000164251	ENST00000296677	T	0.40225	1.04	5.3	4.43	0.53597	.	0.111618	0.64402	D	0.000013	T	0.62405	0.2425	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.63726	-0.6572	9	.	.	.	-18.6704	13.8882	0.63721	0.0735:0.0:0.9265:0.0	.	365	P55085	PAR2_HUMAN	H	365	ENSP00000296677:R365H	.	R	+	2	0	F2RL1	76165282	1.000000	0.71417	0.640000	0.29408	0.271000	0.26615	9.808000	0.99193	1.236000	0.43740	-0.136000	0.14681	CGC		0.448	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			55	198	0	0	0	1	0	55	198				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	26	0	0	0	1	0	3	26				
GPR75	10936	broad.mit.edu	37	2	54081033	54081033	+	Silent	SNP	T	T	C	rs369707376		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr2:54081033T>C	ENST00000394705.2	-	2	1131	c.861A>G	c.(859-861)ggA>ggG	p.G287G	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	287					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTTGGTATATCCACGGGTCT	0.562																																						ENST00000394705.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(859-861)ggA>ggG		G protein-coupled receptor 75		T	,	0,4406		0,0,2203	170.0	148.0	155.0		,861	-9.2	0.7	2		155	3,8597	3.0+/-9.4	0,3,4297	no	intron,coding-synonymous	GPR75,GPR75-ASB3	NM_001164165.1,NM_006794.3	,	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	,	,287/541	54081033	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081033T>C	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.861A>G	2.37:g.54081033T>C						ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron	p.G287G	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1131	-			287					B2RC02|Q6NWR2	Silent	SNP	ENST00000394705.2	37	c.861A>G	CCDS1849.1																																																																																				0.562	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			4	19	0	0	0	1	0	4	19				
RYR2	6262	broad.mit.edu	37	1	237890418	237890418	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr1:237890418T>C	ENST00000366574.2	+	76	11074	c.10757T>C	c.(10756-10758)gTa>gCa	p.V3586A	RYR2_ENST00000360064.6_Missense_Mutation_p.V3584A|RYR2_ENST00000542537.1_Missense_Mutation_p.V3570A|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3586	Interaction with CALM.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAAAGGCTGTATGGCATAAA	0.393																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(10756-10758)gTa>gCa		ryanodine receptor 2 (cardiac)							85.0	82.0	83.0					1																	237890418		1846	4084	5930	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237890418T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10757T>C	1.37:g.237890418T>C	ENSP00000355533:p.Val3586Ala					RYR2_ENST00000360064.6_Missense_Mutation_p.V3584A|RYR2_ENST00000542537.1_Missense_Mutation_p.V3570A	p.V3586A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		76	11074	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3586					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10757T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.727365	0.48833	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96802	-4.13;-4.1;-4.12	4.98	4.98	0.66077	.	0.000000	0.50627	U	0.000101	D	0.97046	0.9035	L	0.55834	1.745	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.96455	0.9337	10	0.33940	T	0.23	-16.018	14.9985	0.71451	0.0:0.0:0.0:1.0	.	3586	Q92736	RYR2_HUMAN	A	3586;3584;3570;541	ENSP00000355533:V3586A;ENSP00000353174:V3584A;ENSP00000443798:V3570A	ENSP00000353174:V3584A	V	+	2	0	RYR2	235957041	1.000000	0.71417	0.079000	0.20413	0.866000	0.49608	7.997000	0.88414	2.005000	0.58758	0.528000	0.53228	GTA		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	37	0	0	0	1	0	4	37				
PCLO	27445	broad.mit.edu	37	7	82595691	82595691	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:82595691G>T	ENST00000333891.9	-	4	3750	c.3413C>A	c.(3412-3414)cCt>cAt	p.P1138H	PCLO_ENST00000423517.2_Missense_Mutation_p.P1138H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTAGGAACAGGCATAGGAGA	0.428																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3412-3414)cCt>cAt		piccolo presynaptic cytomatrix protein							126.0	122.0	123.0					7																	82595691		2017	4181	6198	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595691G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3413C>A	7.37:g.82595691G>T	ENSP00000334319:p.Pro1138His					PCLO_ENST00000333891.8_Missense_Mutation_p.P1138H	p.P1138H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	3750	-			1077						Missense_Mutation	SNP	ENST00000333891.9	37	c.3413C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759884	0.15846	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.25	5.59	5.59	0.84812	.	.	.	.	.	T	0.22085	0.0532	L	0.29908	0.895	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.52267	0.694;0.694	T	0.00314	-1.1824	9	0.87932	D	0	.	14.1646	0.65469	0.0717:0.0:0.9283:0.0	.	1138;1138	Q9Y6V0-5;Q9Y6V0-6	.;.	H	1077;1138;1138	ENSP00000334319:P1138H;ENSP00000388393:P1138H	ENSP00000334319:P1138H	P	-	2	0	PCLO	82433627	1.000000	0.71417	0.698000	0.30274	0.022000	0.10575	6.995000	0.76257	2.763000	0.94921	0.655000	0.94253	CCT		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	53	1	0	0.00307968	1	0.00322633	6	53				
PCDHB8	56128	broad.mit.edu	37	5	140559227	140559227	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:140559227G>A	ENST00000239444.2	+	1	1857	c.1612G>A	c.(1612-1614)Ggc>Agc	p.G538S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGACCGCGGCTCCCCGGC	0.667																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1612-1614)Ggc>Agc									66.0	113.0	97.0					5																	140559227		2203	4299	6502	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559227G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1612G>A	5.37:g.140559227G>A	ENSP00000239444:p.Gly538Ser						p.G538S	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1857	+			538			Cadherin 5.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1612G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376331	0.61735	.	.	ENSG00000120322	ENST00000239444	T	0.01647	4.71	4.22	4.22	0.49857	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17831	0.0428	H	0.95850	3.73	0.51012	D	0.999906	D	0.89917	1.0	D	0.87578	0.998	T	0.30650	-0.9971	9	0.87932	D	0	.	16.2834	0.82708	0.0:0.0:1.0:0.0	.	538	Q9UN66	PCDB8_HUMAN	S	538	ENSP00000239444:G538S	ENSP00000239444:G538S	G	+	1	0	PCDHB8	140539411	1.000000	0.71417	0.942000	0.38095	0.031000	0.12232	9.342000	0.97044	1.915000	0.55452	0.298000	0.19748	GGC		0.667	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		4	209	0	0	0	1	0	4	209				
MAP7	9053	broad.mit.edu	37	6	136686877	136686877	+	Silent	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr6:136686877G>A	ENST00000354570.3	-	10	1679	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	MAP7_ENST00000432797.2_Silent_p.G277G|RP3-406A7.3_ENST00000571188.1_RNA|MAP7_ENST00000454590.1_Silent_p.G445G|MAP7_ENST00000544465.1_Silent_p.G408G|MAP7_ENST00000438100.2_Silent_p.G408G	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	423	Pro-rich.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCTTACCAGGGCCAACTTCTG	0.463																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1267-1269)ggC>ggT		microtubule-associated protein 7							68.0	74.0	72.0					6																	136686877		2203	4300	6503	SO:0001819	synonymous_variant	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136686877G>A	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1269C>T	6.37:g.136686877G>A						MAP7_ENST00000432797.2_Silent_p.G277G|MAP7_ENST00000544465.1_Silent_p.G408G|MAP7_ENST00000454590.1_Silent_p.G445G|MAP7_ENST00000438100.2_Silent_p.G408G	p.G423G	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	10	1679	-	Colorectal(23;0.24)		423			Pro-rich.		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	ENST00000354570.3	37	c.1269C>T	CCDS5178.1																																																																																				0.463	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		3	47	0	0	0	1	0	3	47				
WNT7A	7476	broad.mit.edu	37	3	13916574	13916574	+	Silent	SNP	G	G	A	rs145281257	byFrequency	TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr3:13916574G>A	ENST00000285018.4	-	2	472	c.168C>T	c.(166-168)ccC>ccT	p.P56P	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	56					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGATGGCGTCGGGCCGGCTCT	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		18170	0.0		0.002	False		,,,				2504	0.0					ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(166-168)ccC>ccT		wingless-type MMTV integration site family, member 7A							56.0	53.0	54.0					3																	13916574		2203	4300	6503	SO:0001819	synonymous_variant	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13916574G>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.168C>T	3.37:g.13916574G>A						WNT7A_ENST00000497808.1_5'UTR	p.P56P	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			2	472	-			56					Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	c.168C>T	CCDS2616.1																																																																																				0.602	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		6	36	0	0	0	1	0	6	36				
CD209	30835	broad.mit.edu	37	19	7808071	7808071	+	Missense_Mutation	SNP	C	C	T	rs200282091		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:7808071C>T	ENST00000315599.7	-	7	1091	c.1069G>A	c.(1069-1071)Gcg>Acg	p.A357T	CD209_ENST00000394173.4_Missense_Mutation_p.A196T|CD209_ENST00000602261.1_Missense_Mutation_p.A265T|CD209_ENST00000354397.6_Missense_Mutation_p.A351T|CD209_ENST00000301357.8_Missense_Mutation_p.A221T|CD209_ENST00000593821.1_Missense_Mutation_p.A221T|CD209_ENST00000315591.8_Missense_Mutation_p.A333T|CD209_ENST00000394161.5_Missense_Mutation_p.A121T|CD209_ENST00000593660.1_Missense_Mutation_p.A287T|CD209_ENST00000601951.1_Missense_Mutation_p.A333T|CD209_ENST00000601256.1_Missense_Mutation_p.R295H|CD209_ENST00000204801.8_Missense_Mutation_p.A313T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	357	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAAATTCCGCGCAGTCTTCC	0.527													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19290	0.0		0.0	False		,,,				2504	0.0					ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1069-1071)Gcg>Acg		CD209 molecule		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	251.0	229.0	236.0		661,937,793,997,1051,586,1069	3.5	0.0	19		236	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	CD209	NM_001144893.1,NM_001144894.1,NM_001144895.1,NM_001144896.1,NM_001144897.1,NM_001144899.1,NM_021155.3	58,58,58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	221/269,313/361,265/313,333/381,351/399,196/244,357/405	7808071	1,13005	2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7808071C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.1069G>A	19.37:g.7808071C>T	ENSP00000315477:p.Ala357Thr					CD209_ENST00000602261.1_Missense_Mutation_p.A265T|CD209_ENST00000315591.8_Missense_Mutation_p.A333T|CD209_ENST00000601951.1_Missense_Mutation_p.A333T|CD209_ENST00000601256.1_Missense_Mutation_p.R295H|CD209_ENST00000354397.6_Missense_Mutation_p.A351T|CD209_ENST00000593821.1_Missense_Mutation_p.A221T|CD209_ENST00000593660.1_Missense_Mutation_p.A287T|CD209_ENST00000394161.5_Missense_Mutation_p.A121T|CD209_ENST00000301357.8_Missense_Mutation_p.A221T|CD209_ENST00000394173.4_Missense_Mutation_p.A196T|CD209_ENST00000204801.8_Missense_Mutation_p.A313T	p.A357T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			7	1091	-			357			C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.1069G>A	CCDS12186.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.08	2.427520	0.43122	0.0	1.16E-4	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000394161	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	3.45	3.45	0.39498	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.40815	0.1132	M	0.69463	2.115	0.09310	N	1	B;D;D;D;P;B;D;D;D;P;D	0.69078	0.438;0.997;0.985;0.996;0.93;0.379;0.975;0.957;0.986;0.903;0.96	B;D;B;D;B;B;B;B;P;B;B	0.65573	0.054;0.936;0.351;0.933;0.182;0.024;0.432;0.15;0.556;0.064;0.239	T	0.08391	-1.0724	9	0.66056	D	0.02	.	10.7263	0.46070	0.0:1.0:0.0:0.0	.	357;121;351;313;221;333;265;357;287;333;357	B2R907;Q9NNX6-4;Q9NNX6-2;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	T	357;351;333;313;265;221;121	ENSP00000315477:A357T;ENSP00000346373:A351T;ENSP00000315407:A333T;ENSP00000204801:A313T;ENSP00000301357:A221T;ENSP00000377716:A121T	ENSP00000204801:A313T	A	-	1	0	CD209	7714071	0.006000	0.16342	0.012000	0.15200	0.015000	0.08874	2.594000	0.46189	2.221000	0.72209	0.455000	0.32223	GCG		0.527	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		5	208	0	0	0	1	0	5	208				
ANKRD30A	91074	broad.mit.edu	37	10	37454053	37454053	+	Silent	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr10:37454053G>A	ENST00000602533.1	+	18	1965	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	ANKRD30A_ENST00000374660.1_Silent_p.K622K|ANKRD30A_ENST00000361713.1_Silent_p.K622K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	678					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAAACAAAAGGACTATGAAG	0.294																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1864-1866)aaG>aaA		ankyrin repeat domain 30A							129.0	124.0	126.0					10																	37454053		1811	4062	5873	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37454053G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1866G>A	10.37:g.37454053G>A						ANKRD30A_ENST00000602533.1_Silent_p.K622K|ANKRD30A_ENST00000361713.1_Silent_p.K622K	p.K622K			Q9BXX3	AN30A_HUMAN			18	1965	+			678					Q5W025	Silent	SNP	ENST00000602533.1	37	c.1866G>A																																																																																					0.294	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		13	14	0	0	0	1	0	13	14				
TP53	7157	broad.mit.edu	37	17	7578262	7578262	+	Missense_Mutation	SNP	C	C	G	rs483352697		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr17:7578262C>G	ENST00000269305.4	-	6	776	c.587G>C	c.(586-588)cGa>cCa	p.R196P	TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000413465.2_Missense_Mutation_p.R196P|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R196P|TP53_ENST00000420246.2_Missense_Mutation_p.R196P|TP53_ENST00000445888.2_Missense_Mutation_p.R196P	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(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)	TCCTTCCACTCGGATAAGATG	0.547		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"""		51	Substitution - Missense(26)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Deletion - Frameshift(1)|Complex - frameshift(1)	p.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(1)	lung(11)|breast(9)|biliary_tract(5)|skin(5)|pancreas(5)|bone(4)|central_nervous_system(3)|stomach(2)|large_intestine(2)|urinary_tract(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|thymus(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	CM984587	TP53	M		c.(586-588)cGa>cCa	Other conserved DNA damage response genes	tumor protein p53							104.0	93.0	96.0					17																	7578262		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.chr17:7578262C>G	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.587G>C	17.37:g.7578262C>G	ENSP00000269305:p.Arg196Pro	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.R196P|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R196P|TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000413465.2_Missense_Mutation_p.R196P|TP53_ENST00000455263.2_Missense_Mutation_p.R196P	p.R196P	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)	6	719	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.587G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030593	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.41	4.43	0.53597	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	0.99871	0.9939	M	0.91872	3.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.995;1.0;0.999;0.999;1.0	D	0.96402	0.9297	10	0.87932	D	0	-19.9531	13.7077	0.62651	0.1553:0.8447:0.0:0.0	.	157;196;196;103;196;196;196	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	196;196;196;196;196;196;185;103;64;103;64	ENSP00000410739:R196P;ENSP00000352610:R196P;ENSP00000269305:R196P;ENSP00000398846:R196P;ENSP00000391127:R196P;ENSP00000391478:R196P;ENSP00000425104:R64P;ENSP00000423862:R103P	ENSP00000269305:R196P	R	-	2	0	TP53	7518987	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	7.775000	0.85489	1.410000	0.46936	0.655000	0.94253	CGA		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	11	0	0	0	1	0	17	11				
CAMSAP3	57662	broad.mit.edu	37	19	7677012	7677012	+	Missense_Mutation	SNP	G	G	A	rs376504713		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:7677012G>A	ENST00000160298.4	+	11	1734	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.E572K	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	545	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGCCCCATCCGAGGGGTCCCC	0.617																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(1714-1716)Gag>Aag		calmodulin regulated spectrin-associated protein family, member 3		G	LYS/GLU,LYS/GLU	1,3859		0,1,1929	25.0	30.0	28.0		1714,1633	4.1	0.9	19		28	0,8230		0,0,4115	no	missense,missense	CAMSAP3	NM_001080429.2,NM_020902.1	56,56	0,1,6044	AA,AG,GG		0.0,0.0259,0.0083	benign,benign	572/1277,545/1250	7677012	1,12089	1930	4115	6045	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7677012G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1633G>A	19.37:g.7677012G>A	ENSP00000160298:p.Glu545Lys					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E545K	p.E572K	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			13	1815	+			545					Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.1714G>A	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	g	1.167	-0.641991	0.03531	2.59E-4	0.0	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.14391	2.52;2.51	4.14	4.14	0.48551	.	2.430320	0.01889	N	0.038424	T	0.13500	0.0327	L	0.46157	1.445	0.33678	D	0.611756	B;P	0.41313	0.041;0.745	B;B	0.31016	0.005;0.123	T	0.36187	-0.9758	10	0.16896	T	0.51	-11.4892	11.288	0.49232	0.0:0.1859:0.8141:0.0	.	545;572	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	K	572;545	ENSP00000416797:E572K;ENSP00000160298:E545K	ENSP00000160298:E545K	E	+	1	0	KIAA1543	7583012	0.571000	0.26659	0.865000	0.33974	0.151000	0.21798	1.373000	0.34272	1.839000	0.53478	0.544000	0.68410	GAG		0.617	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		8	22	0	0	0	1	0	8	22				
EEA1	8411	broad.mit.edu	37	12	93181751	93181751	+	Missense_Mutation	SNP	T	T	C	rs371386535		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:93181751T>C	ENST00000322349.8	-	22	3306	c.3042A>G	c.(3040-3042)atA>atG	p.I1014M		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1014	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTAATACTGATATTTTCTCTT	0.378																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(3040-3042)atA>atG		early endosome antigen 1							74.0	70.0	71.0					12																	93181751		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93181751T>C	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3042A>G	12.37:g.93181751T>C	ENSP00000317955:p.Ile1014Met						p.I1014M	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			22	3306	-			1014			Gln/Glu/Lys-rich.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.3042A>G	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	5.843	0.339819	0.11069	.	.	ENSG00000102189	ENST00000322349	T	0.65364	-0.15	6.06	-8.56	0.00904	.	0.679557	0.13250	N	0.402181	T	0.30665	0.0772	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12528	-1.0544	10	0.23302	T	0.38	.	4.8935	0.13738	0.1783:0.4449:0.0911:0.2857	.	1014	Q15075	EEA1_HUMAN	M	1014	ENSP00000317955:I1014M	ENSP00000317955:I1014M	I	-	3	3	EEA1	91705882	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-2.454000	0.01004	-1.082000	0.03101	-0.280000	0.10049	ATA		0.378	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		3	33	0	0	0	1	0	3	33				
FAM129C	199786	broad.mit.edu	37	19	17641666	17641666	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:17641666C>T	ENST00000335393.4	+	3	389	c.251C>T	c.(250-252)cCg>cTg	p.P84L	FAM129C_ENST00000352727.3_Missense_Mutation_p.P84L|FAM129C_ENST00000597887.1_Intron|FAM129C_ENST00000601861.1_Missense_Mutation_p.P53L|FAM129C_ENST00000300971.2_Missense_Mutation_p.P84L|FAM129C_ENST00000449408.2_Intron|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000599124.1_Missense_Mutation_p.P53L|FAM129C_ENST00000332386.5_Missense_Mutation_p.P84L|FAM129C_ENST00000595684.1_Missense_Mutation_p.P84L|FAM129C_ENST00000599164.1_Missense_Mutation_p.P53L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	84										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CCTCAGGAGCCGACCGGAAGC	0.637																																						ENST00000335393.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(250-252)cCg>cTg		family with sequence similarity 129, member C							59.0	57.0	58.0					19																	17641666		2203	4300	6503	SO:0001583	missense	199786							g.chr19:17641666C>T	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.251C>T	19.37:g.17641666C>T	ENSP00000335040:p.Pro84Leu					FAM129C_ENST00000599164.1_Missense_Mutation_p.P53L|FAM129C_ENST00000300971.2_Missense_Mutation_p.P84L|FAM129C_ENST00000352727.3_Missense_Mutation_p.P84L|FAM129C_ENST00000595684.1_Missense_Mutation_p.P84L|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000597887.1_Intron|FAM129C_ENST00000332386.5_Missense_Mutation_p.P84L|FAM129C_ENST00000599124.1_Missense_Mutation_p.P53L|FAM129C_ENST00000601861.1_Missense_Mutation_p.P53L|FAM129C_ENST00000449408.2_Intron	p.P84L	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN			3	389	+			84					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.251C>T	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675533	0.47781	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971	T;T;T;T	0.23754	2.18;2.2;1.89;1.89	5.15	2.89	0.33648	.	0.464154	0.18014	N	0.154441	T	0.45438	0.1342	M	0.68317	2.08	0.53005	D	0.999963	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.37842	-0.9688	10	0.59425	D	0.04	-32.4105	9.4628	0.38796	0.4723:0.5277:0.0:0.0	.	84;84	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	L	84	ENSP00000335040:P84L;ENSP00000333447:P84L;ENSP00000341067:P84L;ENSP00000300971:P84L	ENSP00000300971:P84L	P	+	2	0	FAM129C	17502666	0.397000	0.25270	0.776000	0.31678	0.263000	0.26337	0.891000	0.28309	1.136000	0.42199	0.436000	0.28706	CCG		0.637	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		6	38	0	0	0	1	0	6	38				
MTMR8	55613	broad.mit.edu	37	X	63579299	63579299	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:63579299G>A	ENST00000374852.3	-	2	200	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	MTMR8_ENST00000453546.1_Missense_Mutation_p.R45W	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	45						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GTTTCTTTCCGGGCTGCACCT	0.408																																						ENST00000374852.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(133-135)Cgg>Tgg		myotubularin related protein 8							105.0	95.0	99.0					X																	63579299		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63579299G>A	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.133C>T	X.37:g.63579299G>A	ENSP00000363985:p.Arg45Trp					MTMR8_ENST00000453546.1_Missense_Mutation_p.R45W	p.R45W	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			2	200	-			45					Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.133C>T	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674513	0.47781	.	.	ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400	D;D	0.82711	-1.64;-1.64	3.56	0.665	0.17896	.	0.302135	0.19440	U	0.114201	D	0.88847	0.6548	M	0.87180	2.865	0.27834	N	0.941349	B;D	0.76494	0.006;0.999	B;D	0.68765	0.002;0.96	T	0.80296	-0.1442	10	0.87932	D	0	.	4.2909	0.10878	0.2192:0.0:0.602:0.1789	.	45;45	B4DQL0;Q96EF0	.;MTMR8_HUMAN	W	45;45;44	ENSP00000394003:R45W;ENSP00000363985:R45W	ENSP00000247400:R44W	R	-	1	2	MTMR8	63496024	0.397000	0.25270	0.140000	0.22221	0.997000	0.91878	0.730000	0.26043	-0.220000	0.09988	0.513000	0.50165	CGG		0.408	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		9	37	0	0	0	1	0	9	37				
HELZ	9931	broad.mit.edu	37	17	65074523	65074523	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr17:65074523G>C	ENST00000358691.5	-	33	5840	c.5674C>G	c.(5674-5676)Ccc>Gcc	p.P1892A	HELZ_ENST00000580168.1_Missense_Mutation_p.P1893A	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1892						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GACATGGCGGGCTTGCCCCCC	0.627																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5674-5676)Ccc>Gcc		helicase with zinc finger							63.0	68.0	66.0					17																	65074523		1899	4106	6005	SO:0001583	missense	9931							g.chr17:65074523G>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5674C>G	17.37:g.65074523G>C	ENSP00000351524:p.Pro1892Ala					HELZ_ENST00000580168.1_Missense_Mutation_p.P1893A	p.P1892A	NM_014877.3	NP_055692.2					33	5840	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.5674C>G	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767257	0.31320	.	.	ENSG00000198265	ENST00000358691	D	0.95821	-3.82	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.97193	0.9859	10	0.87932	D	0	-12.7088	19.324	0.94254	0.0:0.0:1.0:0.0	.	1893;1892	B7ZLW2;P42694	.;HELZ_HUMAN	A	1892	ENSP00000351524:P1892A	ENSP00000351524:P1892A	P	-	1	0	HELZ	62504985	1.000000	0.71417	0.992000	0.48379	0.830000	0.47004	8.972000	0.93424	2.544000	0.85801	0.655000	0.94253	CCC		0.627	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		4	115	0	0	0	1	0	4	115				
KANK1	23189	broad.mit.edu	37	9	742321	742321	+	Silent	SNP	C	C	G			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr9:742321C>G	ENST00000382303.1	+	14	4465	c.3813C>G	c.(3811-3813)ctC>ctG	p.L1271L	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.L1271L|KANK1_ENST00000382293.3_Silent_p.L1113L	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1271	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CCACGGCCCTCATGTGTGCCA	0.602																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3811-3813)ctC>ctG		KN motif and ankyrin repeat domains 1							77.0	76.0	76.0					9																	742321		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:742321C>G	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3813C>G	9.37:g.742321C>G						KANK1_ENST00000382293.3_Silent_p.L1113L|KANK1_ENST00000382297.2_Silent_p.L1271L|KANK1_ENST00000489369.1_3'UTR	p.L1271L	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	14	4465	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1271					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3813C>G	CCDS34976.1																																																																																				0.602	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		3	47	0	0	0	1	0	3	47				
ATRX	546	broad.mit.edu	37	X	76829760	76829760	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:76829760G>C	ENST00000373344.5	-	28	6495	c.6281C>G	c.(6280-6282)tCa>tGa	p.S2094*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S2056*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2094	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.?(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						CTTCTTCCTTGACTGTGCAGT	0.313			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6280-6282)tCa>tGa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						139.0	125.0	130.0					X																	76829760		2203	4296	6499	SO:0001587	stop_gained	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:76829760G>C	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.6281C>G	X.37:g.76829760G>C	ENSP00000362441:p.Ser2094*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S2056*	p.S2094*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			28	6495	-			2094			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.6281C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	-	49	15.142353	0.99824	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.45	5.45	0.79879	.	0.093852	0.45867	U	0.000331	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-4.7825	18.0086	0.89216	0.0:0.0:1.0:0.0	.	.	.	.	X	2094;2056	.	ENSP00000362441:S2094X	S	-	2	0	ATRX	76716416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.949000	0.93012	2.288000	0.76882	0.540000	0.68198	TCA		0.313	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		16	102	0	0	0	1	0	16	102				
ABCC4	10257	broad.mit.edu	37	13	95686882	95686882	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr13:95686882C>T	ENST00000376887.4	-	30	3961	c.3847G>A	c.(3847-3849)Gcc>Acc	p.A1283T	ABCC4_ENST00000412704.1_Missense_Mutation_p.A1236T	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1283					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TCAGTGAGGGCAGCGGCTTCT	0.473																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3847-3849)Gcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						88.0	80.0	83.0					13																	95686882		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95686882C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3847G>A	13.37:g.95686882C>T	ENSP00000366084:p.Ala1283Thr					ABCC4_ENST00000412704.1_Missense_Mutation_p.A1236T	p.A1283T	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			30	3961	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1283					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.3847G>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082148	0.36758	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.90620	-2.7;-2.68	6.17	5.32	0.75619	.	0.222110	0.46145	D	0.000316	D	0.85622	0.5739	L	0.38649	1.16	0.80722	D	1	B;P;B	0.35077	0.248;0.483;0.44	B;B;B	0.38985	0.287;0.084;0.169	T	0.80520	-0.1346	10	0.19590	T	0.45	.	10.795	0.46455	0.1573:0.7727:0.0:0.07	.	1236;873;1283	O15439-2;O75555;O15439	.;.;MRP4_HUMAN	T	1236;1283	ENSP00000388657:A1236T;ENSP00000366084:A1283T	ENSP00000366084:A1283T	A	-	1	0	ABCC4	94484883	0.813000	0.29090	0.998000	0.56505	0.973000	0.67179	1.046000	0.30354	2.941000	0.99782	0.655000	0.94253	GCC		0.473	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		5	49	0	0	0	1	0	5	49				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			20	29	0	0	0	1	0	20	29				
UGT3A2	167127	broad.mit.edu	37	5	36035966	36035966	+	Missense_Mutation	SNP	G	G	A	rs199567567		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:36035966G>A	ENST00000282507.3	-	7	1507	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	UGT3A2_ENST00000545528.1_Missense_Mutation_p.T167M|UGT3A2_ENST00000513300.1_Missense_Mutation_p.T435M	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	469					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGAGGTGCGTCGCGCCCCC	0.627																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(1405-1407)aCg>aTg		UDP glycosyltransferase 3 family, polypeptide A2		G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	54.0	48.0	50.0		1304,1406	1.9	0.0	5		50	0,8600		0,0,4300	no	missense,missense	UGT3A2	NM_001168316.1,NM_174914.3	81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	435/490,469/524	36035966	2,13004	2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36035966G>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1406C>T	5.37:g.36035966G>A	ENSP00000282507:p.Thr469Met					UGT3A2_ENST00000545528.1_Missense_Mutation_p.T167M|UGT3A2_ENST00000513300.1_Missense_Mutation_p.T435M	p.T469M	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1507	-	all_lung(31;0.000179)		469					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1406C>T	CCDS3914.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.410	0.075871	0.08485	4.54E-4	0.0	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.59772	0.24;0.24;0.24	2.74	1.86	0.25419	.	0.469551	0.17381	U	0.176282	T	0.50480	0.1618	L	0.43923	1.385	0.09310	N	1	P;P	0.42908	0.688;0.793	P;B	0.46144	0.505;0.436	T	0.42816	-0.9429	10	0.72032	D	0.01	.	5.1652	0.15082	0.1188:0.0:0.6791:0.2021	.	435;469	E9PFK7;Q3SY77	.;UD3A2_HUMAN	M	469;435;167	ENSP00000282507:T469M;ENSP00000427404:T435M;ENSP00000445367:T167M	ENSP00000282507:T469M	T	-	2	0	UGT3A2	36071723	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.542000	0.23222	0.717000	0.32145	-0.222000	0.12452	ACG		0.627	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		4	22	0	0	0	1	0	4	22				
SMG8	55181	broad.mit.edu	37	17	57290560	57290560	+	Silent	SNP	A	A	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr17:57290560A>C	ENST00000543872.2	+	4	2640	c.2376A>C	c.(2374-2376)acA>acC	p.T792T	SMG8_ENST00000300917.5_Silent_p.T792T|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	792					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TTCCAGGAACAAATTATCTTA	0.428																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(2374-2376)acA>acC		SMG8 nonsense mediated mRNA decay factor							111.0	114.0	113.0					17																	57290560		2203	4300	6503	SO:0001819	synonymous_variant	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57290560A>C	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2376A>C	17.37:g.57290560A>C						SMG8_ENST00000300917.5_Silent_p.T792T|CTD-2510F5.6_ENST00000577660.1_Intron	p.T792T			Q8ND04	SMG8_HUMAN			4	2640	+			792					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	ENST00000543872.2	37	c.2376A>C	CCDS11615.1																																																																																				0.428	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		5	106	0	0	0	1	0	5	106				
THSD4	79875	broad.mit.edu	37	15	72020908	72020908	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr15:72020908C>T	ENST00000355327.3	+	9	1512	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	THSD4_ENST00000357769.4_Missense_Mutation_p.R100C|THSD4_ENST00000261862.6_Missense_Mutation_p.R460C|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	460					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.R460C(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCGTTCTGGACGCTCCATCAT	0.507																																						ENST00000355327.3																			2	Substitution - Missense(2)	p.R460C(2)	lung(2)	breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1378-1380)Cgc>Tgc		thrombospondin, type I, domain containing 4							125.0	117.0	119.0					15																	72020908		1915	4114	6029	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72020908C>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1378C>T	15.37:g.72020908C>T	ENSP00000347484:p.Arg460Cys					THSD4_ENST00000261862.6_Missense_Mutation_p.R460C|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R100C	p.R460C			Q6ZMP0	THSD4_HUMAN			9	1512	+			460					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1378C>T	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938037	0.73557	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.53640	0.61;0.61;0.61	5.17	5.17	0.71159	ADAM-TS Spacer 1 (1);	1.051040	0.07476	N	0.903020	T	0.69214	0.3086	M	0.69523	2.12	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.973;0.992;0.981	T	0.60224	-0.7305	10	0.72032	D	0.01	.	11.2941	0.49267	0.1821:0.8179:0.0:0.0	.	100;100;460;460	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	C	460;460;100	ENSP00000347484:R460C;ENSP00000261862:R460C;ENSP00000350413:R100C	ENSP00000261862:R460C	R	+	1	0	THSD4	69807962	0.973000	0.33851	1.000000	0.80357	0.885000	0.51271	2.389000	0.44407	2.404000	0.81709	0.462000	0.41574	CGC		0.507	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		19	50	0	0	0	1	0	19	50				
ZNF442	79973	broad.mit.edu	37	19	12460800	12460800	+	Silent	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:12460800G>A	ENST00000242804.4	-	6	2181	c.1599C>T	c.(1597-1599)gtC>gtT	p.V533V	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Silent_p.V464V	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCCTTTCATGGACTTTTAAGT	0.388																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1597-1599)gtC>gtT		zinc finger protein 442							90.0	89.0	90.0					19																	12460800		2203	4300	6503	SO:0001819	synonymous_variant	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12460800G>A	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1599C>T	19.37:g.12460800G>A						ZNF442_ENST00000438182.1_Silent_p.V464V	p.V533V	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	2181	-			533					B4DJ48	Silent	SNP	ENST00000242804.4	37	c.1599C>T	CCDS12271.1																																																																																				0.388	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		23	38	0	0	0	1	0	23	38				
SOWAHB	345079	broad.mit.edu	37	4	77817919	77817922	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr4:77817919_77817922delAGAG	ENST00000334306.2	-	1	1080_1083	c.1081_1084delCTCT	c.(1081-1086)ctctttfs	p.LF361fs		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	361																	ACAACAGGAAAGAGAGAGTGCGAG	0.578																																						ENST00000334306.2																			0											c.(1081-1086)ttfs		sosondowah ankyrin repeat domain family member B																																				SO:0001589	frameshift_variant	345079							g.chr4:77817919_77817922delAGAG		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1081_1084delCTCT	4.37:g.77817923_77817926delAGAG	ENSP00000334879:p.Leu361fs						p.LF361fs	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1080_1083	-			361					B2RP29	Frame_Shift_Del	DEL	ENST00000334306.2	37	c.1081_1084delCTCT	CCDS34017.1																																																																																				0.578	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		8	120						8	120	---	---	---	---
ZNF273	10793	broad.mit.edu	37	7	64388965	64388966	+	Frame_Shift_Del	DEL	AT	AT	-	rs544422858		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:64388965_64388966delAT	ENST00000476120.1	+	4	1330_1331	c.1259_1260delAT	c.(1258-1260)catfs	p.H420fs	ZNF273_ENST00000319636.5_Frame_Shift_Del_p.H355fs|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTTACTAAACATAAGAGAATTT	0.337																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1258-1260)cfs		zinc finger protein 273																																				SO:0001589	frameshift_variant	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64388965_64388966delAT	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1259_1260delAT	7.37:g.64388965_64388966delAT	ENSP00000418719:p.His420fs					ZNF273_ENST00000319636.5_Frame_Shift_Del_p.H355fs|ZNF273_ENST00000527278.1_3'UTR	p.H420fs	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN			4	1330_1331	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	420					B3KQZ5|Q6P3V4	Frame_Shift_Del	DEL	ENST00000476120.1	37	c.1259_1260delAT	CCDS5528.2																																																																																				0.337	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			7	33						7	33	---	---	---	---
STEAP4	79689	broad.mit.edu	37	7	87913524	87913525	+	Frame_Shift_Del	DEL	TC	TC	-	rs201913238		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:87913524_87913525delTC	ENST00000380079.4	-	2	161_162	c.60_61delGA	c.(58-63)gagactfs	p.ET20fs	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Frame_Shift_Del_p.ET20fs|STEAP4_ENST00000301959.5_Frame_Shift_Del_p.ET20fs|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	20					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATACATACAGTCTCTTGCTTTT	0.347																																						ENST00000380079.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(58-63)gactfs		STEAP family member 4																																				SO:0001589	frameshift_variant	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87913524_87913525delTC	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.60_61delGA	7.37:g.87913526_87913527delTC	ENSP00000369419:p.Glu20fs					AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Frame_Shift_Del_p.ET20fs|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Frame_Shift_Del_p.ET20fs|AC003991.3_ENST00000600908.1_RNA	p.ET20fs	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN			2	161_162	-	Esophageal squamous(14;0.00802)		20					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Frame_Shift_Del	DEL	ENST00000380079.4	37	c.60_61delGA	CCDS43611.1																																																																																				0.347	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		7	53						7	53	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124384893	124384893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr8:124384893delT	ENST00000287394.5	-	3	461	c.354delA	c.(352-354)aaafs	p.K118fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	118					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E119fs*8(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTGCTCTTCTTTTTTTTTAT	0.269																																						ENST00000287394.5																			1	Deletion - Frameshift(1)	p.E119fs*8(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(352-354)aafs		ATPase family, AAA domain containing 2							144.0	150.0	148.0					8																	124384893		2201	4297	6498	SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124384893delT	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.354delA	8.37:g.124384893delT	ENSP00000287394:p.Lys118fs					ATAD2_ENST00000521903.1_5'UTR	p.K118fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		3	461	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		118					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	c.354delA	CCDS6343.1																																																																																				0.269	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		7	140						7	140	---	---	---	---
NUDT4	11163	broad.mit.edu	37	12	93793075	93793076	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:93793075_93793076delAC	ENST00000415493.2	+	5	890_891	c.463_464delAC	c.(463-465)acafs	p.T155fs	NUDT4_ENST00000549992.1_Frame_Shift_Del_p.T103fs|NUDT4_ENST00000337179.5_Frame_Shift_Del_p.T156fs|NUDT4_ENST00000548662.1_Frame_Shift_Del_p.T103fs|NUDT4_ENST00000547014.1_Frame_Shift_Del_p.T104fs	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	155					calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			endometrium(2)|kidney(1)|lung(2)	5						TGGAAATTCTACAGTCCCTTCC	0.46																																						ENST00000337179.5																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(466-468)afs		nudix (nucleoside diphosphate linked moiety X)-type motif 4																																				SO:0001589	frameshift_variant	11163				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chr12:93793075_93793076delAC	AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"""Nudix motif containing"""	8051	protein-coding gene	gene with protein product	"""diphosphoinositol polyphosphate phosphohydrolase type 2"""	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.463_464delAC	12.37:g.93793075_93793076delAC	ENSP00000406612:p.Thr155fs					NUDT4_ENST00000547014.1_Frame_Shift_Del_p.T104fs|NUDT4_ENST00000548662.1_Frame_Shift_Del_p.T103fs|NUDT4_ENST00000415493.2_Frame_Shift_Del_p.T155fs|NUDT4_ENST00000549992.1_Frame_Shift_Del_p.T103fs	p.T156fs	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN			5	906_907	+			155					B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Frame_Shift_Del	DEL	ENST00000415493.2	37	c.466_467delAC	CCDS44952.1																																																																																				0.460	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1	NM_019094		16	151						16	151	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67872445	67872446	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr18:67872445_67872446delAA	ENST00000255674.6	-	2	423_424	c.137_138delTT	c.(136-138)tttfs	p.F46fs	RTTN_ENST00000454359.1_Frame_Shift_Del_p.F46fs|RTTN_ENST00000437017.1_Frame_Shift_Del_p.F46fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	46					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCAAATGAAGAAAAAGTTGCCT	0.455																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(136-138)tfs		rotatin																																				SO:0001589	frameshift_variant	25914						binding	g.chr18:67872445_67872446delAA	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.137_138delTT	18.37:g.67872447_67872448delAA	ENSP00000255674:p.Phe46fs					RTTN_ENST00000454359.1_Frame_Shift_Del_p.F46fs|RTTN_ENST00000437017.1_Frame_Shift_Del_p.F46fs	p.F46fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			2	423_424	-		Esophageal squamous(42;0.129)	46					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Frame_Shift_Del	DEL	ENST00000255674.6	37	c.137_138delTT	CCDS42443.1																																																																																				0.455	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		11	77						11	77	---	---	---	---
SNRNP70	6625	broad.mit.edu	37	19	49611507	49611507	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:49611507delG	ENST00000598441.1	+	10	1345	c.1121delG	c.(1120-1122)cgtfs	p.R374fs	SNRNP70_ENST00000221448.5_Frame_Shift_Del_p.R365fs			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	374	Arg/Asp/Glu-rich (mixed charge).				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						gaccgtgaccgtgaccgcgag	0.741																																						ENST00000221448.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(1093-1095)ctfs		small nuclear ribonucleoprotein 70kDa (U1)							7.0	10.0	9.0					19																	49611507		2131	4180	6311	SO:0001589	frameshift_variant	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49611507delG		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.1121delG	19.37:g.49611507delG	ENSP00000472998:p.Arg374fs					SNRNP70_ENST00000598441.1_Frame_Shift_Del_p.R374fs	p.R365fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN			10	1290	+			374			Arg/Asp/Glu-rich (mixed charge).		B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Frame_Shift_Del	DEL	ENST00000598441.1	37	c.1094delG	CCDS12756.1																																																																																				0.741	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		2	4						2	4	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56465952	56465954	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:56465952_56465954delCTT	ENST00000291971.3	+	3	599_601	c.528_530delCTT	c.(526-531)gacttc>gac	p.F178del	NLRP8_ENST00000590542.1_In_Frame_Del_p.F178del	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	178					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.F178delF(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCAGAGGGACTTCTTCTACCAA	0.483																																						ENST00000291971.3																			1	Deletion - In frame(1)	p.F178delF(1)	large_intestine(1)	breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(526-531)gac>ga		NLR family, pyrin domain containing 8																																				SO:0001651	inframe_deletion	126205					cytoplasm	ATP binding	g.chr19:56465952_56465954delCTT	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.528_530delCTT	19.37:g.56465955_56465957delCTT	ENSP00000291971:p.Phe178del					NLRP8_ENST00000590542.1_In_Frame_Del_p.DF176del	p.DF176del	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	599_601	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	176					Q7RTR4	In_Frame_Del	DEL	ENST00000291971.3	37	c.528_530delCTT	CCDS12937.1																																																																																				0.483	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		12	89						12	89	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76778806	76778807	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:76778806_76778807delAA	ENST00000373344.5	-	31	6986_6987	c.6772_6773delTT	c.(6772-6774)ttgfs	p.L2258fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.L2220fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2258	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)			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						TTTGTGGTCCAAAAGAGAATCA	0.386			"""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"""		0				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.(6772-6774)gfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			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:76778806_76778807delAA	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.6772_6773delTT	X.37:g.76778808_76778809delAA	ENSP00000362441:p.Leu2258fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.L2220fs|ATRX_ENST00000480283.1_5'UTR	p.L2258fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			31	6986_6987	-			2258					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6772_6773delTT	CCDS14434.1																																																																																				0.386	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		11	152						11	152	---	---	---	---
