#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
SEZ6	124925	broad.mit.edu	37	17	27283247	27283247	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr17:27283247C>G	ENST00000317338.12	-	16	3310	c.2882G>C	c.(2881-2883)cGc>cCc	p.R961P	SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|SEZ6_ENST00000335960.6_Silent_p.P493P			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	961					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ggggcgggggcggggCAGCTG	0.582																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(2881-2883)cGc>cCc		seizure related 6 homolog (mouse)							7.0	10.0	9.0					17																	27283247		1889	4083	5972	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27283247C>G	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2882G>C	17.37:g.27283247C>G	ENSP00000312942:p.Arg961Pro					SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|SEZ6_ENST00000335960.6_Silent_p.P493P	p.R961P			Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		16	3310	-	Lung NSC(42;0.0137)		961					B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.2882G>C	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298116	0.23650	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000540632	T	0.26810	1.71	5.46	-3.4	0.04853	.	1.305430	0.04903	N	0.451599	T	0.26484	0.0647	L	0.57536	1.79	0.09310	N	0.999999	P;B	0.34757	0.467;0.275	B;B	0.38880	0.284;0.105	T	0.44128	-0.9348	10	0.62326	D	0.03	.	5.5265	0.16960	0.2225:0.2315:0.0:0.546	.	961;961	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	P	961;961;836;78	ENSP00000353440:R961P	ENSP00000312942:R836P	R	-	2	0	SEZ6	24307373	0.002000	0.14202	0.010000	0.14722	0.764000	0.43329	-0.016000	0.12613	-0.387000	0.07809	0.491000	0.48974	CGC		0.582	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			4	9	0	0	0	1	0	4	9				
CDH16	1014	broad.mit.edu	37	16	66950296	66950296	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr16:66950296C>T	ENST00000299752.4	-	4	359	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	CDH16_ENST00000565796.1_Missense_Mutation_p.V56M|CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.V56M|CDH16_ENST00000568632.1_Missense_Mutation_p.V56M	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTGACAGCACGATCTGGCCT	0.622																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(166-168)Gtg>Atg		cadherin 16, KSP-cadherin							65.0	56.0	59.0					16																	66950296		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66950296C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.166G>A	16.37:g.66950296C>T	ENSP00000299752:p.Val56Met					CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.V56M|CDH16_ENST00000565796.1_Missense_Mutation_p.V56M|CDH16_ENST00000568632.1_Missense_Mutation_p.V56M	p.V56M	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	4	359	-		Ovarian(137;0.0563)	56			Cadherin 1.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.166G>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	8.892	0.954255	0.18431	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.70631	-0.5;-0.5	4.49	-1.07	0.09968	Cadherin (3);Cadherin-like (1);	0.576230	0.15932	N	0.237606	T	0.60143	0.2246	M	0.63169	1.94	0.09310	N	1	B;B;B	0.23185	0.063;0.037;0.081	B;B;B	0.20955	0.032;0.014;0.015	T	0.51772	-0.8663	10	0.48119	T	0.1	-5.2823	4.8796	0.13672	0.1443:0.4924:0.0:0.3632	.	56;56;56	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	M	56	ENSP00000377619:V56M;ENSP00000299752:V56M	ENSP00000299752:V56M	V	-	1	0	CDH16	65507797	0.000000	0.05858	0.009000	0.14445	0.027000	0.11550	-0.615000	0.05597	-0.226000	0.09899	-0.921000	0.02739	GTG		0.622	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		15	23	0	0	0	1	0	15	23				
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A	rs577915367	byFrequency	TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	69								p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333													.|||	20	0.00399361	0.0083	0.0043	5008	,	,		42456	0.003		0.002	False		,,,				2504	0.001					ENST00000278882.3																			2	Substitution - Missense(2)	p.Q69K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(205-207)Caa>Aaa																																						SO:0001583	missense	0							g.chr20:29625961C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.205C>A	20.37:g.29625961C>A	ENSP00000278882:p.Gln69Lys					FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K	p.Q69K							5	585	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	c	8.933	0.963969	0.18583	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	.	.	.	0.53005	D	0.999964	B	0.06786	0.001	B	0.12837	0.008	T	0.33163	-0.9879	9	0.52906	T	0.07	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	74	F5H5R5	.	K	69;74;69	ENSP00000408863:Q74K	ENSP00000278882:Q69K	Q	+	1	0	FRG1B	28239622	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	104	1	0	3.59834e-05	1	3.68829e-05	4	104				
WISP1	8840	broad.mit.edu	37	8	134225313	134225313	+	Silent	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr8:134225313C>T	ENST00000250160.6	+	2	382	c.276C>T	c.(274-276)atC>atT	p.I92I	WISP1_ENST00000517423.1_Silent_p.I92I|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Silent_p.I92I	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	92	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGGCTGCCATCTGTGACCCCC	0.617																																						ENST00000250160.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(274-276)atC>atT		WNT1 inducible signaling pathway protein 1							58.0	59.0	59.0					8																	134225313		2203	4300	6503	SO:0001819	synonymous_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134225313C>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.276C>T	8.37:g.134225313C>T						WISP1_ENST00000220856.6_Silent_p.I92I|WISP1_ENST00000517423.1_Silent_p.I92I|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron	p.I92I	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		2	382	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		92			IGFBP N-terminal.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	c.276C>T	CCDS6371.1																																																																																				0.617	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		49	75	0	0	0	1	0	49	75				
GJA4	2701	broad.mit.edu	37	1	35260639	35260639	+	Silent	SNP	C	C	A			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr1:35260639C>A	ENST00000342280.4	+	2	913	c.825C>A	c.(823-825)tcC>tcA	p.S275S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	275					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCCTCATCCCCACCATGCC	0.647																																						ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(823-825)tcC>tcA		gap junction protein, alpha 4, 37kDa							48.0	50.0	49.0					1																	35260639		2203	4300	6503	SO:0001819	synonymous_variant	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260639C>A	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.825C>A	1.37:g.35260639C>A							p.S275S	NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN			2	913	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	275					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	ENST00000342280.4	37	c.825C>A	CCDS30669.1	.	.	.	.	.	.	.	.	.	.	C	1.911	-0.450647	0.04572	.	.	ENSG00000187513	ENST00000543143	.	.	.	5.52	2.36	0.29203	.	.	.	.	.	T	0.61602	0.2360	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59069	-0.7523	5	0.41790	T	0.15	.	10.4974	0.44785	0.0:0.6508:0.269:0.0801	.	.	.	.	H	275	.	ENSP00000441206:P275H	P	+	2	0	GJA4	35033226	0.014000	0.17966	0.912000	0.35992	0.454000	0.32378	-0.071000	0.11505	0.671000	0.31185	0.561000	0.74099	CCC		0.647	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		3	17	1	0	6.4e-05	1	6.4e-05	3	17				
NIPBL	25836	broad.mit.edu	37	5	37022199	37022199	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr5:37022199C>A	ENST00000282516.8	+	28	5874	c.5375C>A	c.(5374-5376)gCc>gAc	p.A1792D	NIPBL_ENST00000448238.2_Missense_Mutation_p.A1792D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1792					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CGAACAAAAGCCATGAAGTGT	0.343																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(5374-5376)gCc>gAc		Nipped-B homolog (Drosophila)							128.0	118.0	121.0					5																	37022199		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37022199C>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5375C>A	5.37:g.37022199C>A	ENSP00000282516:p.Ala1792Asp					NIPBL_ENST00000448238.2_Missense_Mutation_p.A1792D	p.A1792D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		28	5874	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1792					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.5375C>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972063	0.92919	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.77877	-1.13;-1.13	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87997	0.6319	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88943	0.3381	10	0.87932	D	0	.	19.1811	0.93623	0.0:1.0:0.0:0.0	.	1792;1792	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	D	1792	ENSP00000282516:A1792D;ENSP00000406266:A1792D	ENSP00000282516:A1792D	A	+	2	0	NIPBL	37057956	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.418000	0.80167	2.592000	0.87571	0.650000	0.86243	GCC		0.343	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		13	35	1	0	6.31663e-08	1	6.81531e-08	13	35				
HPCAL4	51440	broad.mit.edu	37	1	40148368	40148368	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr1:40148368C>T	ENST00000372844.3	-	4	807	c.416G>A	c.(415-417)cGc>cAc	p.R139H		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	139					central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGGTTCATGCGCATCATGAT	0.567																																						ENST00000372844.3																			0				breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8						c.(415-417)cGc>cAc		hippocalcin like 4							110.0	94.0	99.0					1																	40148368		2203	4300	6503	SO:0001583	missense	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40148368C>T	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.416G>A	1.37:g.40148368C>T	ENSP00000361935:p.Arg139His						p.R139H	NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	807	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	139					B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	ENST00000372844.3	37	c.416G>A	CCDS441.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290844	0.80914	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.67171	-0.25	4.54	4.54	0.55810	EF-hand-like domain (1);	0.075709	0.53938	D	0.000043	T	0.65678	0.2714	L	0.28054	0.825	0.52501	D	0.999952	D;P	0.55385	0.971;0.889	P;P	0.54759	0.76;0.631	T	0.69676	-0.5081	10	0.66056	D	0.02	.	13.8771	0.63660	0.0:0.8467:0.1533:0.0	.	67;139	B4DGW9;Q9UM19	.;HPCL4_HUMAN	H	139;131	ENSP00000361935:R139H	ENSP00000361935:R139H	R	-	2	0	HPCAL4	39920955	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.748000	0.68697	2.473000	0.83533	0.313000	0.20887	CGC		0.567	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	NM_016257		3	49	0	0	0	1	0	3	49				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	195	0	0	0	1	0	5	195				
TNS1	7145	broad.mit.edu	37	2	218712917	218712917	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:218712917A>G	ENST00000171887.4	-	17	2400	c.1948T>C	c.(1948-1950)Tgg>Cgg	p.W650R	TNS1_ENST00000419504.1_Missense_Mutation_p.W650R|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_Missense_Mutation_p.W650R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	650					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		tgctgctgcCACGAATTCAGT	0.642																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1948-1950)Tgg>Cgg		tensin 1							15.0	16.0	16.0					2																	218712917		2194	4291	6485	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712917A>G	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1948T>C	2.37:g.218712917A>G	ENSP00000171887:p.Trp650Arg					TNS1_ENST00000419504.1_Missense_Mutation_p.W650R|TNS1_ENST00000430930.1_Missense_Mutation_p.W650R	p.W650R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2400	-		Renal(207;0.0483)|Lung NSC(271;0.213)	650					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1948T>C	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.888009	0.52014	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.32	4.64	4.64	0.57946	.	0.433319	0.26535	N	0.023827	D	0.98403	0.9469	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D	0.89917	0.959;0.989;1.0;0.959;0.959	B;D;D;B;B	0.91635	0.425;0.92;0.999;0.425;0.425	D	0.98683	1.0693	10	0.45353	T	0.12	.	14.2138	0.65781	1.0:0.0:0.0:0.0	.	650;704;650;650;650	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	R	650;650;650;775	ENSP00000171887:W650R;ENSP00000408724:W650R;ENSP00000406016:W650R;ENSP00000405460:W775R	ENSP00000171887:W650R	W	-	1	0	TNS1	218421162	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.663000	0.61532	1.952000	0.56665	0.459000	0.35465	TGG		0.642	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		3	22	0	0	0	1	0	3	22				
CD209	30835	broad.mit.edu	37	19	7809893	7809893	+	Silent	SNP	G	G	A	rs61742035		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr19:7809893G>A	ENST00000315599.7	-	5	856	c.834C>T	c.(832-834)caC>caT	p.H278H	CD209_ENST00000204801.8_Silent_p.H234H|CD209_ENST00000394173.4_Silent_p.H117H|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Silent_p.H278H|CD209_ENST00000301357.8_Silent_p.H142H|CD209_ENST00000593821.1_Silent_p.H142H|CD209_ENST00000593660.1_Silent_p.H208H|CD209_ENST00000602261.1_Silent_p.H186H|CD209_ENST00000601951.1_Silent_p.H254H|CD209_ENST00000601256.1_Silent_p.H254H|CD209_ENST00000315591.8_Silent_p.H254H	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	278	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						TGATGGAGTCGTGCCAGTTCC	0.587																																						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.(832-834)caC>caT		CD209 molecule							94.0	88.0	90.0					19																	7809893		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:7809893G>A	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.834C>T	19.37:g.7809893G>A						CD209_ENST00000394173.4_Silent_p.H117H|CD209_ENST00000602261.1_Silent_p.H186H|CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Silent_p.H208H|CD209_ENST00000593821.1_Silent_p.H142H|CD209_ENST00000301357.8_Silent_p.H142H|CD209_ENST00000601256.1_Silent_p.H254H|CD209_ENST00000315591.8_Silent_p.H254H|CD209_ENST00000601951.1_Silent_p.H254H|CD209_ENST00000354397.6_Silent_p.H278H|CD209_ENST00000204801.8_Silent_p.H234H	p.H278H	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			5	856	-			278			C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.834C>T	CCDS12186.1																																																																																				0.587	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		45	60	0	0	0	1	0	45	60				
POF1B	79983	broad.mit.edu	37	X	84586012	84586012	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:84586012C>T	ENST00000262753.4	-	7	942	c.797G>A	c.(796-798)cGt>cAt	p.R266H	POF1B_ENST00000373145.3_Missense_Mutation_p.R266H	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	266						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CGTATTCTTACGGCTCAGATC	0.383																																						ENST00000262753.4																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(796-798)cGt>cAt		premature ovarian failure, 1B							108.0	91.0	97.0					X																	84586012		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84586012C>T	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.797G>A	X.37:g.84586012C>T	ENSP00000262753:p.Arg266His					POF1B_ENST00000373145.3_Missense_Mutation_p.R266H	p.R266H	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN			7	942	-			266					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.797G>A	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365477	0.61513	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.26067	1.76;1.76	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	L	0.58101	1.795	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.41680	-0.9495	10	0.54805	T	0.06	-0.0188	16.0996	0.81163	0.0:1.0:0.0:0.0	.	266;266	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	H	266	ENSP00000262753:R266H;ENSP00000362238:R266H	ENSP00000262753:R266H	R	-	2	0	POF1B	84472668	1.000000	0.71417	0.845000	0.33349	0.209000	0.24338	4.530000	0.60595	2.404000	0.81709	0.600000	0.82982	CGT		0.383	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		26	5	0	0	0	1	0	26	5				
FUT7	2529	broad.mit.edu	37	9	139925576	139925576	+	Silent	SNP	G	G	A			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr9:139925576G>A	ENST00000314412.6	-	2	1633	c.615C>T	c.(613-615)gcC>gcT	p.A205A	ABCA2_ENST00000371605.3_5'Flank|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000265662.5_5'Flank|ABCA2_ENST00000341511.6_5'Flank|C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	205					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|leukocyte migration involved in immune response (GO:0002522)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GCCGTCCATTGGCACGGCCAA	0.647																																						ENST00000314412.6																			0				NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8						c.(613-615)gcC>gcT		fucosyltransferase 7 (alpha (1,3) fucosyltransferase)							61.0	74.0	70.0					9																	139925576		2198	4290	6488	SO:0001819	synonymous_variant	2529				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr9:139925576G>A	X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549		"""Fucosyltransferases"""	4018	protein-coding gene	gene with protein product		602030				8207002, 8182079	Standard	NM_004479		Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.615C>T	9.37:g.139925576G>A						C9orf139_ENST00000314330.2_Intron	p.A205A	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	1633	-	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	205					B2R7U7|Q6DK54	Silent	SNP	ENST00000314412.6	37	c.615C>T	CCDS7022.1																																																																																				0.647	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055220.1	NM_004479		6	297	0	0	0	1	0	6	297				
VPS13C	54832	broad.mit.edu	37	15	62214622	62214622	+	Missense_Mutation	SNP	C	C	A	rs115472982		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:62214622C>A	ENST00000261517.5	-	54	7022	c.6949G>T	c.(6949-6951)Gct>Tct	p.A2317S	VPS13C_ENST00000249837.3_Missense_Mutation_p.A2274S|VPS13C_ENST00000395898.3_Missense_Mutation_p.A2274S|VPS13C_ENST00000395896.4_Missense_Mutation_p.A2317S	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAACAGCAGCCATTAGAGAA	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		17300	0.001		0.0	False		,,,				2504	0.0					ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(6949-6951)Gct>Tct		vacuolar protein sorting 13 homolog C (S. cerevisiae)							88.0	90.0	90.0					15																	62214622		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62214622C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6949G>T	15.37:g.62214622C>A	ENSP00000261517:p.Ala2317Ser					VPS13C_ENST00000395898.3_Missense_Mutation_p.A2274S|VPS13C_ENST00000395896.4_Missense_Mutation_p.A2317S|VPS13C_ENST00000249837.3_Missense_Mutation_p.A2274S	p.A2317S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			54	7022	-			2317						Missense_Mutation	SNP	ENST00000261517.5	37	c.6949G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	5.868	0.344325	0.11126	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.13657	2.57;2.57;2.57	5.31	2.44	0.29823	.	0.830491	0.11612	N	0.546663	T	0.09818	0.0241	L	0.41236	1.265	0.19575	N	0.999963	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.001;0.002	T	0.42999	-0.9418	10	0.06099	T	0.92	.	8.8193	0.35016	0.0:0.7126:0.0:0.2874	.	2274;2317;2274;2317	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	S	2274;2317;2317;2317	ENSP00000249837:A2274S;ENSP00000261517:A2317S;ENSP00000379233:A2317S	ENSP00000249837:A2274S	A	-	1	0	VPS13C	60001914	0.856000	0.29760	0.677000	0.29947	0.344000	0.29017	0.896000	0.28377	0.334000	0.23590	0.650000	0.86243	GCT		0.378	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		17	89	1	0	3.41278e-10	1	3.78173e-10	17	89				
NOTCH1	4851	broad.mit.edu	37	9	139412278	139412278	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr9:139412278C>T	ENST00000277541.6	-	8	1442	c.1367G>A	c.(1366-1368)tGc>tAc	p.C456Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	456	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTCGAGACGCACTCGTTGAC	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1366-1368)tGc>tAc		notch 1							57.0	64.0	62.0					9																	139412278		2179	4262	6441	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412278C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1367G>A	9.37:g.139412278C>T	ENSP00000277541:p.Cys456Tyr	HNSCC(8;0.001)					p.C456Y	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1442	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	456			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1367G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305986	0.81247	.	.	ENSG00000148400	ENST00000277541	D	0.99445	-5.91	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.99924	4.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96191	0.9138	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	456	P46531	NOTC1_HUMAN	Y	456	ENSP00000277541:C456Y	ENSP00000277541:C456Y	C	-	2	0	NOTCH1	138532099	1.000000	0.71417	0.966000	0.40874	0.731000	0.41821	7.584000	0.82572	2.088000	0.63022	0.462000	0.41574	TGC		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		67	37	0	0	0	1	0	67	37				
C3	718	broad.mit.edu	37	19	6707823	6707823	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr19:6707823C>T	ENST00000245907.6	-	15	2055	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	655					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GCCCTCTGGGCGGTCTGCTGG	0.672																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(1963-1965)Gcc>Acc		complement component 3							54.0	56.0	55.0					19																	6707823		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6707823C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1963G>A	19.37:g.6707823C>T	ENSP00000245907:p.Ala655Thr						p.A655T	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	15	2055	-			655					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1963G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	6.706	0.498938	0.12762	.	.	ENSG00000125730	ENST00000245907	T	0.32988	1.43	4.83	0.00112	0.14045	.	4.680170	0.00465	N	0.000108	T	0.20941	0.0504	L	0.33189	0.99	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.07028	-1.0794	10	0.13108	T	0.6	.	2.9279	0.05789	0.1312:0.4374:0.2765:0.1549	.	655	P01024	CO3_HUMAN	T	655	ENSP00000245907:A655T	ENSP00000245907:A655T	A	-	1	0	C3	6658823	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.806000	0.00758	-0.132000	0.11557	-0.241000	0.12123	GCC		0.672	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		73	82	0	0	0	1	0	73	82				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	25	0	0	0	1	0	4	25				
COL4A5	1287	broad.mit.edu	37	X	107823773	107823773	+	Missense_Mutation	SNP	G	G	T	rs104886070		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:107823773G>T	ENST00000361603.2	+	14	1035	c.791G>T	c.(790-792)gGt>gTt	p.G264V	COL4A5_ENST00000328300.6_Missense_Mutation_p.G264V	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	264	Triple-helical region.		G -> R (in APSX; adult type).		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGACTTCCTGGTGACCGAGGG	0.428									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99	GRCh37	CM052207	COL4A5	M	rs104886070	c.(790-792)gGt>gTt		collagen, type IV, alpha 5							137.0	120.0	126.0					X																	107823773		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107823773G>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.791G>T	X.37:g.107823773G>T	ENSP00000354505:p.Gly264Val					COL4A5_ENST00000361603.2_Missense_Mutation_p.G264V	p.G264V	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			14	1035	+			264		G -> R (in APSX; adult type).	Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.791G>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733671	0.69189	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.97941	-4.62;-4.62	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98844	1.0756	10	0.87932	D	0	.	18.7695	0.91885	0.0:0.0:1.0:0.0	.	264;264	E7EVY4;P29400	.;CO4A5_HUMAN	V	264	ENSP00000331902:G264V;ENSP00000354505:G264V	ENSP00000331902:G264V	G	+	2	0	COL4A5	107710429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.581000	0.82535	2.377000	0.81083	0.600000	0.82982	GGT		0.428	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			64	5	1	0	5.61366e-43	1	6.76941e-43	64	5				
SMCO3	440087	broad.mit.edu	37	12	14959571	14959571	+	Missense_Mutation	SNP	C	C	T	rs201197590		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr12:14959571C>T	ENST00000316048.2	-	2	116	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2	A2RU48	SMCO3_HUMAN	single-pass membrane protein with coiled-coil domains 3	15						integral component of membrane (GO:0016021)		p.R15L(1)									TACTTCTTCCCGCCTTTTTGG	0.393																																						ENST00000316048.2																			1	Substitution - Missense(1)	p.R15L(1)	lung(1)								c.(43-45)cGg>cAg		single-pass membrane protein with coiled-coil domains 3																																				SO:0001583	missense	440087							g.chr12:14959571C>T		CCDS41759.1	12p12.3	2013-03-11	2013-03-11	2013-03-11	ENSG00000179256	ENSG00000179256			34401	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 69"""	C12orf69			Standard	NM_001013698		Approved	LOC440087	uc001rck.1	A2RU48	OTTHUMG00000167474	ENST00000316048.2:c.44G>A	12.37:g.14959571C>T	ENSP00000381895:p.Arg15Gln					C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	p.R15Q	NM_001013698.2	NP_001013720.2					2	116	-								Q8NAI5	Missense_Mutation	SNP	ENST00000316048.2	37	c.44G>A	CCDS41759.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528449	0.85706	.	.	ENSG00000179256	ENST00000316048	T	0.18174	2.23	5.25	5.25	0.73442	.	0.000000	0.35903	U	0.002908	T	0.27866	0.0686	N	0.24115	0.695	0.29829	N	0.830155	D	0.71674	0.998	D	0.75484	0.986	T	0.03662	-1.1015	10	0.66056	D	0.02	-2.6764	14.2019	0.65710	0.0:1.0:0.0:0.0	.	15	A2RU48	CL069_HUMAN	Q	15	ENSP00000381895:R15Q	ENSP00000381895:R15Q	R	-	2	0	C12orf69	14850838	0.997000	0.39634	0.999000	0.59377	0.978000	0.69477	3.433000	0.52834	2.722000	0.93159	0.555000	0.69702	CGG		0.393	SMCO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394738.1	NM_001013698		61	75	0	0	0	1	0	61	75				
USP3	9960	broad.mit.edu	37	15	63855167	63855167	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:63855167T>C	ENST00000380324.3	+	8	850	c.721T>C	c.(721-723)Tcc>Ccc	p.S241P	USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000268049.7_Missense_Mutation_p.S219P|USP3_ENST00000539772.1_5'UTR|USP3_ENST00000540797.1_Missense_Mutation_p.S197P|USP3_ENST00000558285.1_Missense_Mutation_p.S224P|USP3_ENST00000559711.1_Missense_Mutation_p.S152P|USP3-AS1_ENST00000559357.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	241	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TAGCCCAGAGTCCTTATTTTA	0.358																																						ENST00000268049.7																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(655-657)Tcc>Ccc		ubiquitin specific peptidase 3							145.0	146.0	146.0					15																	63855167		2203	4300	6503	SO:0001583	missense	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63855167T>C	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.721T>C	15.37:g.63855167T>C	ENSP00000369681:p.Ser241Pro					USP3_ENST00000559711.1_Missense_Mutation_p.S152P|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.S224P|USP3_ENST00000539772.1_5'UTR|USP3_ENST00000540797.1_Missense_Mutation_p.S197P|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000380324.3_Missense_Mutation_p.S241P	p.S219P			Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	9	979	+			241					B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	c.655T>C	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.035584	0.54896	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000536848;ENST00000538686	T;T;T	0.31247	1.5;1.5;1.5	6.07	4.96	0.65561	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.047223	0.85682	D	0.000000	T	0.23532	0.0569	L	0.35542	1.07	0.80722	D	1	B;P;P;B	0.35468	0.447;0.503;0.503;0.362	B;B;B;B	0.32980	0.097;0.156;0.156;0.156	T	0.02676	-1.1125	10	0.39692	T	0.17	.	12.1441	0.54014	0.0:0.0664:0.0:0.9336	.	197;197;219;241	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	P	197;241;219;156;72	ENSP00000445828:S197P;ENSP00000369681:S241P;ENSP00000268049:S219P	ENSP00000268049:S219P	S	+	1	0	USP3	61642220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.093000	0.71422	1.121000	0.41925	0.533000	0.62120	TCC		0.358	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			4	119	0	0	0	1	0	4	119				
HERC1	8925	broad.mit.edu	37	15	63966612	63966612	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:63966612G>A	ENST00000443617.2	-	38	7862	c.7775C>T	c.(7774-7776)gCg>gTg	p.A2592V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2592					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CATGGCTTGCGCTCGTTCCAG	0.448																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(7774-7776)gCg>gTg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							50.0	50.0	50.0					15																	63966612		1925	4139	6064	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63966612G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7775C>T	15.37:g.63966612G>A	ENSP00000390158:p.Ala2592Val						p.A2592V	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			38	7862	-			2592					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.7775C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957347	0.92726	.	.	ENSG00000103657	ENST00000443617	T	0.50548	0.74	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	N	0.20986	0.625	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.55872	-0.8072	10	0.41790	T	0.15	.	20.1991	0.98252	0.0:0.0:1.0:0.0	.	2592	Q15751	HERC1_HUMAN	V	2592	ENSP00000390158:A2592V	ENSP00000390158:A2592V	A	-	2	0	HERC1	61753665	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	9.869000	0.99810	2.775000	0.95449	0.650000	0.86243	GCG		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		17	50	0	0	0	1	0	17	50				
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			51	56	0	0	0	1	0	51	56				
RNF213	57674	broad.mit.edu	37	17	78319360	78319360	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr17:78319360C>T	ENST00000582970.1	+	29	7368	c.7225C>T	c.(7225-7227)Cgg>Tgg	p.R2409W	RNF213_ENST00000336301.6_Missense_Mutation_p.R482W|RNF213_ENST00000508628.2_Missense_Mutation_p.R2458W	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2409					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CATCGAGATGCGGTTCCGGTG	0.537																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(7225-7227)Cgg>Tgg		ring finger protein 213							81.0	79.0	80.0					17																	78319360		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78319360C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7225C>T	17.37:g.78319360C>T	ENSP00000464087:p.Arg2409Trp					RNF213_ENST00000336301.6_Missense_Mutation_p.R482W|RNF213_ENST00000508628.2_Missense_Mutation_p.R2458W	p.R2409W	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	7368	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.7225C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	7.341	0.620810	0.14193	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.46451	0.87	5.12	2.97	0.34412	.	0.000000	0.64402	D	0.000001	T	0.67135	0.2861	M	0.87682	2.9	0.37117	D	0.900629	D	0.89917	1.0	D	0.91635	0.999	T	0.78775	-0.2072	10	0.87932	D	0	.	13.6507	0.62310	0.378:0.6219:0.0:0.0	.	482	Q63HN8	RN213_HUMAN	W	2409;2458;482	ENSP00000338218:R482W	ENSP00000338218:R482W	R	+	1	2	RNF213	75933955	1.000000	0.71417	0.997000	0.53966	0.103000	0.19146	1.244000	0.32778	1.500000	0.48636	-0.182000	0.12963	CGG		0.537	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		4	119	0	0	0	1	0	4	119				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	108	0	0	0	1	0	4	108				
SIM1	6492	broad.mit.edu	37	6	100868815	100868815	+	Silent	SNP	G	G	A			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr6:100868815G>A	ENST00000369208.3	-	10	1800	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	SIM1_ENST00000262901.4_Silent_p.L340L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	340	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GAGAGCTGCAGCCCTTTGTAT	0.507																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1018-1020)Ctg>Ttg		single-minded family bHLH transcription factor 1							89.0	81.0	84.0					6																	100868815		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100868815G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1018C>T	6.37:g.100868815G>A						SIM1_ENST00000262901.4_Silent_p.L340L	p.L340L			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	1800	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	340			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1018C>T	CCDS5045.1																																																																																				0.507	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		11	22	0	0	0	1	0	11	22				
EML4	27436	broad.mit.edu	37	2	42553330	42553330	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:42553330G>T	ENST00000318522.5	+	21	2541	c.2279G>T	c.(2278-2280)cGa>cTa	p.R760L	EML4_ENST00000402711.2_Missense_Mutation_p.R702L|EML4_ENST00000453191.2_Missense_Mutation_p.R24L|EML4_ENST00000401738.3_Missense_Mutation_p.R771L	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	760					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATCAGGAATCGATCGGATTGT	0.368			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2278-2280)cGa>cTa		echinoderm microtubule associated protein like 4							154.0	146.0	149.0					2																	42553330		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42553330G>T	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2279G>T	2.37:g.42553330G>T	ENSP00000320663:p.Arg760Leu					EML4_ENST00000401738.3_Missense_Mutation_p.R771L|EML4_ENST00000453191.2_Missense_Mutation_p.R24L|EML4_ENST00000402711.2_Missense_Mutation_p.R702L	p.R760L	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			21	2541	+			760					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.2279G>T	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566208	0.65651	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;T;T	0.65364	1.07;1.91;1.12;-0.15	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.055189	0.85682	D	0.000000	T	0.69735	0.3144	L	0.43152	1.355	0.80722	D	1	D;B;B;D	0.61080	0.989;0.014;0.269;0.989	P;B;B;P	0.58210	0.835;0.017;0.093;0.835	T	0.63888	-0.6535	10	0.29301	T	0.29	-10.894	19.5755	0.95441	0.0:0.0:1.0:0.0	.	702;702;771;760	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	L	760;702;771;24	ENSP00000320663:R760L;ENSP00000385059:R702L;ENSP00000384939:R771L;ENSP00000400590:R24L	ENSP00000320663:R760L	R	+	2	0	EML4	42406834	1.000000	0.71417	0.976000	0.42696	0.923000	0.55619	9.529000	0.98049	2.865000	0.98341	0.655000	0.94253	CGA		0.368	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		26	118	1	0	1.13719e-10	1	1.29513e-10	26	118				
ANKIB1	54467	broad.mit.edu	37	7	91981897	91981897	+	Silent	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr7:91981897C>T	ENST00000265742.3	+	9	1714	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	446							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGATACACTCAGCTTCCCAT	0.433																																						ENST00000265742.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(1336-1338)ctC>ctT		ankyrin repeat and IBR domain containing 1							266.0	252.0	257.0					7																	91981897		1919	4136	6055	SO:0001819	synonymous_variant	54467						protein binding|zinc ion binding	g.chr7:91981897C>T	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1338C>T	7.37:g.91981897C>T							p.L446L	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	1714	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		446					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Silent	SNP	ENST00000265742.3	37	c.1338C>T	CCDS47639.1																																																																																				0.433	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			147	166	0	0	0	1	0	147	166				
STX11	8676	broad.mit.edu	37	6	144508431	144508431	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr6:144508431G>A	ENST00000367568.4	+	2	850	c.667G>A	c.(667-669)Gac>Aac	p.D223N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	223	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CCGCATCCGCGACGTACACGA	0.632									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(667-669)Gac>Aac		syntaxin 11							46.0	44.0	44.0					6																	144508431		2202	4300	6502	SO:0001583	missense	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508431G>A	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.667G>A	6.37:g.144508431G>A	ENSP00000356540:p.Asp223Asn						p.D223N	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	850	+			223			t-SNARE coiled-coil homology.		E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.667G>A	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437965	0.96168	.	.	ENSG00000135604	ENST00000367568	T	0.28069	1.63	5.45	5.45	0.79879	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.222122	0.46758	D	0.000262	T	0.51160	0.1658	M	0.85777	2.775	0.58432	D	0.999999	D	0.63046	0.992	P	0.61070	0.883	T	0.55573	-0.8120	10	0.49607	T	0.09	-21.8087	18.91	0.92479	0.0:0.0:1.0:0.0	.	223	O75558	STX11_HUMAN	N	223	ENSP00000356540:D223N	ENSP00000356540:D223N	D	+	1	0	STX11	144550124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.799000	0.99117	2.555000	0.86185	0.655000	0.94253	GAC		0.632	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			6	72	0	0	0	1	0	6	72				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	98	0	0	0	1	0	4	98				
MATN2	4147	broad.mit.edu	37	8	99045826	99045826	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr8:99045826T>G	ENST00000520016.1	+	17	2878	c.2754T>G	c.(2752-2754)tgT>tgG	p.C918W	MATN2_ENST00000521689.1_Missense_Mutation_p.C899W|MATN2_ENST00000254898.5_Missense_Mutation_p.C918W|MATN2_ENST00000524308.1_Missense_Mutation_p.C877W|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000522025.2_Missense_Mutation_p.C634W			O00339	MATN2_HUMAN	matrilin 2	918						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AATGCAAATGTGAAAACCTTA	0.388																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(2752-2754)tgT>tgG		matrilin 2							87.0	80.0	82.0					8																	99045826		1848	4097	5945	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99045826T>G	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.2754T>G	8.37:g.99045826T>G	ENSP00000430487:p.Cys918Trp					MATN2_ENST00000520016.1_Missense_Mutation_p.C918W|MATN2_ENST00000521689.1_Missense_Mutation_p.C899W|MATN2_ENST00000522025.2_Missense_Mutation_p.C634W|MATN2_ENST00000524308.1_Missense_Mutation_p.C877W|RPL30_ENST00000518164.1_Intron	p.C918W	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		18	2985	+	Breast(36;1.43e-06)		918					A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.2754T>G	CCDS55264.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	19.91|19.91|19.91	3.913992|3.913992|3.913992	0.72983|0.72983|0.72983	.|.|.	.|.|.	ENSG00000132561|ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000519582;ENST00000522135|ENST00000518154	D;D;D;D;D|.|.	0.92647|.|.	-3.08;-3.08;-3.08;-3.08;-3.08|.|.	5.73|5.73|5.73	4.57|4.57|4.57	0.56435|0.56435|0.56435	Matrilin, coiled-coil trimerisation domain (2);|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000001|.|.	T|T|.	0.64832|0.64832|.	0.2634|0.2634|.	M|M|M	0.68317|0.68317|0.68317	2.08|2.08|2.08	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0|.|.	D;D;D;D|.|.	0.97110|.|.	0.999;1.0;0.999;0.999|.|.	T|T|.	0.63216|0.63216|.	-0.6687|-0.6687|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	-13.3023|-13.3023|-13.3023	10.3733|10.3733|10.3733	0.44066|0.44066|0.44066	0.0:0.0739:0.0:0.9261|0.0:0.0739:0.0:0.9261|0.0:0.0739:0.0:0.9261	.|.|.	877;899;899;918|.|.	C9JH87;E9PF03;O00339-2;O00339|.|.	.;.;.;MATN2_HUMAN|.|.	W|G|G	899;918;877;877;634;918|155;81|682	ENSP00000429977:C899W;ENSP00000254898:C918W;ENSP00000430221:C877W;ENSP00000429010:C634W;ENSP00000430487:C918W|.|.	ENSP00000254898:C918W|.|.	C|V|X	+|+|+	3|2|1	2|0|0	MATN2|MATN2|MATN2	99115002|99115002|99115002	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	5.797000|5.797000|5.797000	0.69087|0.69087|0.69087	1.108000|1.108000|1.108000	0.41662|0.41662|0.41662	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TGT|GTG|TGA		0.388	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			8	9	0	0	0	1	0	8	9				
LRP2	4036	broad.mit.edu	37	2	170112638	170112638	+	Silent	SNP	C	C	T	rs570664576		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:170112638C>T	ENST00000263816.3	-	19	3033	c.2748G>A	c.(2746-2748)ccG>ccA	p.P916P	LRP2_ENST00000443831.1_Silent_p.P779P	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	916					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAAGTCCAAACGGATGTGTCA	0.373																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(2746-2748)ccG>ccA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						105.0	99.0	101.0					2																	170112638		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170112638C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2748G>A	2.37:g.170112638C>T						LRP2_ENST00000443831.1_Silent_p.P779P	p.P916P	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	19	3033	-			916					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.2748G>A	CCDS2232.1																																																																																				0.373	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		6	51	0	0	0	1	0	6	51				
CDK5RAP2	55755	broad.mit.edu	37	9	123342218	123342218	+	Silent	SNP	A	A	G			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr9:123342218A>G	ENST00000349780.4	-	1	218	c.39T>C	c.(37-39)ccT>ccC	p.P13P	CDK5RAP2_ENST00000360822.3_Silent_p.P13P|CDK5RAP2_ENST00000359309.3_Silent_p.P13P|CDK5RAP2_ENST00000360190.4_Silent_p.P13P	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	13					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGAGCGTCCCAGGGACGGTGA	0.662																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(37-39)ccT>ccC		CDK5 regulatory subunit associated protein 2							43.0	35.0	38.0					9																	123342218		2203	4300	6503	SO:0001819	synonymous_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123342218A>G	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.39T>C	9.37:g.123342218A>G						CDK5RAP2_ENST00000360190.4_Silent_p.P13P|CDK5RAP2_ENST00000360822.3_Silent_p.P13P|CDK5RAP2_ENST00000359309.3_Silent_p.P13P	p.P13P	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			1	218	-			13					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	c.39T>C	CCDS6823.1																																																																																				0.662	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		16	46	0	0	0	1	0	16	46				
MUC5B	727897	broad.mit.edu	37	11	1270406	1270406	+	Missense_Mutation	SNP	C	C	T	rs367864174		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr11:1270406C>T	ENST00000529681.1	+	31	12354	c.12296C>T	c.(12295-12297)aCg>aTg	p.T4099M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4102M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4099	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACGGCCACGGCCACACCC	0.701																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(12304-12306)aCg>aTg		mucin 5B, oligomeric mucus/gel-forming		C	MET/THR	2,4156		1,0,2078	61.0	92.0	82.0		12296	-0.4	0.0	11		82	2,8374		0,2,4186	no	missense	MUC5B	NM_002458.2	81	1,2,6264	TT,TC,CC		0.0239,0.0481,0.0319	probably-damaging	4099/5763	1270406	4,12530	2079	4188	6267	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1270406C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12296C>T	11.37:g.1270406C>T	ENSP00000436812:p.Thr4099Met					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T4099M	p.T4102M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	12363	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4099			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.12305C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	N	4.887	0.164937	0.09287	4.81E-4	2.39E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18338	2.22;2.41	1.92	-0.397	0.12423	.	.	.	.	.	T	0.24774	0.0601	L	0.48642	1.525	0.09310	N	1	D;D	0.76494	0.998;0.999	P;P	0.58928	0.801;0.848	T	0.12889	-1.0530	9	0.87932	D	0	.	6.1352	0.20227	0.0:0.6878:0.19:0.1221	.	4572;4102	A7Y9J9;E9PBJ0	.;.	M	4099;4102;4043;3949	ENSP00000436812:T4099M;ENSP00000415793:T4102M	ENSP00000343037:T4043M	T	+	2	0	MUC5B	1226982	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.168000	0.09925	-0.280000	0.09154	0.400000	0.26472	ACG		0.701	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		100	102	0	0	0	1	0	100	102				
FGD5	152273	broad.mit.edu	37	3	14922122	14922122	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr3:14922122T>C	ENST00000285046.5	+	3	2812	c.2702T>C	c.(2701-2703)cTa>cCa	p.L901P	FGD5_ENST00000543601.1_Missense_Mutation_p.L660P	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	901	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGAACTGCTATCTTCAGAG	0.532																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2701-2703)cTa>cCa		FYVE, RhoGEF and PH domain containing 5							83.0	83.0	83.0					3																	14922122		2064	4194	6258	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14922122T>C	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2702T>C	3.37:g.14922122T>C	ENSP00000285046:p.Leu901Pro					FGD5_ENST00000543601.1_Missense_Mutation_p.L660P	p.L901P	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			3	2812	+			901			DH.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.2702T>C	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336930	0.60963	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.67523	-0.27;-0.27	4.99	4.99	0.66335	Dbl homology (DH) domain (5);	0.541387	0.15247	N	0.272535	T	0.69333	0.3099	M	0.68593	2.085	0.80722	D	1	P;P	0.46578	0.88;0.88	P;P	0.45232	0.474;0.474	T	0.73266	-0.4037	10	0.87932	D	0	-15.8917	12.9328	0.58296	0.0:0.0:0.0:1.0	.	660;901	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	P	901;660	ENSP00000285046:L901P;ENSP00000445949:L660P	ENSP00000285046:L901P	L	+	2	0	FGD5	14897126	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.844000	0.62846	1.874000	0.54306	0.260000	0.18958	CTA		0.532	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		34	36	0	0	0	1	0	34	36				
FLG2	388698	broad.mit.edu	37	1	152324087	152324087	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr1:152324087C>T	ENST00000388718.5	-	3	6247	c.6175G>A	c.(6175-6177)Gga>Aga	p.G2059R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2059					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGACTCTCCATGTTGAGAT	0.527																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6175-6177)Gga>Aga		filaggrin family member 2							528.0	471.0	491.0					1																	152324087		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324087C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6175G>A	1.37:g.152324087C>T	ENSP00000373370:p.Gly2059Arg					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G2059R	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6247	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2059					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6175G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474591	0.43942	.	.	ENSG00000143520	ENST00000388718	T	0.13538	2.58	4.71	-0.847	0.10730	.	.	.	.	.	T	0.03053	0.0090	L	0.52011	1.625	0.09310	N	1	B	0.31611	0.331	B	0.25884	0.064	T	0.41698	-0.9494	9	0.27082	T	0.32	.	4.5286	0.11994	0.0:0.4216:0.3114:0.2669	.	2059	Q5D862	FILA2_HUMAN	R	2059	ENSP00000373370:G2059R	ENSP00000373370:G2059R	G	-	1	0	FLG2	150590711	0.000000	0.05858	0.007000	0.13788	0.022000	0.10575	-0.192000	0.09587	0.000000	0.14550	0.644000	0.83932	GGA		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		6	589	0	0	0	1	0	6	589				
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)accatc>atc	p.T23del	PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000481639.1_In_Frame_Del_p.T35del|PHC3_ENST00000497658.1_In_Frame_Del_p.T35del|PHC3_ENST00000495893.2_In_Frame_Del_p.T35del|PHC3_ENST00000467570.1_In_Frame_Del_p.T35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(67-72)atc>a		polyhomeotic homolog 3 (Drosophila)				6,3998		2,2,1998						3.6	1.0			276	21,8059		10,1,4029	no	coding	PHC3	NM_024947.3		12,3,6027	A1A1,A1R,RR		0.2599,0.1499,0.2234				27,12057				SO:0001651	inframe_deletion	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169896635_169896637delTGG		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.68_70delCCA	3.37:g.169896644_169896646delTGG	ENSP00000420271:p.Thr23del					PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del	p.TI23del			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		2	136_138	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		23			Poly-Thr.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	In_Frame_Del	DEL	ENST00000494943.1	37	c.68_70delCCA																																																																																					0.493	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		8	429						8	429	---	---	---	---
PAICS	10606	broad.mit.edu	37	4	57316856	57316857	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr4:57316856_57316857delAG	ENST00000512576.1	+	6	920_921	c.759_760delAG	c.(757-762)gcagagfs	p.E254fs	PAICS_ENST00000399688.3_Frame_Shift_Del_p.E261fs|PAICS_ENST00000514888.1_Frame_Shift_Del_p.E162fs|PAICS_ENST00000264221.2_Frame_Shift_Del_p.E254fs	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	254	SAICAR synthetase.				'de novo' IMP biosynthetic process (GO:0006189)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	AGTGGGTTGCAGAGAGAGTAGA	0.327																																					GBM(53;429 1144 8755 40726)	ENST00000514888.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5						c.(481-486)gcagfs		phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	L-Aspartic Acid(DB00128)																																			SO:0001589	frameshift_variant	10606				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity	g.chr4:57316856_57316857delAG	X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.759_760delAG	4.37:g.57316862_57316863delAG	ENSP00000421096:p.Glu254fs					PAICS_ENST00000264221.2_Frame_Shift_Del_p.AE253fs|PAICS_ENST00000399688.3_Frame_Shift_Del_p.AE260fs|PAICS_ENST00000512576.1_Frame_Shift_Del_p.AE253fs	p.AE161fs			P22234	PUR6_HUMAN			7	998_999	+	Glioma(25;0.08)|all_neural(26;0.101)		253			SAICAR synthetase.		E9PDH9|Q68CQ5	Frame_Shift_Del	DEL	ENST00000512576.1	37	c.483_484delAG	CCDS47061.1																																																																																				0.327	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363136.2	NM_006452		3	5						3	5	---	---	---	---
ZCWPW1	55063	broad.mit.edu	37	7	100014771	100014773	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr7:100014771_100014773delAAG	ENST00000398027.2	-	6	642_644	c.395_397delCTT	c.(394-399)tcttgt>tgt	p.S132del	ZCWPW1_ENST00000360951.4_In_Frame_Del_p.S132del|ZCWPW1_ENST00000490721.1_In_Frame_Del_p.S11del|ZCWPW1_ENST00000324725.6_In_Frame_Del_p.S11del	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	132							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCTGGGCACAAGAAGTCTCTGC	0.419																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(394-399)tgt>t		zinc finger, CW type with PWWP domain 1																																				SO:0001651	inframe_deletion	55063						zinc ion binding	g.chr7:100014771_100014773delAAG	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.395_397delCTT	7.37:g.100014774_100014776delAAG	ENSP00000381109:p.Ser132del					ZCWPW1_ENST00000490721.1_In_Frame_Del_p.SC11del|ZCWPW1_ENST00000324725.6_In_Frame_Del_p.SC11del|ZCWPW1_ENST00000360951.4_In_Frame_Del_p.SC132del	p.SC132del	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			6	642_644	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		132					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	In_Frame_Del	DEL	ENST00000398027.2	37	c.395_397delCTT	CCDS43623.1																																																																																				0.419	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		22	80						22	80	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr7:142562309delG	ENST00000392957.2	+	7	1538	c.751delG	c.(751-753)gggfs	p.G252fs	EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(751-753)ggfs		EPH receptor B6				18,4178		1,16,2081	46.0	59.0	55.0			-4.1	1.0	7		55	39,8155		7,25,4065	no	frameshift	EPHB6	NM_004445.3		8,41,6146	A1A1,A1R,RR		0.476,0.429,0.46			142562309	57,12333	2188	4279	6467	SO:0001589	frameshift_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562309delG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.751delG	7.37:g.142562309delG	ENSP00000376684:p.Gly252fs					EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron	p.G252fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1538	+	Melanoma(164;0.059)		252			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Del	DEL	ENST00000392957.2	37	c.751delG	CCDS5873.2																																																																																				0.682	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			7	251						7	251	---	---	---	---
ZNF503	84858	broad.mit.edu	37	10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-	rs533859340|rs374168185	byFrequency	TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr10:77161101_77161106delCCGCCT	ENST00000372524.4	-	1	558_563	c.72_77delAGGCGG	c.(70-78)ggaggcggc>ggc	p.24_26GGG>G	ZNF503_ENST00000535216.1_In_Frame_Del_p.24_26GGG>G|ZNF503-AS2_ENST00000466942.2_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000425916.3_RNA|ZNF503-AS2_ENST00000486015.1_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	24	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718														484	0.0966454	0.3336	0.0331	5008	,	,		10238	0.0		0.006	False		,,,				2504	0.0143					ENST00000372524.4																			0				lung(4)|ovary(1)|skin(1)	6						c.(70-78)ggc>gg		zinc finger protein 503				455,1781		166,123,829						2.8	0.0		dbSNP_120	4	28,4994		4,20,2487	no	coding	ZNF503	NM_032772.4		170,143,3316	A1A1,A1R,RR		0.5575,20.3488,6.6547				483,6775				SO:0001651	inframe_deletion	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77161101_77161106delCCGCCT	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.72_77delAGGCGG	10.37:g.77161107_77161112delCCGCCT	ENSP00000361602:p.Gly26_Gly27del					ZNF503_ENST00000535216.1_In_Frame_Del_p.GGG24del	p.GGG24del	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN			1	558_563	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		24			Gly-rich.		Q8NAC5|Q96E25|Q96IJ0	In_Frame_Del	DEL	ENST00000372524.4	37	c.72_77delAGGCGG	CCDS7350.1																																																																																				0.718	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		2	4						2	4	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29665752	29665755	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr17:29665752_29665755delACTT	ENST00000358273.4	+	46	7233_7236	c.6850_6853delACTT	c.(6850-6855)acttacfs	p.TY2284fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.TY2263fs|NF1_ENST00000417592.2_Intron|NF1_ENST00000444181.2_Frame_Shift_Del_p.TY77fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2284					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.Y2285fs*5(6)|p.?(3)|p.Y2285fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGACCTGACACTTACAACAGTCA	0.319			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	18	Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(3)	p.0?(8)|p.Y2285fs*5(6)|p.?(3)|p.Y2285fs*16(1)	soft_tissue(8)|central_nervous_system(6)|autonomic_ganglia(2)|lung(1)|haematopoietic_and_lymphoid_tissue(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CD951799|CI972654	NF1	D|I		c.(6850-6855)acfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29665752_29665755delACTT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6850_6853delACTT	17.37:g.29665752_29665755delACTT	ENSP00000351015:p.Thr2284fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.TY2263fs|NF1_ENST00000444181.2_Frame_Shift_Del_p.TY77fs|NF1_ENST00000417592.2_Intron	p.TY2284fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	46	7233_7236	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2284					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.6850_6853delACTT	CCDS42292.1																																																																																				0.319	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		67	19						67	19	---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35902548	35902549	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr17:35902548_35902549delGA	ENST00000339208.6	-	15	2867_2868	c.2727_2728delTC	c.(2725-2730)tctccafs	p.P910fs	SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000585472.1_Frame_Shift_Del_p.P831fs|SYNRG_ENST00000394378.2_Frame_Shift_Del_p.P832fs|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000345615.4_Frame_Shift_Del_p.P832fs|SYNRG_ENST00000346661.4_Frame_Shift_Del_p.P910fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	910					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGACAAATGGAGAGAGTTTTC	0.455																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2725-2730)tccafs		synergin, gamma																																				SO:0001589	frameshift_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35902548_35902549delGA	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2727_2728delTC	17.37:g.35902552_35902553delGA	ENSP00000343610:p.Pro910fs					SYNRG_ENST00000346661.4_Frame_Shift_Del_p.SP909fs|SYNRG_ENST00000585472.1_Frame_Shift_Del_p.SP830fs|SYNRG_ENST00000345615.4_Frame_Shift_Del_p.SP831fs|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000394378.2_Frame_Shift_Del_p.SP831fs	p.SP909fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			15	2867_2868	-			909					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Frame_Shift_Del	DEL	ENST00000339208.6	37	c.2727_2728delTC	CCDS11321.1																																																																																				0.455	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		21	98						21	98	---	---	---	---
MAP3K15	389840	broad.mit.edu	37	X	19380935	19380938	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:19380935_19380938delCTCT	ENST00000338883.4	-	26	3596_3599	c.3597_3600delAGAG	c.(3595-3600)agagagfs	p.RE1199fs	MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.RE634fs|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.RE1031fs	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1199							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GATTCTGGTACTCTCTCTCTTTTT	0.328																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3595-3600)agfs		mitogen-activated protein kinase kinase kinase 15																																				SO:0001589	frameshift_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19380935_19380938delCTCT	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3597_3600delAGAG	X.37:g.19380939_19380942delCTCT	ENSP00000345629:p.Arg1199fs					MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.RE634fs|MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.RE1031fs|MAP3K15_ENST00000518578.1_5'UTR	p.RE1199fs	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			26	3596_3599	-	Hepatocellular(33;0.183)		1199					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Frame_Shift_Del	DEL	ENST00000338883.4	37	c.3597_3600delAGAG																																																																																					0.328	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		26	58						26	58	---	---	---	---
