#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
HOXA3	3200	broad.mit.edu	37	7	27148069	27148069	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:27148069C>T	ENST00000396352.4	-	3	996	c.797G>A	c.(796-798)cGc>cAc	p.R266H	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.R266H|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	266					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CACGGGGCTGCGACTTGGAGA	0.602																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(796-798)cGc>cAc		homeobox A3							116.0	113.0	114.0					7																	27148069		2203	4300	6503	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148069C>T		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.797G>A	7.37:g.27148069C>T	ENSP00000379640:p.Arg266His					HOXA3_ENST00000317201.2_Missense_Mutation_p.R266H|HOXA-AS2_ENST00000518088.1_RNA	p.R266H	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	996	-			266					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.797G>A	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964113	0.53507	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.87256	-2.23;-2.23	5.56	5.56	0.83823	.	0.053164	0.64402	D	0.000001	D	0.84097	0.5397	L	0.52206	1.635	0.53688	D	0.999979	P	0.38300	0.626	B	0.32022	0.139	D	0.84641	0.0695	10	0.49607	T	0.09	.	19.5376	0.95260	0.0:1.0:0.0:0.0	.	266	O43365	HXA3_HUMAN	H	266;266;108	ENSP00000379640:R266H;ENSP00000324884:R266H	ENSP00000324884:R266H	R	-	2	0	HOXA3	27114594	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.592000	0.53993	2.620000	0.88729	0.655000	0.94253	CGC		0.602	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			80	633	0	0	0	1	0	80	633				
TNXB	7148	broad.mit.edu	37	6	32046935	32046935	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:32046935C>T	ENST00000375244.3	-	11	4451	c.4250G>A	c.(4249-4251)cGt>cAt	p.R1417H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1504	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCAACACGCACCGCCCG	0.662																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4249-4251)cGt>cAt		tenascin XB							105.0	120.0	115.0					6																	32046935		1305	2558	3863	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32046935C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4250G>A	6.37:g.32046935C>T	ENSP00000364393:p.Arg1417His					TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H	p.R1417H			P22105	TENX_HUMAN			11	4451	-			1504			Fibronectin type-III 6.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.4250G>A		.	.	.	.	.	.	.	.	.	.	C	13.46	2.244413	0.39697	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57752	0.38;0.38	5.52	4.64	0.57946	.	0.000000	0.41396	D	0.000889	T	0.34978	0.0916	M	0.67397	2.05	0.29740	N	0.837148	P	0.50617	0.937	P	0.47645	0.553	T	0.22382	-1.0218	10	0.13108	T	0.6	.	9.6088	0.39650	0.1602:0.6853:0.1545:0.0	.	1417	P22105-3	.	H	1417	ENSP00000364393:R1417H;ENSP00000364396:R1417H	ENSP00000364393:R1417H	R	-	2	0	TNXB	32154913	0.459000	0.25768	0.972000	0.41901	0.048000	0.14542	0.667000	0.25112	1.459000	0.47892	0.591000	0.81541	CGT		0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		79	729	0	0	0	1	0	79	729				
L3HYPDH	112849	broad.mit.edu	37	14	59946013	59946013	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:59946013C>T	ENST00000247194.4	-	2	678	c.565G>A	c.(565-567)Ggt>Agt	p.G189S	L3HYPDH_ENST00000487285.1_Missense_Mutation_p.G18S|RP11-701B16.2_ENST00000554253.1_RNA	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	189					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	TAAAATGCACCGCCATATGCA	0.423																																						ENST00000247194.4																			0											c.(565-567)Ggt>Agt		L-3-hydroxyproline dehydratase (trans-)							92.0	85.0	87.0					14																	59946013		2203	4300	6503	SO:0001583	missense	112849							g.chr14:59946013C>T	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.565G>A	14.37:g.59946013C>T	ENSP00000247194:p.Gly189Ser					L3HYPDH_ENST00000487285.1_Missense_Mutation_p.G18S|RP11-701B16.2_ENST00000554253.1_RNA	p.G189S	NM_144581.1	NP_653182.1					2	678	-								Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.565G>A	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	C	35	5.596368	0.96602	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.71341	-0.56;-0.56;-0.56	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91456	0.5185	10	0.87932	D	0	.	19.1044	0.93287	0.0:1.0:0.0:0.0	.	189	Q96EM0	PRCM_HUMAN	S	189;18;18	ENSP00000247194:G189S;ENSP00000431608:G18S;ENSP00000423874:G18S	ENSP00000247194:G189S	G	-	1	0	C14orf149	59015766	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.254000	0.78329	2.505000	0.84491	0.467000	0.42956	GGT		0.423	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		53	280	0	0	0	1	0	53	280				
TRGV4	6977	broad.mit.edu	37	7	38393523	38393523	+	RNA	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:38393523G>A	ENST00000390345.2	-	0	480									T cell receptor gamma variable 4																		AGTGGATGTAGCCGGTACTTC	0.512																																						ENST00000390345.2																			0																				104.0	91.0	95.0					7																	38393523		1848	3930	5778			0							g.chr7:38393523G>A	X15272		7p14	2013-12-13			ENSG00000211698	ENSG00000211698		"""T cell receptors / TRG locus"""	12289	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V4"""			TCRGV4		2969332	Standard	NG_001336		Approved	V1S4			OTTHUMG00000155099		7.37:g.38393523G>A														0	480	-									RNA	SNP	ENST00000390345.2	37																																																																																						0.512	TRGV4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338400.4	NG_001336		83	472	0	0	0	1	0	83	472				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		14	113	1	0	2.98522e-18	1	3.25175e-18	14	113				
CENPT	80152	broad.mit.edu	37	16	67863789	67863789	+	Silent	SNP	G	G	C			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:67863789G>C	ENST00000562787.1	-	12	1613	c.1065C>G	c.(1063-1065)ccC>ccG	p.P355P	CENPT_ENST00000564817.1_Intron|CENPT_ENST00000440851.2_Silent_p.P355P|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000219172.3_Silent_p.P355P	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	355	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P355P(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTACCCTGCTGGGTCCTTGTG	0.547																																						ENST00000562787.1																			1	Substitution - coding silent(1)	p.P355P(1)	lung(1)	NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(1063-1065)ccC>ccG		centromere protein T							272.0	282.0	279.0					16																	67863789		2124	4247	6371	SO:0001819	synonymous_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67863789G>C	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1065C>G	16.37:g.67863789G>C						CENPT_ENST00000219172.3_Silent_p.P355P|CENPT_ENST00000440851.2_Silent_p.P355P|CENPT_ENST00000564817.1_Intron	p.P355P	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	12	1613	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	355					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1065C>G	CCDS42182.1																																																																																				0.547	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		156	1058	0	0	0	1	0	156	1058				
SYT3	84258	broad.mit.edu	37	19	51133283	51133283	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:51133283G>A	ENST00000338916.4	-	3	1453	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	SYT3_ENST00000593901.1_Silent_p.L274L|SYT3_ENST00000544769.1_Silent_p.L274L|SYT3_ENST00000600079.1_Silent_p.L274L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	274					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCCTGGTACAGCTCTGGCTTA	0.677																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(820-822)Ctg>Ttg		synaptotagmin III							70.0	72.0	71.0					19																	51133283		2203	4300	6503	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51133283G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.820C>T	19.37:g.51133283G>A						SYT3_ENST00000600079.1_Silent_p.L274L|SYT3_ENST00000593901.1_Silent_p.L274L|SYT3_ENST00000544769.1_Silent_p.L274L	p.L274L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	3	1453	-		all_neural(266;0.131)	274					Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.820C>T	CCDS12798.1																																																																																				0.677	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		81	554	0	0	0	1	0	81	554				
NXPE2	120406	broad.mit.edu	37	11	114569054	114569054	+	Silent	SNP	A	A	G	rs1712838	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:114569054A>G	ENST00000389586.4	+	3	610	c.420A>G	c.(418-420)ggA>ggG	p.G140G	NXPE2_ENST00000375475.5_Silent_p.G140G	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	140						integral component of membrane (GO:0016021)											ACCACTTGGGACACAGGAAGC	0.552													A|||	3819	0.76258	0.674	0.8329	5008	,	,		20885	0.8224		0.7773	False		,,,				2504	0.7556					ENST00000375475.5																			0											c.(418-420)ggA>ggG		neurexophilin and PC-esterase domain family, member 2		A		990,394		354,282,56	121.0	105.0	110.0		420	-0.8	0.0	11	dbSNP_89	110	2490,692		966,558,67	no	coding-synonymous	FAM55B	NM_182495.5		1320,840,123	GG,GA,AA		21.7473,28.4682,23.7845		140/560	114569054	3480,1086	692	1591	2283	SO:0001819	synonymous_variant	120406							g.chr11:114569054A>G	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.420A>G	11.37:g.114569054A>G						NXPE2_ENST00000389586.4_Silent_p.G140G	p.G140G							3	518	+								Q2NKI8	Silent	SNP	ENST00000389586.4	37	c.420A>G	CCDS44738.1																																																																																				0.552	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		9	156	0	0	0	1	0	9	156				
PHACTR1	221692	broad.mit.edu	37	6	13230385	13230385	+	Missense_Mutation	SNP	C	C	T	rs370759003		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:13230385C>T	ENST00000379350.1	+	9	1480	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	PHACTR1_ENST00000332995.7_Missense_Mutation_p.R451W|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R306W|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	451					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGATGAGGAGCGGCTGGAGCT	0.587																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1351-1353)Cgg>Tgg		phosphatase and actin regulator 1		C	TRP/ARG,TRP/ARG	0,4100		0,0,2050	31.0	32.0	32.0		1351,1351	-1.6	0.8	6		32	1,8399		0,1,4199	no	missense,missense	PHACTR1	NM_030948.2,NM_001242648.1	101,101	0,1,6249	TT,TC,CC		0.0119,0.0,0.0080	benign,benign	451/581,451/581	13230385	1,12499	2050	4200	6250	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13230385C>T	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1351C>T	6.37:g.13230385C>T	ENSP00000368655:p.Arg451Trp					PHACTR1_ENST00000332995.7_Missense_Mutation_p.R451W|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R306W|PHACTR1_ENST00000379345.2_Intron	p.R451W			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		9	1480	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	451					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.1351C>T		.	.	.	.	.	.	.	.	.	.	C	19.87	3.906594	0.72868	0.0	1.19E-4	ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	T;T;T	0.39406	1.08;1.14;1.23	5.47	-1.6	0.08426	.	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	L	0.47716	1.5	0.80722	D	1	D;B;D	0.89917	1.0;0.274;1.0	D;B;D	0.83275	0.994;0.053;0.996	T	0.53774	-0.8391	10	0.59425	D	0.04	-14.544	17.6799	0.88240	0.3077:0.6923:0.0:0.0	.	520;451;451	E7ESR5;Q9C0D0;Q9C0D0-2	.;PHAR1_HUMAN;.	W	451;451;520;306	ENSP00000368655:R451W;ENSP00000329880:R451W;ENSP00000397669:R306W	ENSP00000329880:R451W	R	+	1	2	PHACTR1	13338364	0.983000	0.35010	0.846000	0.33378	0.987000	0.75469	0.326000	0.19646	-0.430000	0.07318	0.557000	0.71058	CGG		0.587	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		11	76	0	0	0	1	0	11	76				
USH2A	7399	broad.mit.edu	37	1	216498693	216498693	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:216498693T>C	ENST00000307340.3	-	6	1483	c.1097A>G	c.(1096-1098)aAt>aGt	p.N366S	USH2A_ENST00000366943.2_Missense_Mutation_p.N366S|USH2A_ENST00000366942.3_Missense_Mutation_p.N366S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	366	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTCCTTGATTAAGCTGTGT	0.363										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(1096-1098)aAt>aGt		Usher syndrome 2A (autosomal recessive, mild)							116.0	104.0	108.0					1																	216498693		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216498693T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1097A>G	1.37:g.216498693T>C	ENSP00000305941:p.Asn366Ser	HNSCC(13;0.011)				USH2A_ENST00000366942.3_Missense_Mutation_p.N366S|USH2A_ENST00000307340.3_Missense_Mutation_p.N366S	p.N366S			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	6	1483	-			366			Laminin N-terminal.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1097A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	9.139	1.013265	0.19277	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.19806	2.55;2.54;2.12	5.36	4.23	0.50019	Laminin, N-terminal (3);	0.963531	0.08481	N	0.939588	T	0.19485	0.0468	L	0.45228	1.405	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.002	T	0.35773	-0.9775	10	0.15066	T	0.55	.	11.0938	0.48132	0.0:0.0725:0.0:0.9275	.	366;366	O75445-2;O75445	.;USH2A_HUMAN	S	366	ENSP00000305941:N366S;ENSP00000355910:N366S;ENSP00000355909:N366S	ENSP00000305941:N366S	N	-	2	0	USH2A	214565316	0.222000	0.23652	0.040000	0.18447	0.877000	0.50540	3.185000	0.50934	0.880000	0.35969	0.528000	0.53228	AAT		0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		48	393	0	0	0	1	0	48	393				
L1CAM	3897	broad.mit.edu	37	X	153135631	153135631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:153135631G>A	ENST00000370060.1	-	9	1060	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q293*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q293*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	291	Ig-like C2-type 3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGTGGTTCTGGTAGGTGACA	0.642																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(871-873)Cag>Tag		L1 cell adhesion molecule							189.0	170.0	176.0					X																	153135631		2203	4300	6503	SO:0001587	stop_gained	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153135631G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.871C>T	X.37:g.153135631G>A	ENSP00000359077:p.Gln291*					L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q293*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q293*	p.Q291*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			9	1060	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		291			Ig-like C2-type 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Nonsense_Mutation	SNP	ENST00000370060.1	37	c.871C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	37	6.085530	0.97271	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	.	.	.	5.15	4.22	0.49857	.	0.222293	0.31210	N	0.008045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	12.2623	0.54658	0.0:0.2934:0.7066:0.0	.	.	.	.	X	291;293;291;293;286;286;291	.	ENSP00000355380:Q291X	Q	-	1	0	L1CAM	152788825	0.838000	0.29461	1.000000	0.80357	0.908000	0.53690	0.530000	0.23036	2.283000	0.76528	0.529000	0.55759	CAG		0.642	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		199	598	0	0	0	1	0	199	598				
NAALAD2	10003	broad.mit.edu	37	11	89891358	89891358	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:89891358G>A	ENST00000534061.1	+	7	1072	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	NAALAD2_ENST00000321955.4_Missense_Mutation_p.R281Q|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	281	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGAATCCCCCGAATACCTGTA	0.313																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(841-843)cGa>cAa		N-acetylated alpha-linked acidic dipeptidase 2							115.0	120.0	118.0					11																	89891358		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89891358G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.842G>A	11.37:g.89891358G>A	ENSP00000432481:p.Arg281Gln					NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.R281Q|NAALAD2_ENST00000525171.1_Intron	p.R281Q	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			7	1072	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	281			NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.842G>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285494	0.40394	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.41758	0.99;0.99	5.13	3.99	0.46301	.	0.797499	0.11731	N	0.534986	T	0.21801	0.0525	N	0.05414	-0.055	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05084	-1.0907	9	.	.	.	0.2934	8.4175	0.32681	0.8469:0.0:0.1531:0.0	.	281;281	Q9Y3Q0;Q8IUX3	NALD2_HUMAN;.	Q	281	ENSP00000432481:R281Q;ENSP00000320083:R281Q	.	R	+	2	0	NAALAD2	89531006	0.968000	0.33430	0.443000	0.26883	0.982000	0.71751	3.300000	0.51834	0.919000	0.36945	-0.341000	0.08007	CGA		0.313	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		62	539	0	0	0	1	0	62	539				
RAB11FIP5	26056	broad.mit.edu	37	2	73302662	73302662	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:73302662C>G	ENST00000258098.6	-	5	2189	c.1949G>C	c.(1948-1950)gGc>gCc	p.G650A	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	650					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TTTGGGGGGGCCCGGGGGGAT	0.637																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1948-1950)gGc>gCc		RAB11 family interacting protein 5 (class I)							38.0	46.0	43.0					2																	73302662		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73302662C>G	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1949G>C	2.37:g.73302662C>G	ENSP00000258098:p.Gly650Ala					RAB11FIP5_ENST00000493523.2_5'UTR	p.G650A	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			5	2189	-			650					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.1949G>C	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.263926	0.01433	.	.	ENSG00000135631	ENST00000258098	T	0.42900	0.96	4.38	-6.1	0.02138	.	0.606002	0.15908	N	0.238756	T	0.19287	0.0463	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05683	-1.0870	10	0.38643	T	0.18	0.2415	2.0902	0.03655	0.0996:0.3026:0.2525:0.3452	.	650	Q9BXF6	RFIP5_HUMAN	A	650	ENSP00000258098:G650A	ENSP00000258098:G650A	G	-	2	0	RAB11FIP5	73156170	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.912000	0.04046	-1.557000	0.01692	-1.090000	0.02178	GGC		0.637	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		24	337	0	0	0	1	0	24	337				
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200299226	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				ERCC8_ENST00000426742.2_5'Flank|ERCC8_ENST00000265038.5_5'Flank|ERCC8_ENST00000543101.1_5'Flank|NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2						negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6								NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							29.0	29.0	29.0					5																	60241050		2203	4300	6503			91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241050G>A	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.-33G>A	5.37:g.60241050G>A						NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame		NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN			0	95	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)						A8K5I1	Translation_Start_Site	SNP	ENST00000296597.5	37		CCDS3979.1																																																																																				0.632	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		6	101	0	0	0	1	0	6	101				
TRPM6	140803	broad.mit.edu	37	9	77423011	77423011	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:77423011C>T	ENST00000360774.1	-	14	1814	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R526H|TRPM6_ENST00000376872.3_Missense_Mutation_p.R526H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R521H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R521H|TRPM6_ENST00000451710.3_Missense_Mutation_p.R526H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	526					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGTTGCTGCGATATGCTCT	0.388																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1576-1578)cGc>cAc		transient receptor potential cation channel, subfamily M, member 6							256.0	243.0	247.0					9																	77423011		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77423011C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1577G>A	9.37:g.77423011C>T	ENSP00000354006:p.Arg526His					TRPM6_ENST00000360774.1_Missense_Mutation_p.R526H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R521H|TRPM6_ENST00000376864.4_Missense_Mutation_p.R526H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Missense_Mutation_p.R526H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R521H	p.R526H			Q9BX84	TRPM6_HUMAN			14	1814	-			526					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1577G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924348	0.92319	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T	0.75704	-0.96;-0.96;0.42;-0.96;-0.96;-0.96	5.74	5.74	0.90152	.	0.155279	0.64402	D	0.000012	D	0.84365	0.5456	M	0.73372	2.23	0.58432	D	0.999992	D;D;D	0.89917	0.999;1.0;0.993	D;D;P	0.68765	0.917;0.96;0.805	D	0.85613	0.1259	10	0.87932	D	0	.	14.1263	0.65222	0.0:0.9285:0.0:0.0715	.	526;526;521	Q9BX84-5;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	H	526;526;526;521;521;526;189;189	ENSP00000354006:R526H;ENSP00000407341:R526H;ENSP00000366068:R526H;ENSP00000396672:R521H;ENSP00000354962:R521H;ENSP00000366060:R526H	ENSP00000309693:R189H	R	-	2	0	TRPM6	76612831	0.999000	0.42202	0.995000	0.50966	0.988000	0.76386	4.079000	0.57613	2.715000	0.92844	0.655000	0.94253	CGC		0.388	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		53	395	0	0	0	1	0	53	395				
PCDHA8	56140	broad.mit.edu	37	5	140222482	140222482	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:140222482G>A	ENST00000531613.1	+	1	1576	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E526K|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACCACGAGGAGCTAGA	0.677																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1576-1578)Gag>Aag									67.0	79.0	75.0					5																	140222482		2196	4265	6461	SO:0001583	missense	0							g.chr5:140222482G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1576G>A	5.37:g.140222482G>A	ENSP00000434655:p.Glu526Lys					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E526K|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.E526K	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1576	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1576G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173878	0.78452	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.72394	-0.65;-0.65	3.72	3.72	0.42706	Cadherin (5);Cadherin-like (1);	0.000000	0.37053	U	0.002270	D	0.90614	0.7057	H	0.99169	4.455	0.43622	D	0.996001	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94761	0.7936	10	0.87932	D	0	.	15.5151	0.75818	0.0:0.0:1.0:0.0	.	526;526	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	K	526	ENSP00000434655:E526K;ENSP00000367363:E526K	ENSP00000367363:E526K	E	+	1	0	PCDHA8	140202666	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	9.188000	0.94921	1.790000	0.52503	0.306000	0.20318	GAG		0.677	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		115	946	0	0	0	1	0	115	946				
NCKAP5	344148	broad.mit.edu	37	2	133542683	133542683	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:133542683G>A	ENST00000409261.1	-	14	2074	c.1701C>T	c.(1699-1701)ggC>ggT	p.G567G	NCKAP5_ENST00000317721.6_Silent_p.G567G|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	567										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CATGGCCTTGGCCCTGTGGGC	0.542																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(1699-1701)ggC>ggT		NCK-associated protein 5							77.0	79.0	78.0					2																	133542683		1994	4158	6152	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133542683G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1701C>T	2.37:g.133542683G>A						NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.G567G	p.G567G	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	2074	-			567					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.1701C>T	CCDS46418.1																																																																																				0.542	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		62	427	0	0	0	1	0	62	427				
TP53	7157	broad.mit.edu	37	17	7578525	7578525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:7578525G>T	ENST00000269305.4	-	5	594	c.405C>A	c.(403-405)tgC>tgA	p.C135*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.C135*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C135*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C135*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C135*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C135*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCCAGTTGGCAAAACATCT	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		68	Substitution - Missense(27)|Deletion - Frameshift(9)|Substitution - Nonsense(8)|Whole gene deletion(8)|Substitution - coding silent(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Insertion - In frame(2)|Complex - deletion inframe(1)	p.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)	urinary_tract(11)|lung(8)|breast(7)|central_nervous_system(6)|oesophagus(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(2)|skin(2)|prostate(2)|thyroid(1)|liver(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(403-405)tgC>tgA	Other conserved DNA damage response genes	tumor protein p53							51.0	51.0	51.0					17																	7578525		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578525G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.405C>A	17.37:g.7578525G>T	ENSP00000269305:p.Cys135*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Nonsense_Mutation_p.C135*|TP53_ENST00000269305.4_Nonsense_Mutation_p.C135*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C135*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C135*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C135*	p.C135*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	537	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	135		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.405C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678815	0.88542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	3.5	0.40072	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.815	10.0222	0.42051	0.1647:0.0:0.8353:0.0	.	.	.	.	X	135;135;135;135;135;135;124;42;3;42;3;135	.	ENSP00000269305:C135X	C	-	3	2	TP53	7519250	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	0.645000	0.24782	0.798000	0.33994	0.655000	0.94253	TGC		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	173	1	0	3.28513e-13	1	3.45505e-13	23	173				
KCNH1	3756	broad.mit.edu	37	1	211256132	211256132	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:211256132C>T	ENST00000271751.4	-	5	575	c.548G>A	c.(547-549)cGc>cAc	p.R183H	KCNH1_ENST00000367007.4_Missense_Mutation_p.R183H			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	183					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCTGCCAGGCGGGAGTGCTT	0.547																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(547-549)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 1							131.0	112.0	118.0					1																	211256132		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211256132C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.548G>A	1.37:g.211256132C>T	ENSP00000271751:p.Arg183His					KCNH1_ENST00000271751.4_Missense_Mutation_p.R183H	p.R183H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	5	717	-			183					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.548G>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564274	0.65651	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98958	-5.21;-5.27	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.96806	0.8957	L	0.41710	1.295	0.80722	D	1	B;B	0.15141	0.008;0.012	B;B	0.14023	0.006;0.01	D	0.94651	0.7839	10	0.39692	T	0.17	.	17.6243	0.88090	0.0:1.0:0.0:0.0	.	183;183	Q14CL3;O95259	.;KCNH1_HUMAN	H	183	ENSP00000271751:R183H;ENSP00000355974:R183H	ENSP00000271751:R183H	R	-	2	0	KCNH1	209322755	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.383000	0.79741	2.477000	0.83638	0.561000	0.74099	CGC		0.547	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		147	499	0	0	0	1	0	147	499				
CTSG	1511	broad.mit.edu	37	14	25043947	25043947	+	Silent	SNP	C	C	T	rs533433194		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:25043947C>T	ENST00000216336.2	-	3	309	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	91	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.A91A(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGGCTCTGCGCGCAGTGATGT	0.532																																						ENST00000216336.2																			1	Substitution - coding silent(1)	p.A91A(1)	urinary_tract(1)	autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(271-273)gcG>gcA		cathepsin G							211.0	169.0	183.0					14																	25043947		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043947C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.273G>A	14.37:g.25043947C>T							p.A91A	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	309	-			91			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.273G>A	CCDS9631.1																																																																																				0.532	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		103	361	0	0	0	1	0	103	361				
IFNL1	282618	broad.mit.edu	37	19	39787112	39787112	+	Silent	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:39787112C>T	ENST00000333625.2	+	1	148	c.51C>T	c.(49-51)gcC>gcT	p.A17A		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	17					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of cell proliferation (GO:0008285)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of memory T cell differentiation (GO:0043381)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of immune response (GO:0050778)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-28 receptor complex (GO:0032002)	interleukin-28 receptor binding (GO:0032003)|receptor binding (GO:0005102)										TAGGCTTGGCCGTGGCAGGCC	0.587																																						ENST00000333625.2																			0											c.(49-51)gcC>gcT		interferon, lambda 1							98.0	88.0	91.0					19																	39787112		2203	4300	6503	SO:0001819	synonymous_variant	282618							g.chr19:39787112C>T	AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393		"""Interferons"""	18363	protein-coding gene	gene with protein product		607403	"""interleukin 29"", ""interleukin 29 (interferon, lambda 1)"""	IL29			Standard	NM_172140		Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.51C>T	19.37:g.39787112C>T							p.A17A	NM_172140.1	NP_742152.1					1	148	+								A0AV25|Q17R34	Silent	SNP	ENST00000333625.2	37	c.51C>T	CCDS12531.1																																																																																				0.587	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463834.1	NM_172140		49	365	0	0	0	1	0	49	365				
TTN	7273	broad.mit.edu	37	2	179621444	179621444	+	Intron	SNP	T	T	C	rs370496599		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:179621444T>C	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.T3416A|TTN_ENST00000589042.1_Missense_Mutation_p.T3587A			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCCTTTGTGAAAGAGGAA	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(10759-10761)Aca>Gca		titin							77.0	74.0	75.0					2																	179621444		1891	4112	6003	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179621444T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+2266A>G	2.37:g.179621444T>C						TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.T3416A|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron	p.T3587A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10983	-			3273					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10759A>G		.	.	.	.	.	.	.	.	.	.	T	12.01	1.808778	0.31961	.	.	ENSG00000155657	ENST00000342175	T	0.61392	0.11	5.8	4.62	0.57501	.	.	.	.	.	T	0.46639	0.1403	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.44498	-0.9324	8	0.87932	D	0	.	6.238	0.20774	0.1425:0.0743:0.0:0.7832	.	3416	E7ET18	.	A	3416	ENSP00000340554:T3416A	ENSP00000340554:T3416A	T	-	1	0	TTN	179329689	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	1.923000	0.40055	0.993000	0.38866	0.533000	0.62120	ACA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	191	0	0	0	1	0	24	191				
OR51F2	119694	broad.mit.edu	37	11	4843497	4843497	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:4843497T>G	ENST00000322110.5	+	1	947	c.882T>G	c.(880-882)ttT>ttG	p.F294L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAATGTCTTTCTGCTAATCC	0.423																																						ENST00000322110.5																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(880-882)ttT>ttG		olfactory receptor, family 51, subfamily F, member 2							235.0	189.0	205.0					11																	4843497		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843497T>G	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.882T>G	11.37:g.4843497T>G	ENSP00000323952:p.Phe294Leu					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.F294L	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	947	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	294					Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.882T>G	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.739947	0.49045	.	.	ENSG00000176925	ENST00000322110	T	0.00036	8.86	4.71	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	0.179185	0.26684	U	0.023031	T	0.00210	0.0006	L	0.48642	1.525	0.09310	N	0.999996	P	0.43287	0.802	P	0.47251	0.542	T	0.46527	-0.9185	10	0.87932	D	0	.	11.1978	0.48724	0.0:0.907:0.0:0.093	.	294	Q8NH61	O51F2_HUMAN	L	294	ENSP00000323952:F294L	ENSP00000323952:F294L	F	+	3	2	OR51F2	4800073	0.000000	0.05858	0.928000	0.36995	0.619000	0.37552	-0.058000	0.11750	1.312000	0.45043	-0.366000	0.07423	TTT		0.423	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		22	453	0	0	0	1	0	22	453				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			12	139	0	0	0	1	0	12	139				
IRF2	3660	broad.mit.edu	37	4	185340717	185340717	+	Silent	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:185340717C>T	ENST00000393593.3	-	3	300	c.93G>A	c.(91-93)aaG>aaA	p.K31K	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	31					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GAAAAATCTTCTTTTCCTGaa	0.423																																						ENST00000393593.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(91-93)aaG>aaA		interferon regulatory factor 2							55.0	59.0	57.0					4																	185340717		2203	4300	6503	SO:0001819	synonymous_variant	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185340717C>T		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.93G>A	4.37:g.185340717C>T						IRF2_ENST00000512020.1_5'UTR	p.K31K	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	3	300	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	31					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Silent	SNP	ENST00000393593.3	37	c.93G>A	CCDS3835.1																																																																																				0.423	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			20	166	0	0	0	1	0	20	166				
MPO	4353	broad.mit.edu	37	17	56356676	56356676	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:56356676G>A	ENST00000225275.3	-	5	836	c.660C>T	c.(658-660)aaC>aaT	p.N220N	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Silent_p.N252N	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	220					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CCGGGAAGCCGTTGCGCTTGA	0.731																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(754-756)aaC>aaT		myeloperoxidase	Cefdinir(DB00535)						8.0	12.0	10.0					17																	56356676		2124	4168	6292	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56356676G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.660C>T	17.37:g.56356676G>A						MPO_ENST00000225275.3_Silent_p.N220N	p.N252N			P05164	PERM_HUMAN			4	932	-			220					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.756C>T	CCDS11604.1																																																																																				0.731	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			9	43	0	0	0	1	0	9	43				
ZC3H11A	9877	broad.mit.edu	37	1	203798664	203798664	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:203798664G>T	ENST00000545588.1	+	5	4211	c.384G>T	c.(382-384)caG>caT	p.Q128H	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q128H	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	128					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTCTGTCCAGTCCAATCCTT	0.478																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(382-384)caG>caT		zinc finger CCCH-type containing 11A							81.0	80.0	81.0					1																	203798664		2203	4297	6500	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203798664G>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.384G>T	1.37:g.203798664G>T	ENSP00000438527:p.Gln128His					ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q128H	p.Q128H	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	4211	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		128					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.384G>T	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819026	0.90873	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.87	5.87	0.94306	.	0.238543	0.43416	D	0.000563	T	0.65460	0.2693	L	0.55481	1.735	0.47737	D	0.999509	D	0.89917	1.0	D	0.78314	0.991	T	0.63800	-0.6555	10	0.59425	D	0.04	-26.9465	17.4969	0.87720	0.0:0.0:1.0:0.0	.	128	O75152	ZC11A_HUMAN	H	128;128;74;128;128;128;128	ENSP00000356183:Q128H;ENSP00000356181:Q128H;ENSP00000333253:Q128H;ENSP00000438527:Q128H;ENSP00000356179:Q128H	ENSP00000333253:Q128H	Q	+	3	2	ZC3H11A	202065287	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.089000	0.30890	2.941000	0.99782	0.655000	0.94253	CAG		0.478	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		53	520	1	0	2.81731e-22	1	3.12465e-22	53	520				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			11	139	0	0	0	1	0	11	139				
TLN2	83660	broad.mit.edu	37	15	62993388	62993388	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:62993388G>A	ENST00000561311.1	+	16	1901	c.1671G>A	c.(1669-1671)acG>acA	p.T557T	TLN2_ENST00000306829.6_Silent_p.T557T			Q9Y4G6	TLN2_HUMAN	talin 2	557					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGGCCGGAACGGCTTCAGTTG	0.418																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(1669-1671)acG>acA		talin 2							81.0	69.0	73.0					15																	62993388		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62993388G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1671G>A	15.37:g.62993388G>A						TLN2_ENST00000306829.6_Silent_p.T557T	p.T557T			Q9Y4G6	TLN2_HUMAN			16	1901	+			557					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.1671G>A	CCDS32261.1																																																																																				0.418	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			38	218	0	0	0	1	0	38	218				
CPEB4	80315	broad.mit.edu	37	5	173337529	173337529	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:173337529C>T	ENST00000265085.5	+	2	2583	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000519835.1_Missense_Mutation_p.R377C|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377C|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377C|CPEB4_ENST00000522336.1_5'UTR	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	377					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTACAGGATCGCCCCAGGAC	0.368																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1129-1131)Cgc>Tgc		cytoplasmic polyadenylation element binding protein 4							98.0	103.0	101.0					5																	173337529		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173337529C>T	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1129C>T	5.37:g.173337529C>T	ENSP00000265085:p.Arg377Cys					CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377C|CPEB4_ENST00000519835.1_Missense_Mutation_p.R377C|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377C	p.R377C	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	2583	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	377					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.1129C>T	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923383	0.92319	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.61859	0.24;0.09;0.2;0.07	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71870	0.943;0.975;0.974;0.962	T	0.76217	-0.3040	10	0.87932	D	0	-13.1041	20.6593	0.99626	0.0:1.0:0.0:0.0	.	377;377;377;377	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	C	377	ENSP00000265085:R377C;ENSP00000429092:R377C;ENSP00000334533:R377C;ENSP00000429048:R377C	ENSP00000265085:R377C	R	+	1	0	CPEB4	173270135	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.832000	0.69337	2.885000	0.99019	0.655000	0.94253	CGC		0.368	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		75	422	0	0	0	1	0	75	422				
OTOGL	283310	broad.mit.edu	37	12	80632702	80632702	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:80632702G>T	ENST00000547103.1	+	9	868	c.862G>T	c.(862-864)Gta>Tta	p.V288L	OTOGL_ENST00000458043.2_Missense_Mutation_p.V288L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	288	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACCAAATGTGTACTCACACC	0.443																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(862-864)Gta>Tta		otogelin-like							92.0	95.0	94.0					12																	80632702		1936	4132	6068	SO:0001583	missense	283310							g.chr12:80632702G>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.862G>T	12.37:g.80632702G>T	ENSP00000447211:p.Val288Leu					OTOGL_ENST00000547103.1_Missense_Mutation_p.V288L	p.V288L	NM_173591.3	NP_775862.3					9	868	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.862G>T		.	.	.	.	.	.	.	.	.	.	G	4.303	0.055553	0.08291	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.15256	2.44;2.44	5.24	2.39	0.29439	.	.	.	.	.	T	0.10121	0.0248	N	0.25485	0.75	0.28364	N	0.920332	.	.	.	.	.	.	T	0.32402	-0.9908	7	0.07644	T	0.81	.	7.3855	0.26880	0.2065:0.0:0.6736:0.1199	.	.	.	.	L	288	ENSP00000447211:V288L;ENSP00000400895:V288L	ENSP00000400895:V288L	V	+	1	0	OTOGL	79156833	1.000000	0.71417	0.984000	0.44739	0.608000	0.37181	1.249000	0.32839	0.727000	0.32360	-0.229000	0.12294	GTA		0.443	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		10	57	1	0	0.000442599	1	0.000442599	10	57				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		13	98	0	0	0	1	0	13	98				
LVRN	206338	broad.mit.edu	37	5	115327959	115327959	+	Silent	SNP	C	C	T	rs376904306		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:115327959C>T	ENST00000357872.4	+	5	1369	c.1245C>T	c.(1243-1245)caC>caT	p.H415H	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		415						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										TTGTCTCCCACGAGATTGGAC	0.388																																						ENST00000357872.4																			0											c.(1243-1245)caC>caT				C		1,4403	2.1+/-5.4	0,1,2201	128.0	134.0	132.0		1245	-4.2	0.9	5		132	0,8600		0,0,4300	no	coding-synonymous	AQPEP	NM_173800.4		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		415/991	115327959	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115327959C>T																												ENST00000357872.4:c.1245C>T	5.37:g.115327959C>T						AQPEP_ENST00000395528.2_5'UTR	p.H415H	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			5	1369	+			415					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	c.1245C>T	CCDS4124.1																																																																																				0.388	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			62	381	0	0	0	1	0	62	381				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		15	122	0	0	0	1	0	15	122				
DISC1	27185	broad.mit.edu	37	1	231830345	231830345	+	Missense_Mutation	SNP	G	G	A	rs367543086		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:231830345G>A	ENST00000602281.1	+	2	894	c.841G>A	c.(841-843)Gca>Aca	p.A281T	DISC1_ENST00000366633.3_Missense_Mutation_p.A281T|DISC1_ENST00000366636.4_Missense_Mutation_p.A281T|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.A281T|DISC1_ENST00000535983.1_Missense_Mutation_p.A281T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000539444.1_Missense_Mutation_p.A281T|DISC1_ENST00000317586.4_Missense_Mutation_p.A281T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000439617.2_Missense_Mutation_p.A281T	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	281	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCCCAGGCCGCAAGGAACAG	0.612																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(841-843)Gca>Aca		disrupted in schizophrenia 1							49.0	53.0	52.0					1																	231830345		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231830345G>A	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.841G>A	1.37:g.231830345G>A	ENSP00000473425:p.Ala281Thr					DISC1_ENST00000537876.1_Missense_Mutation_p.A281T|DISC1_ENST00000539444.1_Missense_Mutation_p.A281T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.A281T|DISC1_ENST00000317586.4_Missense_Mutation_p.A281T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Missense_Mutation_p.A281T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.A281T|DISC1_ENST00000602281.1_Missense_Mutation_p.A281T	p.A281T	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			2	894	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	281			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.841G>A	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	G	0.711	-0.786971	0.02907	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.14144	3.16;2.53;2.99;2.98;2.79;3.17;2.8;2.8;2.78	4.64	-6.62	0.01813	.	0.905177	0.09699	N	0.767312	T	0.02156	0.0067	N	0.01438	-0.865	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.28880	0.001;0.089;0.089;0.226;0.033;0.041;0.089;0.089;0.033;0.089;0.001;0.093;0.013;0.089;0.015;0.093;0.093;0.015;0.093;0.093;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16722	0.001;0.009;0.013;0.013;0.005;0.016;0.009;0.009;0.005;0.009;0.001;0.008;0.005;0.009;0.005;0.005;0.008;0.005;0.005;0.005;0.003	T	0.34403	-0.9830	10	0.02654	T	1	-0.1398	1.0607	0.01600	0.4317:0.1966:0.1615:0.2103	.	281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	T	281;281;281;281;281;281;281;281;281;281;281;281;132	ENSP00000403888:A281T;ENSP00000320784:A281T;ENSP00000355596:A281T;ENSP00000443996:A281T;ENSP00000440909:A281T;ENSP00000355593:A281T;ENSP00000440953:A281T;ENSP00000295051:A281T;ENSP00000441193:A281T	ENSP00000295051:A281T	A	+	1	0	DISC1	229896968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.175000	0.03102	-1.334000	0.02244	-1.019000	0.02448	GCA		0.612	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		31	342	0	0	0	1	0	31	342				
RASGRF1	5923	broad.mit.edu	37	15	79296394	79296394	+	Silent	SNP	C	C	T	rs140968213		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:79296394C>T	ENST00000419573.3	-	16	2521	c.2247G>A	c.(2245-2247)tcG>tcA	p.S749S	RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S733S|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	749	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCTCGGTGACGATGTCTTGG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16615	0.0		0.0	False		,,,				2504	0.0					ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2245-2247)tcG>tcA		Ras protein-specific guanine nucleotide-releasing factor 1		C	,,	0,4392		0,0,2196	54.0	56.0	55.0		2199,2247,	-8.7	0.0	15	dbSNP_134	55	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous,utr-5	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	,,	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	,,	733/1258,749/1274,	79296394	1,12977	2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79296394C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2247G>A	15.37:g.79296394C>T						RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S733S|RASGRF1_ENST00000394745.3_5'UTR	p.S749S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			16	2521	-			749			N-terminal Ras-GEF.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2247G>A	CCDS10309.1																																																																																				0.637	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		51	428	0	0	0	1	0	51	428				
CRYAB	1410	broad.mit.edu	37	11	111780950	111780950	+	Intron	SNP	G	G	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:111780950G>T	ENST00000533475.1	-	3	774				CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000533280.1_Intron|HSPB2_ENST00000304298.3_5'Flank|CRYAB_ENST00000533971.1_Missense_Mutation_p.P142Q|HSPB2_ENST00000537382.1_5'Flank|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000525823.1_Intron|HSPB2-C11orf52_ENST00000534100.1_5'Flank	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B						aging (GO:0007568)|apoptotic process involved in morphogenesis (GO:0060561)|cellular response to gamma radiation (GO:0071480)|glucose metabolic process (GO:0006006)|lens development in camera-type eye (GO:0002088)|microtubule polymerization or depolymerization (GO:0031109)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of gene expression (GO:0010629)|negative regulation of intracellular transport (GO:0032387)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)|regulation of cell death (GO:0010941)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|stress-activated MAPK cascade (GO:0051403)|tubulin complex assembly (GO:0007021)	actin filament bundle (GO:0032432)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418																																						ENST00000533971.1																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8						c.(424-426)cCa>cAa		crystallin, alpha B																																				SO:0001627	intron_variant	1410				anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	g.chr11:111780950G>T		CCDS8351.1	11q22.3-q23.1	2014-09-17				ENSG00000109846		"""Heat shock proteins / HSPB"""	2389	protein-coding gene	gene with protein product		123590		CRYA2		8431633	Standard	NM_001885		Approved	HSPB5	uc001pmf.1	P02511		ENST00000533475.1:c.324+100C>A	11.37:g.111780950G>T						CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000533280.1_Intron	p.P142Q			P02511	CRYAB_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	2	516	-		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	0					B0YIX0|O43416|Q9UC37|Q9UC38|Q9UC39|Q9UC40|Q9UC41	Missense_Mutation	SNP	ENST00000533475.1	37	c.425C>A	CCDS8351.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672679	0.29693	.	.	ENSG00000109846	ENST00000533971	D	0.92199	-2.99	4.44	-0.0735	0.13735	.	.	.	.	.	D	0.84056	0.5388	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.72014	-0.4418	8	0.72032	D	0.01	.	0.2439	0.00196	0.3354:0.2275:0.239:0.1981	.	142	E9PRA8	.	Q	142	ENSP00000434269:P142Q	ENSP00000434269:P142Q	P	-	2	0	CRYAB	111286160	0.039000	0.19947	0.000000	0.03702	0.054000	0.15201	0.853000	0.27777	-0.004000	0.14419	-0.136000	0.14681	CCA		0.418	CRYAB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391658.1			15	90	1	0	2.94398e-08	1	2.99305e-08	15	90				
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(343-345)afs		DnaJ (Hsp40) homolog, subfamily C, member 11																																				SO:0001589	frameshift_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727803_6727804delTC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs					DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs	p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	4	466_467	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	116					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	c.343_344delGA	CCDS87.1																																																																																				0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		11	351						11	351	---	---	---	---
AADACL3	126767	broad.mit.edu	37	1	12785494	12785494	+	Frame_Shift_Del	DEL	G	G	-	rs7513079	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:12785494delG	ENST00000359318.5	+	4	789	c.584delG	c.(583-585)tgtfs	p.C195fs	AADACL3_ENST00000332530.3_Frame_Shift_Del_p.C125fs	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195			C -> F (in dbSNP:rs7513079). {ECO:0000269|PubMed:14702039}.				hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGCTACTGTTTTTTTCAA	0.458																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(373-375)ttfs		arylacetamide deacetylase-like 3							148.0	137.0	140.0					1																	12785494		1854	4094	5948	SO:0001589	frameshift_variant	126767						hydrolase activity	g.chr1:12785494delG		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.584delG	1.37:g.12785494delG	ENSP00000352268:p.Cys195fs					AADACL3_ENST00000359318.5_Frame_Shift_Del_p.C195fs	p.C125fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	600	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	195					B3KXR9|Q5VUY1	Frame_Shift_Del	DEL	ENST00000359318.5	37	c.374delG	CCDS41253.1																																																																																				0.458	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		10	1165						10	1165	---	---	---	---
ESPNP	284729	broad.mit.edu	37	1	17034614	17034615	+	RNA	INS	-	-	CC	rs537683833|rs575049594	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:17034614_17034615insCC	ENST00000492551.1	-	0	194					NR_026567.1				espin pseudogene																		TCAGCGCCTCACCCCCTCCGAG	0.728																																						ENST00000492551.1																			0																																																			0							g.chr1:17034614_17034615insCC	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034617_17034618dupCC								NR_026567.1						0	194	-									RNA	INS	ENST00000492551.1	37																																																																																						0.728	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			8	10						8	10	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855|rs373434974		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1.0		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.700	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		8	232						8	232	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G	rs368205479|rs371276355		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												tcgctcacgctggagctgtaga	0.535																																						ENST00000467933.1																			0																																																			0							g.chr1:144043905_144043906insG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144043907_144043907dupG														0	1108	+									RNA	INS	ENST00000467933.1	37																																																																																						0.535	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		8	97						8	97	---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)tttfs	p.F526fs	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1576-1578)ttfs		leucine rich repeat and Ig domain containing 4							131.0	137.0	135.0					1																	151773603		2203	4300	6503	SO:0001589	frameshift_variant	339398					integral to membrane		g.chr1:151773603delA		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1578delT	1.37:g.151773603delA	ENSP00000357810:p.Phe526fs						p.F526fs	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2515	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		526						Frame_Shift_Del	DEL	ENST00000368820.3	37	c.1578delT	CCDS30855.1																																																																																				0.582	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		12	1157						12	1157	---	---	---	---
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420|rs113617356|rs79268808		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)tgtggtdel	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578																																						ENST00000368777.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10						c.(142-147)del		late cornified envelope 4A																																				SO:0001651	inframe_deletion	199834				keratinization			g.chr1:152681693_152681698delTGTGGT	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.142_147delTGTGGT	1.37:g.152681693_152681698delTGTGGT	ENSP00000357766:p.Cys48_Gly49del					LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del	p.CG48del			Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		2	398_403	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		48			Cys-rich.		Q14D97	In_Frame_Del	DEL	ENST00000368777.1	37	c.142_147delTGTGGT	CCDS1022.1																																																																																				0.578	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		15	747						15	747	---	---	---	---
PRCC	5546	broad.mit.edu	37	1	156761536	156761536	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:156761536delC	ENST00000271526.4	+	4	1403	c.1131delC	c.(1129-1131)gtcfs	p.V377fs	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGCCCTGGTCCCCCCCCAGG	0.527			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	1	Insertion - Frameshift(1)	p.Q380fs*12(1)	lung(1)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1129-1131)gtfs		papillary renal cell carcinoma (translocation-associated)							74.0	74.0	74.0					1																	156761536		2203	4300	6503	SO:0001589	frameshift_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156761536delC	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1131delC	1.37:g.156761536delC	ENSP00000271526:p.Val377fs					PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	p.V377fs	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			4	1403	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		377					A8K1F7|O00665|O00724|Q5SZ06	Frame_Shift_Del	DEL	ENST00000271526.4	37	c.1131delC	CCDS1157.1																																																																																				0.527	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		7	517						7	517	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(901-903)del		nitric oxide synthase 1 (neuronal) adaptor protein																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	p.Q306del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1303_1305	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		8	474						8	474	---	---	---	---
ZBTB37	84614	broad.mit.edu	37	1	173835779	173835780	+	5'Flank	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:173835779_173835780insT	ENST00000367701.5	+	0	0				GAS5_ENST00000385578.2_RNA|ZBTB37_ENST00000367702.1_5'Flank|GAS5_ENST00000364822.2_RNA|GAS5-AS1_ENST00000602767.1_RNA|ZBTB37_ENST00000367704.1_5'Flank|GAS5_ENST00000363859.1_RNA|GAS5_ENST00000364084.1_RNA|GAS5_ENST00000365524.1_RNA|ZBTB37_ENST00000427304.1_5'Flank|SNORD78_ENST00000385582.1_RNA|GAS5_ENST00000363840.1_RNA|GAS5_ENST00000363146.1_RNA|ZBTB37_ENST00000432989.1_5'Flank			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GGGTGCCTCAGTTAAGATAATG	0.416																																						ENST00000363146.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr1:173835779_173835780insT	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274		1.37:g.173835781_173835781dupT	Exception_encountered							NR_003942.1						0	73_74	-								Q5TC80|Q96M87|Q9BQ88	RNA	INS	ENST00000367701.5	37		CCDS44278.1																																																																																				0.416	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		21	256						21	256	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276374	186276376	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:186276374_186276376delCCA	ENST00000445192.2	+	7	1568_1570	c.1523_1525delCCA	c.(1522-1527)cccacc>ccc	p.T511del	PRG4_ENST00000367485.4_In_Frame_Del_p.T418del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.T470del|PRG4_ENST00000367486.3_In_Frame_Del_p.T468del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	511	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P508H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAGCCTGCACCCACCACCACCAA	0.645																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.P508H(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1522-1527)ccc>c		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276374_186276376delCCA	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1523_1525delCCA	1.37:g.186276383_186276385delCCA	ENSP00000399679:p.Thr511del					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.PT467del|PRG4_ENST00000367486.3_In_Frame_Del_p.PT465del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT415del	p.PT508del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1568_1570	+			508			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1523_1525delCCA	CCDS1369.1																																																																																				0.645	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		9	1084						9	1084	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2092-2094)cafs		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)			61,4205		23,15,2095	67.0	69.0	68.0			3.8	1.0	1		69	81,8173		35,11,4081	no	frameshift	MTR	NM_000254.2		58,26,6176	A1A1,A1R,RR		0.9813,1.4299,1.1342			237024474	142,12378	2203	4300	6503	SO:0001589	frameshift_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024474delA	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2093delA	1.37:g.237024474delA	ENSP00000355536:p.Gln698fs					MTR_ENST00000535889.1_Intron	p.Q698fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2487	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	698			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Del	DEL	ENST00000366577.5	37	c.2093delA	CCDS1614.1																																																																																				0.308	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		7	424						7	424	---	---	---	---
TAF1B	9014	broad.mit.edu	37	2	9989570	9989571	+	Frame_Shift_Ins	INS	-	-	A	rs528368939		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:9989570_9989571insA	ENST00000263663.5	+	3	374_375	c.186_187insA	c.(187-189)aaafs	p.K63fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	63	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)	p.K63fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCGGGGGCTTAAAAAAAAAAA	0.337																																						ENST00000263663.5																			1	Insertion - Frameshift(1)	p.K63fs*1(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(184-189)ctaaaafs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa																																				SO:0001589	frameshift_variant	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:9989570_9989571insA	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.197dupA	2.37:g.9989581_9989581dupA	ENSP00000263663:p.Lys63fs					TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	p.LK62fs	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			3	374_375	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		62					B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Ins	INS	ENST00000263663.5	37	c.186_187insA	CCDS33143.1																																																																																				0.337	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		8	44						8	44	---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37454908	37454908	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:37454908delT	ENST00000234170.5	-	2	1573	c.1428delA	c.(1426-1428)aaafs	p.K476fs		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	476					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATTCAACATCTTTTTTTTTGA	0.368																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1426-1428)aafs		CCAAT/enhancer binding protein (C/EBP), zeta							51.0	52.0	52.0					2																	37454908		2203	4300	6503	SO:0001589	frameshift_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37454908delT	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1428delA	2.37:g.37454908delT	ENSP00000234170:p.Lys476fs						p.K476fs	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	1573	-		all_hematologic(82;0.21)	476					Q8NE75	Frame_Shift_Del	DEL	ENST00000234170.5	37	c.1428delA	CCDS1787.1																																																																																				0.368	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		8	251						8	251	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		8	607						8	607	---	---	---	---
HIBCH	26275	broad.mit.edu	37	2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:191161629delT	ENST00000359678.5	-	3	423	c.129delA	c.(127-129)aaafs	p.K43fs	HIBCH_ENST00000392332.3_Frame_Shift_Del_p.K43fs	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(127-129)aafs		3-hydroxyisobutyryl-CoA hydrolase							116.0	104.0	108.0					2																	191161629		2203	4300	6503	SO:0001589	frameshift_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161629delT	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.129delA	2.37:g.191161629delT	ENSP00000352706:p.Lys43fs					HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs	p.K43fs			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	268	-			43					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Frame_Shift_Del	DEL	ENST00000359678.5	37	c.129delA	CCDS2304.1																																																																																				0.353	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			7	292						7	292	---	---	---	---
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.101_103delAGG	c.(100-105)gaggat>gat	p.E34del	XPC_ENST00000449060.2_Splice_Site_p.E34del|LSM3_ENST00000306024.3_5'UTR	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Deletion - In frame(1)	p.E34delE(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e1+1	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C			,	315,1,3348		29,0,257,0,1,1545					,	5.2	1.0			23	706,1,7113		33,0,640,0,1,3236	no	codingComplex-near-splice,codingComplex-near-splice	XPC	NM_004628.4,NM_001145769.1	,	62,0,897,0,2,4781	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0409,8.6245,8.908	,	,		1021,2,10461				SO:0001630	splice_region_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14219966_14219968delCCT		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.103+1AGG>-	3.37:g.14219975_14219977delCCT						XPC_ENST00000449060.2_Splice_Site_p.ED34_splice|LSM3_ENST00000306024.3_5'UTR	p.ED34_splice	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			1	315_317	-			34			Glu-rich (acidic).|Poly-Glu.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Splice_Site	DEL	ENST00000285021.7	37	c.103_splice	CCDS46763.1																																																																																				0.734	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	In_Frame_Del	20	291						20	291	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs201600571|rs67589576|rs138623401	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579														3310	0.660942	0.59	0.67	5008	,	,		18145	0.7738		0.5487	False		,,,				2504	0.7495					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2				2034,1772		688,658,557						-1.3	0.0		dbSNP_119	5	3841,3927		1184,1473,1227	no	intron	GRIP2	NM_001080423.2		1872,2131,1784	A1A1,A1R,RR		49.4464,46.5581,49.2397				5875,5699						80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14555758_14555759insAGTT	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14555758_14555759insAGTT										Q9C0E4	GRIP2_HUMAN			0	1558	-								Q8TEH9|Q9H7H3	RNA	INS	ENST00000273083.3	37																																																																																						0.579	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		6	11						6	11	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90.0	87.0	88.0					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		9	452						9	452	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160143939	160143940	+	Frame_Shift_Ins	INS	-	-	A	rs202139466	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:160143939_160143940insA	ENST00000357388.3	+	17	3007_3008	c.2556_2557insA	c.(2557-2559)aaafs	p.K853fs	SMC4_ENST00000462787.1_Frame_Shift_Ins_p.K853fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.K828fs|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.K853fs|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.K853fs|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	853					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGCCCCTGACAAAAAAAAGCA	0.322																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2554-2559)gaaaaafs		structural maintenance of chromosomes 4																																				SO:0001589	frameshift_variant	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160143939_160143940insA	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2564dupA	3.37:g.160143947_160143947dupA	ENSP00000349961:p.Lys853fs					SMC4_ENST00000462787.1_Frame_Shift_Ins_p.EK852fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.EK827fs	p.EK852fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		17	3007_3008	+			852					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Frame_Shift_Ins	INS	ENST00000357388.3	37	c.2556_2557insA	CCDS3189.1																																																																																				0.322	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			7	929						7	929	---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-	rs571486674|rs145808953		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1435-1437)cfs		fibroblast growth factor receptor-like 1																																				SO:0001589	frameshift_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019055_1019056delCA		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1435_1436delCA	4.37:g.1019065_1019066delCA	ENSP00000381498:p.His479fs					FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs	p.H479fs			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	2015_2016	+			479			His-rich.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Del	DEL	ENST00000398484.2	37	c.1435_1436delCA	CCDS3344.1																																																																																				0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		8	62						8	62	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(1669-1671)atfs		prominin 1							189.0	187.0	188.0					4																	15995680		1901	4120	6021	SO:0001589	frameshift_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15995680delT	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1697delA	4.37:g.15995680delT	ENSP00000426809:p.Asn566fs					PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs	p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			15	2282	-			566					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	ENST00000510224.1	37	c.1670delA	CCDS47029.1																																																																																				0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		9	365						9	365	---	---	---	---
BMP2K	55589	broad.mit.edu	37	4	79792161	79792169	+	In_Frame_Del	DEL	CAGCACCAC	CAGCACCAC	-	rs202184856|rs200441916|rs2114202	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:79792161_79792169delCAGCACCAC	ENST00000335016.5	+	11	1622_1630	c.1456_1464delCAGCACCAC	c.(1456-1464)cagcaccacdel	p.QHH486del	BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcaccaccaccaccacc	0.488																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1456-1464)del		BMP2 inducible kinase																																				SO:0001651	inframe_deletion	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792161_79792169delCAGCACCAC	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1456_1464delCAGCACCAC	4.37:g.79792161_79792169delCAGCACCAC	ENSP00000334836:p.Gln486_His488del					BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1622_1630	+			486	Missing (in Ref. 2; CAB70863).	Q -> H (in dbSNP:rs2114202).	Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	In_Frame_Del	DEL	ENST00000335016.5	37	c.1456_1464delCAGCACCAC	CCDS47083.1																																																																																				0.488	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		11	234						11	234	---	---	---	---
RRH	10692	broad.mit.edu	37	4	110756541	110756541	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:110756541delT	ENST00000317735.4	+	3	351	c.317delT	c.(316-318)attfs	p.I106fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	106					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGATTGAATATTTTTTTTGGA	0.393																																						ENST00000317735.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12						c.(316-318)atfs		retinal pigment epithelium-derived rhodopsin homolog				67,4199		33,1,2099	139.0	134.0	136.0			5.7	1.0	4		136	92,8162		44,4,4079	no	frameshift	RRH	NM_006583.2		77,5,6178	A1A1,A1R,RR		1.1146,1.5706,1.27			110756541	159,12361	2203	4300	6503	SO:0001589	frameshift_variant	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110756541delT	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.317delT	4.37:g.110756541delT	ENSP00000314992:p.Ile106fs						p.I106fs	NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	3	351	+		Hepatocellular(203;0.217)	106					A1A4V2|Q7RTS4	Frame_Shift_Del	DEL	ENST00000317735.4	37	c.317delT	CCDS3687.1																																																																																				0.393	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		7	352						7	352	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:123302211delA	ENST00000296513.2	+	4	422	c.237delA	c.(235-237)ccafs	p.P79fs	ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	79					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(235-237)ccfs		adenosine deaminase domain containing 1 (testis-specific)							63.0	70.0	68.0					4																	123302211		2202	4300	6502	SO:0001589	frameshift_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123302211delA	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.237delA	4.37:g.123302211delA	ENSP00000296513:p.Pro79fs					ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs	p.P79fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			4	422	+			79					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Frame_Shift_Del	DEL	ENST00000296513.2	37	c.237delA	CCDS34058.1																																																																																				0.358	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		10	348						10	348	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.340	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		7	279						7	279	---	---	---	---
FHDC1	85462	broad.mit.edu	37	4	153896050	153896058	+	In_Frame_Del	DEL	CCCGCCGCT	CCCGCCGCT	-	rs61753618|rs377374100|rs35455722	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:153896050_153896058delCCCGCCGCT	ENST00000511601.1	+	12	1795_1803	c.1607_1615delCCCGCCGCT	c.(1606-1617)acccgccgctcc>acc	p.RRS537del	FHDC1_ENST00000260008.3_In_Frame_Del_p.RRS537del			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	537									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCCCCGAACACCCGCCGCTCCCGCCTCTC	0.675																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1606-1617)acc>a		FH2 domain containing 1																																				SO:0001651	inframe_deletion	85462				actin cytoskeleton organization		actin binding	g.chr4:153896050_153896058delCCCGCCGCT	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1607_1615delCCCGCCGCT	4.37:g.153896050_153896058delCCCGCCGCT	ENSP00000427567:p.Arg537_Ser539del					FHDC1_ENST00000260008.3_In_Frame_Del_p.TRRS536del	p.TRRS536del			Q9C0D6	FHDC1_HUMAN			12	1795_1803	+	all_hematologic(180;0.093)		536						In_Frame_Del	DEL	ENST00000511601.1	37	c.1607_1615delCCCGCCGCT	CCDS34081.1																																																																																				0.675	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		7	113						7	113	---	---	---	---
CEP72	55722	broad.mit.edu	37	5	640649	640651	+	In_Frame_Del	DEL	AGC	AGC	-	rs141221365		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:640649_640651delAGC	ENST00000264935.5	+	9	1559_1561	c.1469_1471delAGC	c.(1468-1473)gagcag>gag	p.Q494del	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	494					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGCCTTGCTGAGCAGCAGCAGCA	0.621																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1468-1473)gag>g		centrosomal protein 72kDa				126,4140		62,2,2069						4.2	0.1		dbSNP_134	76	220,8034		107,6,4014	no	coding	CEP72	NM_018140.3		169,8,6083	A1A1,A1R,RR		2.6654,2.9536,2.7636				346,12174				SO:0001651	inframe_deletion	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:640649_640651delAGC	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1469_1471delAGC	5.37:g.640658_640660delAGC	ENSP00000264935:p.Gln494del					CEP72_ENST00000444221.1_3'UTR	p.EQ490del	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		9	1559_1561	+			490					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	In_Frame_Del	DEL	ENST00000264935.5	37	c.1469_1471delAGC	CCDS34126.1																																																																																				0.621	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		7	390						7	390	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.H529fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1582-1587)aaacfs		PAP associated domain containing 7																																				SO:0001589	frameshift_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6755013_6755014delAC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1584_1585delAC	5.37:g.6755023_6755024delAC	ENSP00000230859:p.His529fs						p.KH528fs	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			13	1713_1714	+			528					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	ENST00000230859.6	37	c.1584_1585delAC	CCDS3871.1																																																																																				0.653	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		7	287						7	287	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-	rs376016449		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccaccc>ccc	p.131_132PP>P		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(391-396)ccc>cc		zinc finger RNA binding protein																																				SO:0001651	inframe_deletion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32419951_32419953delGGT	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.393_395delACC	5.37:g.32419960_32419962delGGT	ENSP00000265069:p.Pro133del						p.PP131del	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	3	495_497	-			131			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Del	DEL	ENST00000265069.8	37	c.393_395delACC	CCDS34139.1																																																																																				0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			7	1052						7	1052	---	---	---	---
C6	729	broad.mit.edu	37	5	41160299	41160300	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:41160299_41160300delAC	ENST00000263413.3	-	11	1892_1893	c.1628_1629delGT	c.(1627-1629)tgtfs	p.C543fs	C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	543	EGF-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCCACTCTGACACACACACAG	0.475																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1627-1629)tfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160299_41160300delAC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1628_1629delGT	5.37:g.41160307_41160308delAC	ENSP00000263413:p.Cys543fs					C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs	p.C543fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			11	1892_1893	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	543			EGF-like.			Frame_Shift_Del	DEL	ENST00000263413.3	37	c.1628_1629delGT	CCDS3936.1																																																																																				0.475	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			8	657						8	657	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	ATCCTCACCCTTTTTTTCCCT	0.418																																						ENST00000200652.3																			1	Insertion - Frameshift(1)	p.E509fs*1(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1513-1515)ctfs		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						222.0	206.0	211.0					5																	131676327		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676327delT	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1514delT	5.37:g.131676327delT	ENSP00000200652:p.Leu505fs					AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	p.L505fs	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1688	+		all_cancers(142;0.0752)|Breast(839;0.198)	505					O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1514delT	CCDS4153.1																																																																																				0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		16	1044						16	1044	---	---	---	---
JADE2	23338	broad.mit.edu	37	5	133914449	133914451	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:133914449_133914451delACC	ENST00000282605.4	+	12	2033_2035	c.1947_1949delACC	c.(1945-1950)aaacca>aaa	p.P655del	PHF15_ENST00000395003.1_In_Frame_Del_p.P611del|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_In_Frame_Del_p.P612del																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAAGAAGAAACCACCACCACCA	0.66																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(1813-1818)aaa>aa																																						SO:0001651	inframe_deletion	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914449_133914451delACC																												ENST00000282605.4:c.1947_1949delACC	5.37:g.133914458_133914460delACC	ENSP00000282605:p.Pro655del					PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_In_Frame_Del_p.KP606del|PHF15_ENST00000282605.4_In_Frame_Del_p.KP649del	p.KP605del	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1994_1996	+			605			Pro-rich.			In_Frame_Del	DEL	ENST00000282605.4	37	c.1815_1817delACC																																																																																					0.660	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			7	306						7	306	---	---	---	---
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-	rs375722663	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)acgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													T|T|-|deletion	29	0.00579073	0.0	0.0173	5008	,	,		10844	0.002		0.0139	False		,,,				2504	0.001					ENST00000542735.1																			1	Deletion - Frameshift(1)	p.T117fs*24(1)	central_nervous_system(1)	central_nervous_system(1)|prostate(4)	5						c.(349-351)cgfs		DND microRNA-mediated repression inhibitor 1							6.0	7.0	6.0					5																	140052285		2084	4099	6183	SO:0001589	frameshift_variant	373863				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	g.chr5:140052285delT	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.349delA	5.37:g.140052285delT	ENSP00000445366:p.Thr117fs						p.T117fs	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	392	-			117			RRM 1.			Frame_Shift_Del	DEL	ENST00000542735.1	37	c.349delA	CCDS4236.1																																																																																				0.682	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		10	64						10	64	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30572795	30572795	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:30572795delT	ENST00000376511.2	-	11	1482	c.930delA	c.(928-930)aaafs	p.K310fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	310	Interaction with TOX4. {ECO:0000250}.|Poly-Lys.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTGACAGTACTTTTTTTTTCT	0.448																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(928-930)aafs		protein phosphatase 1, regulatory subunit 10				101,3157		43,15,1571	48.0	58.0	54.0			5.1	1.0	6		55	200,6182		91,18,3082	no	frameshift	PPP1R10	NM_002714.2		134,33,4653	A1A1,A1R,RR		3.1338,3.1001,3.1224			30572795	301,9339	1509	2708	4217	SO:0001589	frameshift_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30572795delT	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.930delA	6.37:g.30572795delT	ENSP00000365694:p.Lys310fs						p.K310fs	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			11	1482	-			310			Interaction with TOX4 (By similarity).|Poly-Lys.		O00405	Frame_Shift_Del	DEL	ENST00000376511.2	37	c.930delA	CCDS4681.1																																																																																				0.448	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		7	312						7	312	---	---	---	---
OLIG3	167826	broad.mit.edu	37	6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	502						7	502	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:33312723delT	ENST00000242067.6	+	8	1323	c.802delT	c.(802-804)tttfs	p.F269fs	BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	269					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGAGAGAAACTTTTTTTGCCT	0.393									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(802-804)ttfs		Bardet-Biedl syndrome 9							211.0	205.0	207.0					7																	33312723		2203	4300	6503	SO:0001589	frameshift_variant	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33312723delT		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.802delT	7.37:g.33312723delT	ENSP00000242067:p.Phe269fs					BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs	p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		8	1323	+			269					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Frame_Shift_Del	DEL	ENST00000242067.6	37	c.802delT	CCDS43566.1																																																																																				0.393	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			9	688						9	688	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65171408	65171409	+	RNA	INS	-	-	TTCAGACC	rs61067766|rs201380497	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:65171408_65171409insTTCAGACC	ENST00000430126.2	+	0	1389							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		AGGTAAGCTTATTCCCTTCAAA	0.505														2214	0.442093	0.8101	0.4669	5008	,	,		8998	0.251		0.2863	False		,,,				2504	0.2843					ENST00000430126.2																			0																																																			0							g.chr7:65171408_65171409insTTCAGACC	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65171408_65171409insTTCAGACC														0	1389	+									RNA	INS	ENST00000430126.2	37																																																																																						0.505	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		8	68						8	68	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100350354	100350355	+	RNA	INS	-	-	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:100350354_100350355insA	ENST00000348028.3	+	0	2791_2792				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATCCCCACGGAAAAACTCACC	0.505																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350354_100350355insA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350359_100350359dupA						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2774_2775	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.505	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		87	691						87	691	---	---	---	---
WASL	8976	broad.mit.edu	37	7	123332873	123332875	+	In_Frame_Del	DEL	GGA	GGA	-	rs373297831		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:123332873_123332875delGGA	ENST00000223023.4	-	9	1205_1207	c.873_875delTCC	c.(871-876)cctccc>ccc	p.291_292PP>P		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	291	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gtgtggagggggaggaggaggag	0.567																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(871-876)ccc>cc		Wiskott-Aldrich syndrome-like				46,4176		1,44,2066						-10.8	0.0			50	62,8114		0,62,4026	no	coding	WASL	NM_003941.2		1,106,6092	A1A1,A1R,RR		0.7583,1.0895,0.8711				108,12290				SO:0001651	inframe_deletion	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332873_123332875delGGA	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.873_875delTCC	7.37:g.123332882_123332884delGGA	ENSP00000223023:p.Pro294del						p.PP293del	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			9	1205_1207	-			293			Pro-rich.		A1JUI9|Q7Z746	In_Frame_Del	DEL	ENST00000223023.4	37	c.873_875delTCC	CCDS34743.1																																																																																				0.567	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		10	416						10	416	---	---	---	---
TRBV7-7	28591	broad.mit.edu	37	7	142120209	142120210	+	RNA	DEL	TG	TG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:142120209_142120210delTG	ENST00000390377.1	-	0	49									T cell receptor beta variable 7-7																		cagacacacatgcatacacaca	0.436																																						ENST00000390377.1																			0																																																			0							g.chr7:142120209_142120210delTG	L36092		7q34	2012-02-07			ENSG00000253291	ENSG00000253291		"""T cell receptors / TRB locus"""	12241	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV77, TCRBV6S6A2T, TCRBV7S7			OTTHUMG00000158872		7.37:g.142120209_142120210delTG														0	49	-									RNA	DEL	ENST00000390377.1	37																																																																																						0.436	TRBV7-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352480.1	NG_001333		7	396						7	396	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481923	142481925	+	RNA	DEL	CAA	CAA	-	rs201697815		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:142481923_142481925delCAA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GTGATTAGACCAACCCTTCCCAT	0.537																																						ENST00000603901.1																			0																																																			0							g.chr7:142481923_142481925delCAA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481923_142481925delCAA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.537	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		27	253						27	253	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-	rs370076329		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGCAGTGCCCACATGGAGAAG	0.572																																						ENST00000603901.1																			0																																																			0							g.chr7:142482025delA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482025delA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		9	59						9	59	---	---	---	---
USP17L2	377630	broad.mit.edu	37	8	11994579	11994580	+	IGR	DEL	TG	TG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:11994579_11994580delTG	ENST00000333796.3	-	0	1910				FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2						apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGTTCgtgtttgtgtgtgtgtg	0.505																																						ENST00000434078.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr8:11994579_11994580delTG	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295		8.37:g.11994589_11994590delTG								NR_027425.1						0	608	+									RNA	DEL	ENST00000333796.3	37		CCDS43713.1																																																																																				0.505	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		10	122						10	122	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22020159	22020161	+	5'Flank	DEL	GTG	GTG	-	rs183533911	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:22020159_22020161delGTG	ENST00000306385.5	+	0	0				SFTPC_ENST00000521315.1_In_Frame_Del_p.V44del|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000397816.3_5'Flank|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000520605.1_Intron	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTTCTTATCGTGGTGGTGGTGG	0.601																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(115-117)del		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020159_22020161delGTG		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020168_22020170delGTG	Exception_encountered					SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron	p.V44del			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	147_149	+			44					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	In_Frame_Del	DEL	ENST00000306385.5	37	c.115_117delGTG	CCDS6026.1																																																																																				0.601	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		11	669						11	669	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:94486026_94486028delTCC	ENST00000375708.3	-	9	2946_2948	c.2748_2750delGGA	c.(2746-2751)gaggaa>gaa	p.916_917EE>E	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2746-2751)gaa>ga		receptor tyrosine kinase-like orphan receptor 2																																				SO:0001651	inframe_deletion	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486026_94486028delTCC	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2748_2750delGGA	9.37:g.94486035_94486037delTCC	ENSP00000364860:p.Glu917del					ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	p.EE916del	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2946_2948	-			916					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	In_Frame_Del	DEL	ENST00000375708.3	37	c.2748_2750delGGA	CCDS6691.1																																																																																				0.645	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			8	665						8	665	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	TCC	-	rs137929518	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:95277146_95277148delTCC	ENST00000344604.5	-	4	968_970	c.819_821delGGA	c.(817-822)gaggat>gat	p.E273del	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.E251del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ctcctcctcatcctcctcctcct	0.606																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(817-822)gat>ga		extracellular matrix protein 2, female organ and adipocyte specific																																				SO:0001651	inframe_deletion	1842				cell-matrix adhesion		integrin binding	g.chr9:95277146_95277148delTCC	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.819_821delGGA	9.37:g.95277155_95277157delTCC	ENSP00000344758:p.Glu273del					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del	p.ED273del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	968_970	-			273			Poly-Glu.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	In_Frame_Del	DEL	ENST00000344604.5	37	c.819_821delGGA	CCDS6698.1																																																																																				0.606	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		8	835						8	835	---	---	---	---
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			10	335						10	335	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:61828745_61828747delGTG	ENST00000280772.2	-	37	12083_12085	c.11892_11894delCAC	c.(11890-11895)accact>act	p.3964_3965TT>T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3964	Thr-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11890-11895)act>ac		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001651	inframe_deletion	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828745_61828747delGTG	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11892_11894delCAC	10.37:g.61828754_61828756delGTG	ENSP00000280772:p.Thr3965del					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.TT3964del	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12083_12085	-			3964			Thr-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	In_Frame_Del	DEL	ENST00000280772.2	37	c.11892_11894delCAC	CCDS7258.1																																																																																				0.498	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		9	630						9	630	---	---	---	---
RTKN2	219790	broad.mit.edu	37	10	63958148	63958149	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:63958148_63958149insT	ENST00000373789.3	-	12	1444_1445	c.1348_1349insA	c.(1348-1350)attfs	p.I450fs	RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.I252fs|RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.I471fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I450fs*67(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TGTCTCTTCAATTTTTTTTTGT	0.337																																						ENST00000373789.3																			1	Deletion - Frameshift(1)	p.I450fs*67(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1348-1350)tgafs		rhotekin 2				11,4247		0,11,2118						4.1	1.0			63	5,8243		0,5,4119	no	frameshift	RTKN2	NM_145307.2		0,16,6237	A1A1,A1R,RR		0.0606,0.2583,0.1279				16,12490				SO:0001589	frameshift_variant	219790				signal transduction	intracellular		g.chr10:63958148_63958149insT	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1349dupA	10.37:g.63958157_63958157dupT	ENSP00000362894:p.Ile450fs					RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.*471fs|RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.*252fs	p.*450fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			12	1444_1445	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		450					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Frame_Shift_Ins	INS	ENST00000373789.3	37	c.1348_1349insA	CCDS7263.1																																																																																				0.337	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		7	315						7	315	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64952699	64952699	+	Splice_Site	DEL	T	T	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:64952699delT	ENST00000399262.2	-	16	6293	c.6075delA	c.(6073-6075)aaa>aa	p.K2025fs	JMJD1C_ENST00000542921.1_Splice_Site_p.K1843fs|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788fs|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2025					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TATGTTTACCTTTTTTTTCCT	0.373																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.e16+1		jumonji domain containing 1C							153.0	141.0	145.0					10																	64952699		1873	4104	5977	SO:0001630	splice_region_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64952699delT	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6076+1A>-	10.37:g.64952699delT						JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice	p.K2025_splice	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			16	6293	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2025					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Splice_Site	DEL	ENST00000399262.2	37	c.6076_splice	CCDS41532.1																																																																																				0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	Frame_Shift_Del	7	435						7	435	---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:70156583delT	ENST00000602465.1	-	4	452	c.352delA	c.(352-354)atgfs	p.M118fs	RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000388768.2_Frame_Shift_Del_p.M153fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000472394.2_5'UTR			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(457-459)tgfs		RUN and FYVE domain containing 2							81.0	80.0	81.0					10																	70156583		1832	4087	5919	SO:0001589	frameshift_variant	55680					nucleus	metal ion binding	g.chr10:70156583delT	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.352delA	10.37:g.70156583delT	ENSP00000473462:p.Met118fs					RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000399200.2_Intron	p.M153fs	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			4	783	-			167			RUN.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Frame_Shift_Del	DEL	ENST00000602465.1	37	c.457delA																																																																																					0.398	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		10	301						10	301	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81052021	81052023	+	In_Frame_Del	DEL	GCA	GCA	-	rs551280800		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:81052021_81052023delGCA	ENST00000334512.5	+	11	1437_1439	c.865_867delGCA	c.(865-867)gcadel	p.A293del	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	293	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			agcggcagtggcagcagcagcag	0.65																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(865-867)del		zinc finger, MIZ-type containing 1																																				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81052021_81052023delGCA	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.865_867delGCA	10.37:g.81052030_81052032delGCA	ENSP00000334474:p.Ala293del					ZMIZ1_ENST00000478357.1_3'UTR	p.A293del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1437_1439	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		293			Ala-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.865_867delGCA	CCDS7357.1																																																																																				0.650	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		9	726						9	726	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(3142-3144)gafs		zinc finger, MIZ-type containing 1							193.0	181.0	185.0					10																	81072446		2203	4300	6503	SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81072446delC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3144delC	10.37:g.81072446delC	ENSP00000334474:p.Asp1048fs					ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	p.D1048fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		25	3716	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1048					Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.3144delC	CCDS7357.1																																																																																				0.557	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		7	1518						7	1518	---	---	---	---
C10orf82	143379	broad.mit.edu	37	10	118424338	118424338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:118424338delT	ENST00000369210.3	-	4	449	c.395delA	c.(394-396)aacfs	p.N132fs	C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	132										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CTTGTAGCAGTTTTTGGCCAT	0.567																																						ENST00000369210.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(394-396)acfs		chromosome 10 open reading frame 82							158.0	140.0	146.0					10																	118424338		2203	4300	6503	SO:0001589	frameshift_variant	143379							g.chr10:118424338delT	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.395delA	10.37:g.118424338delT	ENSP00000358212:p.Asn132fs					C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs	p.N132fs	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN		all cancers(201;0.0143)	4	449	-			132					B3KUM9|D3DRC3	Frame_Shift_Del	DEL	ENST00000369210.3	37	c.395delA	CCDS7596.1																																																																																				0.567	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661		8	781						8	781	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	TCC	-	rs370763825|rs145320037		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:6432090_6432092delTCC	ENST00000609360.1	-	2	585_587	c.486_488delGGA	c.(484-489)gaggat>gat	p.E162del	APBB1_ENST00000299402.6_In_Frame_Del_p.E162del|APBB1_ENST00000389906.2_In_Frame_Del_p.E162del|APBB1_ENST00000311051.3_In_Frame_Del_p.E162del	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - Missense(1)	p.E162D(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(484-489)gat>ga		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)																																				SO:0001651	inframe_deletion	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432090_6432092delTCC	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.486_488delGGA	11.37:g.6432099_6432101delTCC	ENSP00000477213:p.Glu162del					APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del	p.ED162del	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	585_587	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	162			Glu-rich.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	In_Frame_Del	DEL	ENST00000609360.1	37	c.486_488delGGA																																																																																					0.635	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		9	281						9	281	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:19901475_19901477delAGC	ENST00000396087.3	+	5	671_673	c.572_574delAGC	c.(571-576)aagcag>aag	p.Q196del	NAV2_ENST00000540292.1_In_Frame_Del_p.Q127del|NAV2_ENST00000396085.1_In_Frame_Del_p.Q196del|NAV2_ENST00000527559.2_In_Frame_Del_p.Q125del|NAV2_ENST00000349880.4_In_Frame_Del_p.Q196del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000360655.4_In_Frame_Del_p.Q132del	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	196	Gln-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCGATACAagcagcagcagca	0.611																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(571-576)aag>a		neuron navigator 2			,,	52,4210		4,44,2083					,,	5.9	1.0			68	58,8184		2,54,4065	no	coding,coding,coding	NAV2	NM_182964.5,NM_145117.4,NM_001111018.1	,,	6,98,6148	A1A1,A1R,RR		0.7037,1.2201,0.8797	,,	,,		110,12394				SO:0001651	inframe_deletion	89797					nucleus	ATP binding|helicase activity	g.chr11:19901475_19901477delAGC	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.572_574delAGC	11.37:g.19901484_19901486delAGC	ENSP00000379396:p.Gln196del					NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del	p.KQ191del	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			5	933_935	+			191			CH.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	In_Frame_Del	DEL	ENST00000396087.3	37	c.572_574delAGC	CCDS58126.1																																																																																				0.611	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		10	560						10	560	---	---	---	---
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-	rs149062181		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616																																						ENST00000527881.1																			0				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12						c.(13-15)del		tsukushi, small leucine rich proteoglycan																																				SO:0001651	inframe_deletion	25987					extracellular region		g.chr11:76506673_76506675delCTG	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.13_15delCTG	11.37:g.76506682_76506684delCTG	ENSP00000434847:p.Leu9del					TSKU_ENST00000333090.4_In_Frame_Del_p.L9del	p.L9del			Q8WUA8	TSK_HUMAN			2	1039_1041	+	Ovarian(111;0.112)		9					B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	In_Frame_Del	DEL	ENST00000527881.1	37	c.13_15delCTG	CCDS8246.1																																																																																				0.616	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		16	380						16	380	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs112457531|rs5794199|rs199886633|rs68192524		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TGAGGAACAAGTGGTGCCTAAG	0.416																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738793_102738794insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738794_102738794dupT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	727_728	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		8	46						8	46	---	---	---	---
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tatgat>tat	p.D460del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	460	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		1	Deletion - In frame(1)	p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(1363-1368)tat>t		Cbl proto-oncogene, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119149356_119149358delATG	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1364_1366delATG	11.37:g.119149365_119149367delATG	ENSP00000264033:p.Asp460del						p.YD455del	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	9	1740_1742	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	455			Asp/Glu-rich (acidic).		A3KMP8	In_Frame_Del	DEL	ENST00000264033.4	37	c.1364_1366delATG	CCDS8418.1																																																																																				0.473	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		7	347						7	347	---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-	rs539461545|rs375181781|rs369523216		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																						ENST00000264025.3																			1	Deletion - Frameshift(1)	p.E444fs*>73(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1330-1335)ggc>g		poliovirus receptor-related 1 (herpesvirus entry mediator C)																																				SO:0001651	inframe_deletion	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535678_119535680delCCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del					PVRL1_ENST00000341398.2_Intron	p.EG444del	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1861_1863	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	444			Poly-Glu.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	ENST00000264025.3	37	c.1331_1333delAGG	CCDS8426.1																																																																																				0.660	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			8	218						8	218	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	116	0.0231629	0.084	0.0058	5008	,	,		21496	0.0		0.001	False		,,,				2504	0.0					ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(301-306)ctttttfs		olfactory receptor, family 8, subfamily D, member 4				222,0,4042		5,0,212,0,0,1915						-6.5	0.6		dbSNP_131	230	2,2,8250		0,0,2,0,2,4123	no	codingComplex	OR8D4	NM_001005197.1		5,0,214,0,2,6038	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,5.2064,1.8054				224,2,12292				SO:0001589	frameshift_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777441_123777442insT	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.311dupT	11.37:g.123777449_123777449dupT	ENSP00000325381:p.Phe102fs						p.LF101fs	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	333_334	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	101					Q6IFE9	Frame_Shift_Ins	INS	ENST00000321355.2	37	c.303_304insT	CCDS31698.1																																																																																				0.436	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		7	1262						7	1262	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(520-522)ccfs		fatty acyl CoA reductase 2							108.0	116.0	113.0					12																	29450110		2203	4300	6503	SO:0001589	frameshift_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29450110delA	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.522delA	12.37:g.29450110delA	ENSP00000443291:p.Pro174fs					FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs	p.P174fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			4	790	+			174					F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Del	DEL	ENST00000536681.3	37	c.522delA	CCDS8717.1																																																																																				0.388	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		10	642						10	642	---	---	---	---
SLC39A5	283375	broad.mit.edu	37	12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:56628997_56628999delCTG	ENST00000266980.4	+	5	984_986	c.691_693delCTG	c.(691-693)ctgdel	p.L234del	SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	234					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635																																						ENST00000266980.4																			0				NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(691-693)del		solute carrier family 39 (zinc transporter), member 5																																				SO:0001651	inframe_deletion	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56628997_56628999delCTG		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.691_693delCTG	12.37:g.56629006_56629008delCTG	ENSP00000266980:p.Leu234del					SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del	p.L234del	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			5	984_986	+			234					B2R808|Q8N6Y3	In_Frame_Del	DEL	ENST00000266980.4	37	c.691_693delCTG	CCDS8912.2																																																																																				0.635	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		8	1243						8	1243	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101680156	101680157	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:101680156_101680157insT	ENST00000261637.4	+	5	558_559	c.384_385insT	c.(385-387)tttfs	p.F129fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	129					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTTTCCAGAGTTTTTTTTGAC	0.396																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(382-387)gattttfs		UTP20, small subunit (SSU) processome component, homolog (yeast)																																				SO:0001589	frameshift_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101680156_101680157insT	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.392dupT	12.37:g.101680164_101680164dupT	ENSP00000261637:p.Phe129fs						p.DF128fs	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			5	558_559	+			128					Q9H3H4	Frame_Shift_Ins	INS	ENST00000261637.4	37	c.384_385insT	CCDS9081.1																																																																																				0.396	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		7	951						7	951	---	---	---	---
ATXN2	6311	broad.mit.edu	37	12	112036754	112036756	+	In_Frame_Del	DEL	GCT	GCT	-	rs200089873|rs10560189|rs67658094	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:112036754_112036756delGCT	ENST00000377617.3	-	1	724_726	c.563_565delAGC	c.(562-567)cagccg>ccg	p.Q188del	ATXN2_ENST00000608853.1_In_Frame_Del_p.Q28del|ATXN2_ENST00000389153.4_5'Flank|ATXN2_ENST00000542287.2_Intron|ATXN2_ENST00000550104.1_In_Frame_Del_p.Q188del|RP11-686G8.2_ENST00000547021.1_RNA|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000535949.1_Intron	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	188				Missing (in Ref. 1; AAB19200 and 5; CAA69589). {ECO:0000305}.	cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GCGGGCGGCGgctgctgctgctg	0.709														4763	0.951078	0.8729	0.9438	5008	,	,		4679	1.0		0.9682	False		,,,				2504	0.9939					ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(562-567)ccg>c		ataxin 2				330,50		162,6,22						-6.2	0.3		dbSNP_119	1	1419,127		701,17,55	no	coding	ATXN2	NM_002973.3		863,23,77	A1A1,A1R,RR		8.2147,13.1579,9.19				1749,177				SO:0001651	inframe_deletion	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:112036754_112036756delGCT	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.563_565delAGC	12.37:g.112036763_112036765delGCT	ENSP00000366843:p.Gln188del					ATXN2_ENST00000550104.1_In_Frame_Del_p.QP188del|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000542287.2_Intron	p.QP188del	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			1	724_726	-			188	Missing (in Ref. 1; AAB19200 and 5; CAA69589).				A6NLD4|Q6ZQZ7|Q99493	In_Frame_Del	DEL	ENST00000377617.3	37	c.563_565delAGC	CCDS31902.1																																																																																				0.709	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		9	3						9	3	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	RP11-173P15.3_ENST00000535720.1_RNA|RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_In_Frame_Del_p.K159del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		18	871						18	871	---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		8	384						8	384	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			7	34						7	34	---	---	---	---
RXFP2	122042	broad.mit.edu	37	13	32376429	32376429	+	Frame_Shift_Del	DEL	A	A	-	rs200447228		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr13:32376429delA	ENST00000298386.2	+	18	2223	c.2152delA	c.(2152-2154)aaafs	p.K720fs	RXFP2_ENST00000380314.1_Frame_Shift_Del_p.K696fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	720					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTTCAAAATTAAAAAAAAAAG	0.348																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(2152-2154)aafs		relaxin/insulin-like family peptide receptor 2							100.0	110.0	107.0					13																	32376429		2203	4300	6503	SO:0001589	frameshift_variant	122042					integral to membrane|plasma membrane		g.chr13:32376429delA	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.2152delA	13.37:g.32376429delA	ENSP00000298386:p.Lys720fs					RXFP2_ENST00000380314.1_Frame_Shift_Del_p.K696fs	p.K720fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	18	2223	+		Lung SC(185;0.0262)	720					B1ALE9|Q3KU23	Frame_Shift_Del	DEL	ENST00000298386.2	37	c.2152delA	CCDS9342.1																																																																																				0.348	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		17	660						17	660	---	---	---	---
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr13:95696016delT	ENST00000376887.4	-	29	3769	c.3655delA	c.(3655-3657)atcfs	p.I1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTCTCCCGGATTTTTTTTTGT	0.378																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3655-3657)tcfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						105.0	104.0	104.0					13																	95696016		2203	4300	6503	SO:0001589	frameshift_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95696016delT	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3655delA	13.37:g.95696016delT	ENSP00000366084:p.Ile1219fs					ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	p.I1219fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			29	3769	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1219			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Frame_Shift_Del	DEL	ENST00000376887.4	37	c.3655delA	CCDS9474.1																																																																																				0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		10	389						10	389	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103524612	103524612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr13:103524612delA	ENST00000355739.4	+	13	4166	c.2743delA	c.(2743-2745)aaafs	p.K917fs	ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs|BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.E1340fs	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	917					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCAAAGTGAAAAAAAAATT	0.428			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2743-2745)aafs	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							79.0	77.0	77.0					13																	103524612		2203	4300	6503	SO:0001589	frameshift_variant	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103524612delA	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2743delA	13.37:g.103524612delA	ENSP00000347978:p.Lys917fs					ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs|BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs	p.K917fs	NM_000123.3	NP_000114.2					13	4166	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Frame_Shift_Del	DEL	ENST00000355739.4	37	c.2743delA	CCDS32004.1																																																																																				0.428	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			7	299						7	299	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4390-4392)del		signal-induced proliferation-associated 1 like 1																																				SO:0001651	inframe_deletion	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190482_72190484delTCC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4390_4392delTCC	14.37:g.72190491_72190493delTCC	ENSP00000450832:p.Ser1468del					SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del	p.S1468del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4738_4740	+			1468			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	In_Frame_Del	DEL	ENST00000555818.1	37	c.4390_4392delTCC	CCDS9807.1																																																																																				0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		8	690						8	690	---	---	---	---
BEGAIN	57596	broad.mit.edu	37	14	101005271	101005273	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:101005271_101005273delCCT	ENST00000355173.2	-	7	886_888	c.815_817delAGG	c.(814-819)gaggcc>gcc	p.E272del	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_In_Frame_Del_p.E272del|BEGAIN_ENST00000556751.1_In_Frame_Del_p.E208del	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	272						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCCTCGGCCTCCTCCTCCTC	0.724																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(622-627)gcc>g		brain-enriched guanylate kinase-associated																																				SO:0001651	inframe_deletion	57596					cytoplasm|membrane	protein binding	g.chr14:101005271_101005273delCCT	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.815_817delAGG	14.37:g.101005280_101005282delCCT	ENSP00000347301:p.Glu272del					BEGAIN_ENST00000355173.2_In_Frame_Del_p.EA274del|BEGAIN_ENST00000443071.2_In_Frame_Del_p.EA274del	p.EA210del			Q9BUH8	BEGIN_HUMAN			5	4027_4029	-		Melanoma(154;0.212)	274					Q9NPU3|Q9P282	In_Frame_Del	DEL	ENST00000355173.2	37	c.623_625delAGG	CCDS9962.1																																																																																				0.724	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		8	140						8	140	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28200305	28200305	+	Splice_Site	DEL	T	T	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:28200305delT	ENST00000354638.3	-	17	1996	c.1841delA	c.(1840-1842)aag>ag	p.K614fs	OCA2_ENST00000382996.2_Splice_Site_p.K614fs|OCA2_ENST00000353809.5_Splice_Site_p.K590fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	614			K -> E (in OCA2). {ECO:0000269|PubMed:10987646}.|K -> N (in OCA2).		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGGGTACCTTTTTTTGGAG	0.443									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85	GRCh37	CD000269	OCA2	D		c.e17+1		oculocutaneous albinism II							224.0	217.0	219.0					15																	28200305		2203	4300	6503	SO:0001630	splice_region_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28200305delT		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1842+1A>-	15.37:g.28200305delT						OCA2_ENST00000353809.5_Splice_Site_p.K590_splice|OCA2_ENST00000382996.2_Splice_Site_p.K614_splice	p.K614_splice	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	17	1996	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	614		K -> E (in OCA2).|K -> N (in OCA2).			Q15211|Q15212|Q96EN1|Q9UMI5	Splice_Site	DEL	ENST00000354638.3	37	c.1842_splice	CCDS10020.1																																																																																				0.443	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	Frame_Shift_Del	7	809						7	809	---	---	---	---
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-	rs371085676|rs377432895	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14-AS1_ENST00000504245.1_lincRNA	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		10	387						10	387	---	---	---	---
LOC645752	645752	broad.mit.edu	37	15	78208889	78208891	+	lincRNA	DEL	CCT	CCT	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:78208889_78208891delCCT	ENST00000565869.1	+	0	26_28				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							GGCCGAGGCGCCTCCTCCTCCTC	0.635																																						ENST00000565869.1																			0																																																			0							g.chr15:78208889_78208891delCCT																													15.37:g.78208898_78208900delCCT														0	26_28	+									RNA	DEL	ENST00000565869.1	37																																																																																						0.635	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	523						7	523	---	---	---	---
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-	rs376357384	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1																		tttttaaactaaaaaaaaaaa	0.373													|||unknown(NO_COVERAGE)	2110	0.421326	0.4274	0.4049	5008	,	,		13748	0.4395		0.4095	False		,,,				2504	0.4182					ENST00000339094.1																			0																																																			0							g.chr15:85077360delA			15q25.2	2013-11-05	2009-12-17	2009-12-17	ENSG00000189136	ENSG00000189136			37439	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 1"""	UBE2QP1			Standard	NR_003661		Approved	FLJ43276	uc002bkn.1		OTTHUMG00000148662		15.37:g.85077360delA								NR_003661.2						0	1678	-									RNA	DEL	ENST00000339094.1	37																																																																																						0.373	UBE2Q2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000308970.2	NR_003661		11	36						11	36	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	lincRNA	DEL	C	C	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433																																						ENST00000543286.1																			0																																																			0							g.chr15:93974510delC																													15.37:g.93974510delC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.433	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			13	153						13	153	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		8	14						8	14	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		8	1315						8	1315	---	---	---	---
RP11-51O6.1	0	broad.mit.edu	37	16	61089302	61089302	+	RNA	DEL	C	C	-	rs567241949|rs56076856|rs371501468|rs61593494|rs201948984|rs78942570|rs572952892	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:61089302delC	ENST00000591758.1	-	0	566																											GCttcttcttctttttttttt	0.244																																						ENST00000591758.1																			0																																																			0							g.chr16:61089302delC																													16.37:g.61089302delC														0	566	-									RNA	DEL	ENST00000591758.1	37																																																																																						0.244	RP11-51O6.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000460612.1			7	95						7	95	---	---	---	---
CTRL	1506	broad.mit.edu	37	16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)aacfs	p.N238fs	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552																																						ENST00000574481.1																			0				kidney(1)|large_intestine(2)|urinary_tract(1)	4						c.(712-714)acfs		chymotrypsin-like							139.0	137.0	138.0					16																	67963919		2198	4300	6498	SO:0001589	frameshift_variant	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67963919delT		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.713delA	16.37:g.67963919delT	ENSP00000458537:p.Asn238fs						p.N238fs	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	7	1274	-		Ovarian(137;0.192)	238			Peptidase S1.			Frame_Shift_Del	DEL	ENST00000574481.1	37	c.713delA	CCDS10852.1																																																																																				0.552	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			8	695						8	695	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72991716	72991718	+	In_Frame_Del	DEL	CCG	CCG	-	rs544025035|rs576903188	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:72991716_72991718delCCG	ENST00000268489.5	-	2	2999_3001	c.2327_2329delCGG	c.(2326-2331)gcggtg>gtg	p.A776del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	776	Poly-Ala.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgcagccaccgccgccgccgc	0.635																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2326-2331)gtg>g		zinc finger homeobox 3																																				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991716_72991718delCCG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2327_2329delCGG	16.37:g.72991725_72991727delCCG	ENSP00000268489:p.Ala776del					ZFHX3_ENST00000397992.5_Intron	p.AV776del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	2999_3001	-		Ovarian(137;0.13)	776			Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2327_2329delCGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	724						7	724	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-	rs376204328		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|MPDU1_ENST00000423172.2_3'UTR|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000538513.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1771-1776)cgt>cg		fragile X mental retardation, autosomal homolog 2																																				SO:0001651	inframe_deletion	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495872_7495874delCGG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1773_1775delCCG	17.37:g.7495881_7495883delCGG	ENSP00000250113:p.Arg592del					MPDU1_ENST00000423172.2_3'UTR	p.RR591del	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	2107_2109	-			591		R -> P (in dbSNP:rs36013555).	Poly-Arg.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	In_Frame_Del	DEL	ENST00000250113.7	37	c.1773_1775delCCG	CCDS45604.1																																																																																				0.547	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			9	1262						9	1262	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7751859	7751861	+	In_Frame_Del	DEL	CAC	CAC	-	rs59627144|rs377654044	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:7751859_7751861delCAC	ENST00000448097.2	+	11	2584_2586	c.2253_2255delCAC	c.(2251-2256)gtcacc>gtc	p.T762del	KDM6B_ENST00000254846.5_In_Frame_Del_p.T762del			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	762	Pro-rich.|Thr-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGTCGCCGTcaccaccaccacc	0.65																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2251-2256)gtc>gt		lysine (K)-specific demethylase 6B																																				SO:0001651	inframe_deletion	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751859_7751861delCAC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2253_2255delCAC	17.37:g.7751868_7751870delCAC	ENSP00000412513:p.Thr762del					KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del	p.VT751del	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2642_2644	+			751			Pro-rich.|Thr-rich.		C9IZ40|Q96G33	In_Frame_Del	DEL	ENST00000448097.2	37	c.2253_2255delCAC																																																																																					0.650	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		8	203						8	203	---	---	---	---
MIEF2	125170	broad.mit.edu	37	17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cggctg>cgg	p.L360del	MIEF2_ENST00000395706.2_In_Frame_Del_p.L371del|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	360					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.L356R(1)									CTCGCCGGCGGCTGCTGCTGCTG	0.685																																						ENST00000323019.4																			1	Substitution - Missense(1)	p.L356R(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1063-1068)cgg>cg																																						SO:0001651	inframe_deletion	0					integral to membrane	protein binding	g.chr17:18167778_18167780delGCT	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1065_1067delGCT	17.37:g.18167787_18167789delGCT	ENSP00000323591:p.Leu360del					SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del	p.RL355del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1276_1278	+	all_neural(463;0.228)		355					J3KPT3|Q6ZRD4|Q96N07	In_Frame_Del	DEL	ENST00000323019.4	37	c.1065_1067delGCT	CCDS11193.1																																																																																				0.685	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		8	401						8	401	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		25	476						25	476	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44109630	44109631	+	Frame_Shift_Ins	INS	-	-	G	rs147378906		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:44109630_44109631insG	ENST00000262419.6	-	14	3342_3343	c.2872_2873insC	c.(2872-2874)cagfs	p.Q958fs	KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.Q958fs|KANSL1_ENST00000393476.3_Frame_Shift_Ins_p.Q252fs|KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.Q958fs|KANSL1_ENST00000575318.1_Frame_Shift_Ins_p.Q894fs|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.Q958fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	958	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											ACTGCCCAGCTGGGGGGTTGTC	0.579																																						ENST00000262419.6																			0											c.(2872-2874)gctfs		KAT8 regulatory NSL complex subunit 1																																				SO:0001589	frameshift_variant	284058					MLL1 complex	protein binding	g.chr17:44109630_44109631insG	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2873dupC	17.37:g.44109636_44109636dupG	ENSP00000262419:p.Gln958fs					KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.A958fs|KANSL1_ENST00000393476.3_Frame_Shift_Ins_p.A252fs|KANSL1_ENST00000575318.1_Frame_Shift_Ins_p.A894fs|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.A958fs|KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.A958fs	p.A958fs	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			14	3342_3343	-			958					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Ins	INS	ENST00000262419.6	37	c.2872_2873insC	CCDS11503.1																																																																																				0.579	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		54	415						54	415	---	---	---	---
HOXB2	3212	broad.mit.edu	37	17	46622130	46622132	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:46622130_46622132delAGG	ENST00000330070.4	-	1	1309_1311	c.142_144delCCT	c.(142-144)cctdel	p.P48del	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB2_ENST00000504772.3_5'Flank	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	48					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TTTGCTCGAAAGGAGGAGGAGGA	0.596																																						ENST00000330070.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(142-144)del		homeobox B2																																				SO:0001651	inframe_deletion	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46622130_46622132delAGG		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.142_144delCCT	17.37:g.46622139_46622141delAGG	ENSP00000331741:p.Pro48del					HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA	p.P48del	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			1	1309_1311	-			48					P10913|P17485	In_Frame_Del	DEL	ENST00000330070.4	37	c.142_144delCCT	CCDS11527.1																																																																																				0.596	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			7	507						7	507	---	---	---	---
TOB1	10140	broad.mit.edu	37	17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:48940610_48940612delGTG	ENST00000268957.3	-	3	1195_1197	c.767_769delCAC	c.(766-771)ccacag>cag	p.P256del	TOB1_ENST00000499247.2_In_Frame_Del_p.P256del|TOB1_ENST00000509385.1_5'Flank	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517																																					NSCLC(144;643 1919 24513 29423 40686)	ENST00000499247.2																			0				breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(766-771)cag>c		transducer of ERBB2, 1																																				SO:0001651	inframe_deletion	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940610_48940612delGTG	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.767_769delCAC	17.37:g.48940619_48940621delGTG	ENSP00000268957:p.Pro256del					TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1200_1202	-			256			Poly-Pro.		B2R9T0|D3DTY3|Q4KMQ0	In_Frame_Del	DEL	ENST00000268957.3	37	c.767_769delCAC	CCDS11576.1																																																																																				0.517	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			11	265						11	265	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354|rs73995411|rs57786397|rs369163670	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:56056605_56056607delTGC	ENST00000581208.1	-	5	1084_1086	c.1044_1046delGCA	c.(1042-1047)cagcaa>caa	p.348_349QQ>Q	VEZF1_ENST00000584396.1_In_Frame_Del_p.339_340QQ>Q	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	348	Poly-Gln.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1015-1020)caa>ca		vascular endothelial zinc finger 1																																				SO:0001651	inframe_deletion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056605_56056607delTGC	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1044_1046delGCA	17.37:g.56056614_56056616delTGC	ENSP00000462337:p.Gln354del					VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del	p.QQ343del			Q14119	VEZF1_HUMAN			5	1105_1107	-			352			Poly-Gln.			In_Frame_Del	DEL	ENST00000581208.1	37	c.1017_1019delGCA	CCDS32687.1																																																																																				0.463	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			13	1040						13	1040	---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61899155	61899157	+	IGR	DEL	CTC	CTC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:61899155_61899157delCTC	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_In_Frame_Del_p.E508del	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GCAGTGGATTCTCCTCCTCCTCC	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1522-1524)del		FtsJ homolog 3 (E. coli)				1,4263		0,1,2131						5.2	1.0			197	2,8252		0,2,4125	no	coding	FTSJ3	NM_017647.3		0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61899155_61899157delCTC	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899164_61899166delCTC							p.E508del	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			15	2167_2169	-			508					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	In_Frame_Del	DEL	ENST00000578681.1	37	c.1522_1524delGAG	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		9	1116						9	1116	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112404	112407	+	RNA	DEL	CCAC	CCAC	-	rs111811281		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:112404_112407delCCAC	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CTGCCCCGAACCACCCGACCCCGT	0.716																																						ENST00000576266.1																			0																																																			0							g.chr18:112404_112407delCCAC			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112404_112407delCCAC														0	38_41	+									RNA	DEL	ENST00000608049.1	37																																																																																						0.716	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			10	53						10	53	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48584825	48584826	+	Splice_Site	INS	-	-	TG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:48584825_48584826insTG	ENST00000342988.3	+	7	1441_1442	c.903_904insTG	c.(904-906)tgg>TGtgg	p.W302fs	SMAD4_ENST00000398417.2_Splice_Site_p.W302fs|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	302	SAD.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.W302R(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCGGACATTACTGTAAGCTCTT	0.411																																						ENST00000342988.3																			39	Whole gene deletion(36)|Unknown(2)|Substitution - Missense(1)	p.0?(36)|p.?(2)|p.W302R(1)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.e7+1		SMAD family member 4																																				SO:0001630	splice_region_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48584825_48584826insTG	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.904+1->TG	18.37:g.48584826_48584827dupTG						SMAD4_ENST00000398417.2_Splice_Site_p.*A301_splice|SMAD4_ENST00000588745.1_Intron	p.*A301_splice	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	7	1441_1442	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	301			SAD.		A8K405	Splice_Site	INS	ENST00000342988.3	37	c.904_splice	CCDS11950.1																																																																																				0.411	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	Frame_Shift_Ins	52	361						52	361	---	---	---	---
CNN2	1265	broad.mit.edu	37	19	1037646	1037646	+	Frame_Shift_Del	DEL	C	C	-	rs371146424		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:1037646delC	ENST00000263097.4	+	7	1040	c.677delC	c.(676-678)accfs	p.T226fs	CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|CNN2_ENST00000606983.1_3'UTR|AC011558.5_ENST00000585757.1_RNA|ABCA7_ENST00000263094.6_5'Flank	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	226					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCCGGGACCCGGCGGCAC	0.632																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(676-678)acfs		calponin 2			,	229,3873		14,201,1836	77.0	90.0	86.0		,	4.3	1.0	19		87	311,7625		16,279,3673	no	frameshift,frameshift	CNN2	NM_201277.1,NM_004368.2	,	30,480,5509	A1A1,A1R,RR		3.9189,5.5826,4.4858	,	,	1037646	540,11498	2119	4148	6267	SO:0001589	frameshift_variant	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1037646delC	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.677delC	19.37:g.1037646delC	ENSP00000263097:p.Thr226fs					CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|CNN2_ENST00000606983.1_3'UTR	p.T226fs	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1040	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	226					A5D8U8|A6NFI4|D6W5X9|Q92578	Frame_Shift_Del	DEL	ENST00000263097.4	37	c.677delC	CCDS12053.1																																																																																				0.632	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		10	1188						10	1188	---	---	---	---
TLE2	7089	broad.mit.edu	37	19	3028803	3028804	+	Splice_Site	INS	-	-	G	rs202223987	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:3028803_3028804insG	ENST00000262953.6	-	2	287		c.e2-2		TLE2_ENST00000591529.1_Splice_Site|TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000590536.1_Splice_Site|TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000443826.3_Splice_Site|TLE2_ENST00000586422.1_5'Flank	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2						negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGGGGTCTGGGGGGGGTGT	0.624																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.e2-2		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)																																				SO:0001630	splice_region_variant	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3028803_3028804insG	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.25-2->C	19.37:g.3028811_3028811dupG						TLE2_ENST00000591529.1_Splice_Site|TLE2_ENST00000590536.1_Splice_Site|TLE2_ENST00000443826.3_Splice_Site|TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000455444.2_5'UTR		NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	287	-								B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Splice_Site	INS	ENST00000262953.6	37		CCDS45911.1																																																																																				0.624	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260	Intron	16	656						16	656	---	---	---	---
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-	rs564151103	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		9	379						9	379	---	---	---	---
ICAM4	3386	broad.mit.edu	37	19	10397718	10397719	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:10397718_10397719insT	ENST00000380770.3	+	1	76_77	c.30_31insT	c.(31-33)tttfs	p.F11fs	ICAM4_ENST00000393717.2_Frame_Shift_Ins_p.F11fs|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM5_ENST00000221980.4_5'Flank|ICAM4_ENST00000340992.4_Frame_Shift_Ins_p.F11fs|CTD-2369P2.5_ENST00000592893.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	11					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)	p.L13fs*40(1)		breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGTCGCTGCTGTTTTTTTTGGC	0.673																																						ENST00000393717.2																			1	Deletion - Frameshift(1)	p.L13fs*40(1)	large_intestine(1)	breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7						c.(28-33)ctttttfs		intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)																																				SO:0001589	frameshift_variant	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10397718_10397719insT	X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.38dupT	19.37:g.10397726_10397726dupT	ENSP00000370147:p.Phe11fs					ICAM4_ENST00000380770.3_Frame_Shift_Ins_p.LF10fs|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_Frame_Shift_Ins_p.LF10fs	p.LF10fs	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		1	39_40	+			10					A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Frame_Shift_Ins	INS	ENST00000380770.3	37	c.30_31insT	CCDS12232.1																																																																																				0.673	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		8	132						8	132	---	---	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						ENST00000598398.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(40-42)del		hepcidin antimicrobial peptide																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del					HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	336_338	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		8	1015						8	1015	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795823	42795824	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:42795823_42795824insC	ENST00000575354.2	+	11	2852_2853	c.2812_2813insC	c.(2812-2814)gccfs	p.A938fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.A1847fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A938fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	938	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGTGGAGGGGCCGGCCAGCCA	0.693			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5539-5541)cggfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795823_42795824insC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2814dupC	19.37:g.42795825_42795825dupC	ENSP00000458663:p.Ala938fs					CIC_ENST00000160740.3_Frame_Shift_Ins_p.R938fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.R938fs	p.R1847fs			Q96RK0	CIC_HUMAN			12	5607_5608	+		Prostate(69;0.00682)	938					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.5539_5540insC	CCDS12601.1																																																																																				0.693	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			11	714						11	714	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2118)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR	p.EG705del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2256_2258	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			10	940						10	940	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50868836	50868838	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:50868836_50868838delGCA	ENST00000253719.2	-	1	249_251	c.41_43delTGC	c.(40-45)ctgcct>cct	p.L14del	CTB-191K22.6_ENST00000597049.1_RNA|NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	14					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TTcagcagaggcagcagcagcag	0.596																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(40-45)cct>c		napsin A aspartic peptidase																																				SO:0001651	inframe_deletion	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50868836_50868838delGCA	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.41_43delTGC	19.37:g.50868845_50868847delGCA	ENSP00000253719:p.Leu14del					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.LP14del	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	1	249_251	-		all_neural(266;0.057)	14					Q8WWD9	In_Frame_Del	DEL	ENST00000253719.2	37	c.41_43delTGC	CCDS12794.1																																																																																				0.596	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		8	198						8	198	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			8	528						8	528	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:5903283_5903285delGAG	ENST00000378961.4	+	4	697_699	c.493_495delGAG	c.(493-495)gagdel	p.E169del		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	169	Poly-Glu.					extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAGAGGATGAGGAGGAGGAGG	0.532																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(493-495)del		chromogranin B (secretogranin 1)																																				SO:0001651	inframe_deletion	1114					extracellular region	hormone activity	g.chr20:5903283_5903285delGAG		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.493_495delGAG	20.37:g.5903292_5903294delGAG	ENSP00000368244:p.Glu169del						p.E169del	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			4	697_699	+			169			Poly-Glu.		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	In_Frame_Del	DEL	ENST00000378961.4	37	c.493_495delGAG	CCDS13092.1																																																																																				0.532	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		7	249						7	249	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21143813	21143814	+	RNA	INS	-	-	T	rs536341837|rs371455437		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:21143813_21143814insT	ENST00000591761.1	-	0	5051				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AAGCCATTCAATTTTTTTTTTC	0.371																																						ENST00000591761.1																			0																																																			0							g.chr20:21143813_21143814insT																													20.37:g.21143823_21143823dupT						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	INS	ENST00000591761.1	37																																																																																						0.371	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			11	359						11	359	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58467047	58467047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:58467047delT	ENST00000357552.3	-	24	2587	c.2362delA	c.(2362-2364)atgfs	p.M788fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	788					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.M788fs*1(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGCTCACCATTTTTTTTTGT	0.323																																						ENST00000357552.3																			1	Deletion - Frameshift(1)	p.M788fs*1(1)	ovary(1)	NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2362-2364)tgfs		synaptonemal complex protein 2							72.0	69.0	70.0					20																	58467047		2202	4299	6501	SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467047delT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2362delA	20.37:g.58467047delT	ENSP00000350162:p.Met788fs					SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs	p.M788fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		24	2587	-	all_lung(29;0.00344)		788					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Del	DEL	ENST00000357552.3	37	c.2362delA	CCDS13482.1																																																																																				0.323	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		7	174						7	174	---	---	---	---
APP	351	broad.mit.edu	37	21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000474136.1_5'UTR	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		7	208						7	208	---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28296615	28296615	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr21:28296615delA	ENST00000284987.5	-	8	2671	c.2550delT	c.(2548-2550)tttfs	p.F850fs	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	850	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCTTGGGAACAAAAAAGCTAT	0.478																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(2548-2550)ttfs		ADAM metallopeptidase with thrombospondin type 1 motif, 5							114.0	119.0	117.0					21																	28296615		2203	4300	6503	SO:0001589	frameshift_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296615delA	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2550delT	21.37:g.28296615delA	ENSP00000284987:p.Phe850fs					AP001601.2_ENST00000426771.1_RNA	p.F850fs	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			8	2671	-			850			Spacer.		Q52LV4|Q9UKP2	Frame_Shift_Del	DEL	ENST00000284987.5	37	c.2550delT	CCDS13579.1																																																																																				0.478	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			9	747						9	747	---	---	---	---
TCP10L	140290	broad.mit.edu	37	21	33949091	33949091	+	Frame_Shift_Del	DEL	C	C	-	rs373347740		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr21:33949091delC	ENST00000300258.3	-	5	754	c.641delG	c.(640-642)ggtfs	p.G214fs	LINC00846_ENST00000334165.4_lincRNA|TCP10L_ENST00000472557.1_Frame_Shift_Del_p.G128fs	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	214					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCTTCAGACACCCCCCCGTCT	0.478																																						ENST00000300258.3																			0				breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						c.(640-642)gtfs		t-complex 10-like							118.0	108.0	112.0					21																	33949091		2203	4300	6503	SO:0001589	frameshift_variant	140290							g.chr21:33949091delC	AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.641delG	21.37:g.33949091delC	ENSP00000300258:p.Gly214fs					TCP10L_ENST00000491828.1_5'UTR	p.G214fs	NM_144659.5	NP_653260.1					5	754	-								Q53EW0|Q96LN5	Frame_Shift_Del	DEL	ENST00000300258.3	37	c.641delG	CCDS13616.1																																																																																				0.478	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1	NM_144659		12	1264						12	1264	---	---	---	---
NEFH	4744	broad.mit.edu	37	22	29885599	29885604	+	In_Frame_Del	DEL	AGGAAG	AGGAAG	-	rs267607534|rs373980795|rs267607533|rs149571560|rs200984527|rs370803228		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:29885599_29885604delAGGAAG	ENST00000310624.6	+	4	2003_2008	c.1970_1975delAGGAAG	c.(1969-1977)aaggaagag>aag	p.EE658del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	664	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCAGAGAAGGAAGAGGCCAAGTC	0.558																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(1969-1977)aag>a		neurofilament, heavy polypeptide																																				SO:0001651	inframe_deletion	4744				cell death|nervous system development	neurofilament		g.chr22:29885599_29885604delAGGAAG		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1970_1975delAGGAAG	22.37:g.29885599_29885604delAGGAAG	ENSP00000311997:p.Glu658_Glu659del						p.KEE657del	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2003_2008	+			663			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	c.1970_1975delAGGAAG	CCDS13858.1																																																																																				0.558	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		7	637						7	637	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2785-2787)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696948_36696950delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		11	774						11	774	---	---	---	---
SMDT1	91689	broad.mit.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	GAT	-	rs141840500		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:42478046_42478048delGAT	ENST00000331479.3	+	2	378_380	c.304_306delGAT	c.(304-306)gatdel	p.D107del		NM_033318.4	NP_201575.3	Q9H4I9	EMRE_HUMAN	single-pass membrane protein with aspartate-rich tail 1	107	Asp/Glu-rich.				calcium ion transmembrane import into mitochondrion (GO:0036444)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	integral component of mitochondrial inner membrane (GO:0031305)|uniplex complex (GO:1990246)											TGTTCCAGAGGATGATGATGATG	0.478																																						ENST00000331479.3																			0											c.(304-306)del		single-pass membrane protein with aspartate-rich tail 1				0,4264		0,0,2132						3.7	1.0			147	3,8251		0,3,4124	no	coding	C22orf32	NM_033318.4		0,3,6256	A1A1,A1R,RR		0.0363,0.0,0.024				3,12515				SO:0001651	inframe_deletion	91689							g.chr22:42478046_42478048delGAT	BC024237	CCDS14031.1	22q13.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000183172	ENSG00000183172			25055	protein-coding gene	gene with protein product		615588	"""chromosome 22 open reading frame 32"""	C22orf32		12477932	Standard	NM_033318		Approved	dJ186O1.1, DDDD	uc003bca.3	Q9H4I9	OTTHUMG00000151286	ENST00000331479.3:c.304_306delGAT	22.37:g.42478055_42478057delGAT	ENSP00000327467:p.Asp107del					SMDT1_ENST00000547929.1_Intron	p.D107del	NM_033318.4	NP_201575.3					2	378_380	+								B2R5D1|Q8TAB9	In_Frame_Del	DEL	ENST00000331479.3	37	c.304_306delGAT	CCDS14031.1																																																																																				0.478	SMDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322086.1	NM_033318		10	526						10	526	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_ENST00000335626.4_In_Frame_Del_p.S246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(736-741)ttc>t		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610573_42610575delAGG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.737_739delCCT	22.37:g.42610582_42610584delAGG	ENSP00000352463:p.Ser246del					TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	873_875	-			246			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.737_739delCCT	CCDS14033.1																																																																																				0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		11	484						11	484	---	---	---	---
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-	rs552164906		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(895-897)atfs		ADP-ribosylation factor GTPase activating protein 3							317.0	285.0	296.0					22																	43213780		2203	4300	6503	SO:0001589	frameshift_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43213780delT	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.896delA	22.37:g.43213780delT	ENSP00000263245:p.Asn299fs					ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	p.N299fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			10	1115	-			299					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.896delA	CCDS14042.1																																																																																				0.363	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		7	787						7	787	---	---	---	---
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)gggaag>ggg	p.K375del	GNL3L_ENST00000360845.2_In_Frame_Del_p.K375del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	375					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1111-1116)ggg>gg		guanine nucleotide binding protein-like 3 (nucleolar)-like																																				SO:0001651	inframe_deletion	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578339_54578341delGAA	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1113_1115delGAA	X.37:g.54578348_54578350delGAA	ENSP00000338573:p.Lys375del					GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			12	1252_1254	+			371						In_Frame_Del	DEL	ENST00000336470.4	37	c.1113_1115delGAA	CCDS14360.1																																																																																				0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		7	277						7	277	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		9	150						9	150	---	---	---	---
