#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		8	349	0	0	0	1	0	8	349				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		15	977	0	0	0	1	0	15	977				
ALAS2	212	broad.mit.edu	37	X	55047614	55047614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:55047614C>T	ENST00000330807.5	-	5	646	c.509G>A	c.(508-510)cGc>cAc	p.R170H	ALAS2_ENST00000498636.1_5'Flank|ALAS2_ENST00000396198.3_Missense_Mutation_p.R157H|ALAS2_ENST00000335854.4_Missense_Mutation_p.R133H	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	170			R -> H (in XLSA; significantly increased thermosensitivity). {ECO:0000269|PubMed:21309041}.		cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ATCAGCCCAGCGGTTCACAGT	0.483																																						ENST00000330807.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17	GRCh37	CM983851|CM983852	ALAS2	M		c.(508-510)cGc>cAc		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						170.0	121.0	137.0					X																	55047614		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55047614C>T		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.509G>A	X.37:g.55047614C>T	ENSP00000332369:p.Arg170His					ALAS2_ENST00000335854.4_Missense_Mutation_p.R133H|ALAS2_ENST00000396198.3_Missense_Mutation_p.R157H	p.R170H	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN			5	646	-			170					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.509G>A	CCDS14366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.145686|5.145686	0.94603|0.94603	.|.	.|.	ENSG00000158578|ENSG00000158578	ENST00000455688|ENST00000330807;ENST00000396198;ENST00000335854	.|D;D;D	.|0.95554	.|-3.74;-3.74;-3.74	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97971|0.97971	0.9332|0.9332	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.996;0.998	D|D	0.99123|0.99123	1.0850|1.0850	5|10	.|0.87932	.|D	.|0	-17.4214|-17.4214	16.2829|16.2829	0.82707|0.82707	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|133;157;170	.|A8K6C4;Q5JZF5;P22557	.|.;.;HEM0_HUMAN	T|H	122|170;157;133	.|ENSP00000332369:R170H;ENSP00000379501:R157H;ENSP00000337131:R133H	.|ENSP00000332369:R170H	A|R	-|-	1|2	0|0	ALAS2|ALAS2	55064339|55064339	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.185000|2.185000	0.69588|0.69588	0.529000|0.529000	0.55759|0.55759	GCT|CGC		0.483	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		109	113	0	0	0	1	0	109	113				
DHX40	79665	broad.mit.edu	37	17	57650476	57650476	+	Splice_Site	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:57650476G>A	ENST00000251241.4	+	4	573		c.e4-1		DHX40_ENST00000451169.2_Splice_Site|DHX40_ENST00000425628.3_Splice_Site	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40								ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTGAACATTAGGAGACAGCAA	0.368																																						ENST00000451169.2																			0				endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.e4-1		DEAH (Asp-Glu-Ala-His) box polypeptide 40							81.0	86.0	84.0					17																	57650476		2203	4296	6499	SO:0001630	splice_region_variant	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57650476G>A	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.427-1G>A	17.37:g.57650476G>A						DHX40_ENST00000251241.4_Splice_Site|DHX40_ENST00000425628.3_Splice_Site				Q8IX18	DHX40_HUMAN			4	488	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Splice_Site	SNP	ENST00000251241.4	37		CCDS11617.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491702	0.84962	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX40	55005258	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.301000	0.96167	2.882000	0.98803	0.655000	0.94253	.		0.368	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612	Intron	185	621	0	0	0	1	0	185	621				
CPE	1363	broad.mit.edu	37	4	166418730	166418730	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:166418730T>C	ENST00000402744.4	+	9	1679	c.1399T>C	c.(1399-1401)Tgg>Cgg	p.W467R		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	467					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GATGGAATGGTGGAAAATGAT	0.289																																						ENST00000402744.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1399-1401)Tgg>Cgg		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						85.0	87.0	86.0					4																	166418730		2201	4296	6497	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166418730T>C	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.1399T>C	4.37:g.166418730T>C	ENSP00000386104:p.Trp467Arg						p.W467R	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	9	1679	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	467					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.1399T>C	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.280597	0.59758	.	.	ENSG00000109472	ENST00000402744	T	0.12774	2.65	6.08	6.08	0.98989	Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.01829	-1.1265	10	0.87932	D	0	-11.282	16.643	0.85134	0.0:0.0:0.0:1.0	.	467	P16870	CBPE_HUMAN	R	467	ENSP00000386104:W467R	ENSP00000386104:W467R	W	+	1	0	CPE	166638180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.085000	0.76875	2.330000	0.79161	0.533000	0.62120	TGG		0.289	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		13	286	0	0	0	1	0	13	286				
TMEM38A	79041	broad.mit.edu	37	19	16797152	16797152	+	Missense_Mutation	SNP	G	G	A	rs78725797		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:16797152G>A	ENST00000187762.2	+	5	699	c.608G>A	c.(607-609)cGc>cAc	p.R203H		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	203						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CAGCAGACCCGCTGGCTCCCA	0.562																																						ENST00000187762.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(607-609)cGc>cAc		transmembrane protein 38A		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	95.0	107.0		608	3.8	1.0	19	dbSNP_131	107	0,8600		0,0,4300	no	missense	TMEM38A	NM_024074.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	203/300	16797152	1,13005	2203	4300	6503	SO:0001583	missense	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16797152G>A	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.608G>A	19.37:g.16797152G>A	ENSP00000187762:p.Arg203His						p.R203H	NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			5	699	+			203					A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	c.608G>A	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	g	9.106	1.005306	0.19199	2.27E-4	0.0	ENSG00000072954	ENST00000187762	.	.	.	4.87	3.84	0.44239	.	0.110837	0.64402	D	0.000011	T	0.15349	0.0370	N	0.00869	-1.13	0.36185	D	0.849713	B	0.11235	0.004	B	0.08055	0.003	T	0.09907	-1.0653	9	0.33940	T	0.23	-42.5728	5.1808	0.15160	0.2785:0.0:0.7215:0.0	.	203	Q9H6F2	TM38A_HUMAN	H	203	.	ENSP00000187762:R203H	R	+	2	0	TMEM38A	16658152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.170000	0.58229	2.257000	0.74773	0.655000	0.94253	CGC		0.562	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		5	189	0	0	0	1	0	5	189				
BEST3	144453	broad.mit.edu	37	12	70048804	70048804	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:70048804G>C	ENST00000330891.5	-	10	2116	c.1890C>G	c.(1888-1890)atC>atG	p.I630M	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.I417M|BEST3_ENST00000553096.1_Missense_Mutation_p.I524M	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	630					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCACAATGTTGATCCCACTGA	0.468																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1888-1890)atC>atG		bestrophin 3							88.0	86.0	87.0					12																	70048804		1911	4138	6049	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70048804G>C	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1890C>G	12.37:g.70048804G>C	ENSP00000332413:p.Ile630Met					BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.I524M|BEST3_ENST00000488961.1_Missense_Mutation_p.I417M	p.I630M	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	2116	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		630					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1890C>G	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473125	0.26423	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98090	-4.39;-4.71;-4.68	5.53	2.67	0.31697	.	0.874202	0.10059	N	0.721139	D	0.94006	0.8080	L	0.32530	0.975	0.09310	N	1	B;B	0.18461	0.022;0.028	B;B	0.19148	0.006;0.024	D	0.88148	0.2849	10	0.44086	T	0.13	-1.6889	5.3228	0.15891	0.2378:0.2019:0.5603:0.0	.	630;417	Q8N1M1;B5MDI8	BEST3_HUMAN;.	M	417;630;524	ENSP00000433213:I417M;ENSP00000332413:I630M;ENSP00000449548:I524M	ENSP00000332413:I630M	I	-	3	3	BEST3	68335071	0.078000	0.21339	0.076000	0.20297	0.118000	0.20060	0.955000	0.29188	1.323000	0.45263	0.563000	0.77884	ATC		0.468	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		89	268	0	0	0	1	0	89	268				
LRFN5	145581	broad.mit.edu	37	14	42360832	42360832	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:42360832G>A	ENST00000298119.4	+	4	2954	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	589						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCCAGTCCGTGTCCAAACA	0.463										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1765-1767)Gtg>Atg		leucine rich repeat and fibronectin type III domain containing 5							117.0	99.0	105.0					14																	42360832		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360832G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1765G>A	14.37:g.42360832G>A	ENSP00000298119:p.Val589Met	HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	p.V589M	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2954	+			589					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1765G>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	3.589	-0.084060	0.07097	.	.	ENSG00000165379	ENST00000298119	T	0.46819	0.86	5.95	-8.33	0.00992	.	0.719510	0.12218	N	0.488691	T	0.15435	0.0372	N	0.08118	0	0.33496	D	0.589311	P	0.37370	0.592	B	0.22880	0.042	T	0.20672	-1.0268	10	0.42905	T	0.14	.	7.3406	0.26635	0.2434:0.0993:0.5598:0.0975	.	589	Q96NI6	LRFN5_HUMAN	M	589	ENSP00000298119:V589M	ENSP00000298119:V589M	V	+	1	0	LRFN5	41430582	0.000000	0.05858	0.103000	0.21229	0.809000	0.45718	-0.726000	0.04936	-1.450000	0.01936	-0.157000	0.13467	GTG		0.463	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		79	248	0	0	0	1	0	79	248				
DPP6	1804	broad.mit.edu	37	7	154596629	154596629	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:154596629A>G	ENST00000377770.3	+	15	1643	c.1502A>G	c.(1501-1503)tAc>tGc	p.Y501C	DPP6_ENST00000332007.3_Missense_Mutation_p.Y439C|DPP6_ENST00000404039.1_Missense_Mutation_p.Y437C|DPP6_ENST00000427557.1_Missense_Mutation_p.Y394C			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	501					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTTTGCAGCTACTTCCTGAGC	0.577																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1309-1311)tAc>tGc		dipeptidyl-peptidase 6							84.0	92.0	89.0					7																	154596629		2073	4211	6284	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154596629A>G	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1502A>G	7.37:g.154596629A>G	ENSP00000367001:p.Tyr501Cys					DPP6_ENST00000427557.1_Missense_Mutation_p.Y394C|DPP6_ENST00000377770.3_Missense_Mutation_p.Y501C|DPP6_ENST00000332007.3_Missense_Mutation_p.Y439C	p.Y437C	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		15	1897	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	501						Missense_Mutation	SNP	ENST00000377770.3	37	c.1310A>G		.	.	.	.	.	.	.	.	.	.	A	21.1	4.092541	0.76756	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.04	5.04	0.67666	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.056551	0.64402	D	0.000001	T	0.73560	0.3602	H	0.95780	3.72	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.81904	-0.0719	10	0.87932	D	0	-22.1949	13.0759	0.59087	1.0:0.0:0.0:0.0	.	394;439;501;437	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	C	437;501;439;394	ENSP00000385578:Y437C;ENSP00000367001:Y501C;ENSP00000328226:Y439C;ENSP00000397303:Y394C	ENSP00000328226:Y439C	Y	+	2	0	DPP6	154227562	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.947000	0.75959	2.018000	0.59344	0.529000	0.55759	TAC		0.577	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		11	33	0	0	0	1	0	11	33				
CPSF2	53981	broad.mit.edu	37	14	92628035	92628035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:92628035C>T	ENST00000298875.4	+	16	2581	c.2296C>T	c.(2296-2298)Caa>Taa	p.Q766*		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	766					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CTGCCTTTGTCAAGATTTTTA	0.318																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(2296-2298)Caa>Taa		cleavage and polyadenylation specific factor 2, 100kDa							80.0	77.0	78.0					14																	92628035		2203	4298	6501	SO:0001587	stop_gained	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92628035C>T	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.2296C>T	14.37:g.92628035C>T	ENSP00000298875:p.Gln766*						p.Q766*	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	16	2581	+		all_cancers(154;0.0766)	766					B3KME1|Q6NSJ1|Q9H3W7	Nonsense_Mutation	SNP	ENST00000298875.4	37	c.2296C>T	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	C	40	8.417780	0.98803	.	.	ENSG00000165934	ENST00000298875	.	.	.	5.7	5.7	0.88788	.	0.136439	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	14.6844	0.69040	0.0:0.7349:0.265:0.0	.	.	.	.	X	766	.	ENSP00000298875:Q766X	Q	+	1	0	CPSF2	91697788	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.426000	0.52778	2.683000	0.91414	0.655000	0.94253	CAA		0.318	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			39	290	0	0	0	1	0	39	290				
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:9784028T>C	ENST00000304374.2	+	1	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	125					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGTGCTCCACTGCCTCCATCC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.0					ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(373-375)acT>acC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						52.0	50.0	50.0					4																	9784028		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784028T>C	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.375T>C	4.37:g.9784028T>C							p.T125T	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	771	+			125					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.375T>C	CCDS3405.1																																																																																				0.622	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			7	224	0	0	0	1	0	7	224				
SYNE1	23345	broad.mit.edu	37	6	152552704	152552704	+	Splice_Site	SNP	T	T	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:152552704T>A	ENST00000367255.5	-	114	21464		c.e114-2		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTAAAACCCTAAAAAAAAAG	0.338										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e114-2		spectrin repeat containing, nuclear envelope 1							41.0	40.0	40.0					6																	152552704		2202	4300	6502	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152552704T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20863-2A>T	6.37:g.152552704T>A		HNSCC(10;0.0054)				SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site		NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	114	21464	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37		CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686025	0.88639	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152594397	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	7.879000	0.87236	2.302000	0.77476	0.533000	0.62120	.		0.338	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	5	144	0	0	0	1	0	5	144				
ING1	3621	broad.mit.edu	37	13	111368263	111368263	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:111368263A>G	ENST00000375774.3	+	1	935	c.473A>G	c.(472-474)gAc>gGc	p.D158G	ING1_ENST00000464141.1_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	158					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCAGTTCGGACCGCCTCCCG	0.711																																						ENST00000375774.3																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(472-474)gAc>gGc		inhibitor of growth family, member 1							13.0	21.0	18.0					13																	111368263		1765	3634	5399	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111368263A>G		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.473A>G	13.37:g.111368263A>G	ENSP00000364929:p.Asp158Gly					ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron	p.D158G	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	935	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		158					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.473A>G	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	A	0.643	-0.812678	0.02798	.	.	ENSG00000153487	ENST00000375774	T	0.55930	0.49	3.31	-2.11	0.07187	.	.	.	.	.	T	0.24967	0.0606	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13019	-1.0525	9	0.31617	T	0.26	.	3.314	0.07026	0.4814:0.0:0.3271:0.1915	.	158	Q9UK53	ING1_HUMAN	G	158	ENSP00000364929:D158G	ENSP00000364929:D158G	D	+	2	0	ING1	110166264	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-3.845000	0.00352	-0.273000	0.09246	-0.252000	0.11476	GAC		0.711	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		60	140	0	0	0	1	0	60	140				
GABRB1	2560	broad.mit.edu	37	4	47322169	47322169	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:47322169A>T	ENST00000295454.3	+	5	779	c.487A>T	c.(487-489)Atg>Ttg	p.M163L	GABRB1_ENST00000538619.1_Missense_Mutation_p.M93L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	163					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCATGTATGATGGATCTTCG	0.423																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(487-489)Atg>Ttg		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						121.0	107.0	112.0					4																	47322169		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47322169A>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.487A>T	4.37:g.47322169A>T	ENSP00000295454:p.Met163Leu					GABRB1_ENST00000538619.1_Missense_Mutation_p.M93L	p.M163L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			5	779	+			163					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.487A>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	A	31	5.067721	0.93950	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.78707	-1.2;-1.2	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.196139	0.44285	D	0.000466	T	0.81394	0.4813	L	0.43554	1.36	0.58432	D	0.999998	D;P	0.57257	0.979;0.699	P;P	0.60345	0.873;0.833	T	0.82839	-0.0259	10	0.62326	D	0.03	-26.9689	13.0442	0.58916	1.0:0.0:0.0:0.0	.	93;163	F5GXV5;P18505	.;GBRB1_HUMAN	L	163;93	ENSP00000295454:M163L;ENSP00000440330:M93L	ENSP00000295454:M163L	M	+	1	0	GABRB1	47016926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.665000	0.91144	2.178000	0.69098	0.477000	0.44152	ATG		0.423	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			18	274	0	0	0	1	0	18	274				
POM121L12	285877	broad.mit.edu	37	7	53104077	53104077	+	Missense_Mutation	SNP	C	C	T	rs373781225		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:53104077C>T	ENST00000408890.4	+	1	729	c.713C>T	c.(712-714)cCg>cTg	p.P238L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	238										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTCTGAAGCCGAGCCTCGGC	0.652																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(712-714)cCg>cTg		POM121 transmembrane nucleoporin-like 12		C	LEU/PRO	1,3927		0,1,1963	44.0	52.0	49.0		713	-3.7	0.0	7		49	0,8270		0,0,4135	no	missense	POM121L12	NM_182595.3	98	0,1,6098	TT,TC,CC		0.0,0.0255,0.0082	possibly-damaging	238/297	53104077	1,12197	1964	4135	6099	SO:0001583	missense	285877							g.chr7:53104077C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.713C>T	7.37:g.53104077C>T	ENSP00000386133:p.Pro238Leu						p.P238L	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	729	+			238					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.713C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	3.553	-0.091246	0.07053	2.55E-4	0.0	ENSG00000221900	ENST00000408890	T	0.10860	2.83	1.84	-3.67	0.04476	.	.	.	.	.	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	P	0.49635	0.926	P	0.45037	0.467	T	0.19353	-1.0308	9	0.51188	T	0.08	.	5.1209	0.14860	0.4429:0.2886:0.2685:0.0	.	238	Q8N7R1	P1L12_HUMAN	L	238	ENSP00000386133:P238L	ENSP00000386133:P238L	P	+	2	0	POM121L12	53071571	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.714000	0.01881	-2.499000	0.00511	-1.083000	0.02208	CCG		0.652	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		93	301	0	0	0	1	0	93	301				
FKBP6	8468	broad.mit.edu	37	7	72744195	72744195	+	Missense_Mutation	SNP	G	G	A	rs3950376		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:72744195G>A	ENST00000252037.4	+	4	377	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	TRIM50_ENST00000493498.1_5'Flank|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q|TRIM50_ENST00000333149.2_5'Flank|FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	103	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.			R -> Q (in Ref. 2; AAP97324). {ECO:0000305}.	cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R103Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGAGCATGCGGAGAGGAGAG	0.537																																						ENST00000252037.4																			1	Substitution - Missense(1)	p.R103Q(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(307-309)cGg>cAg		FK506 binding protein 6, 36kDa							131.0	112.0	118.0					7																	72744195		2203	4300	6503	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744195G>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.308G>A	7.37:g.72744195G>A	ENSP00000252037:p.Arg103Gln					FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q|FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q	p.R103Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN			4	377	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	103			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.308G>A	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538247	0.45176	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	4.52	4.52	0.55395	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.229081	0.39985	N	0.001216	T	0.64702	0.2622	N	0.12502	0.225	0.36640	D	0.876817	B;B	0.33073	0.396;0.023	B;B	0.16289	0.009;0.015	T	0.66512	-0.5905	10	0.19147	T	0.46	-20.1574	7.1478	0.25593	0.1919:0.0:0.8081:0.0	rs3950376	98;103	O75344-2;O75344	.;FKBP6_HUMAN	Q	98;98;73;103	ENSP00000416277:R98Q;ENSP00000402360:R98Q;ENSP00000394952:R73Q;ENSP00000252037:R103Q	ENSP00000252037:R103Q	R	+	2	0	FKBP6	72382131	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.794000	0.47853	2.101000	0.63845	0.485000	0.47835	CGG		0.537	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		6	225	0	0	0	1	0	6	225				
FKBP6	8468	broad.mit.edu	37	7	72744255	72744255	+	Missense_Mutation	SNP	G	G	C	rs1064197		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:72744255G>C	ENST00000252037.4	+	4	437	c.368G>C	c.(367-369)tGc>tCc	p.C123S	TRIM50_ENST00000493498.1_5'Flank|FKBP6_ENST00000413573.2_Missense_Mutation_p.C93S|TRIM50_ENST00000333149.2_5'Flank|FKBP6_ENST00000431982.2_Missense_Mutation_p.C118S	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	123	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.			C -> S (in Ref. 2; AAP97324). {ECO:0000305}.	cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.C123S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACGCTGGGCTGCCCTCCCTTG	0.547																																						ENST00000252037.4																			1	Substitution - Missense(1)	p.C123S(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(367-369)tGc>tCc		FK506 binding protein 6, 36kDa							134.0	119.0	124.0					7																	72744255		2203	4300	6503	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744255G>C	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.368G>C	7.37:g.72744255G>C	ENSP00000252037:p.Cys123Ser					FKBP6_ENST00000413573.2_Missense_Mutation_p.C93S|FKBP6_ENST00000431982.2_Missense_Mutation_p.C118S	p.C123S	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN			4	437	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	123			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.368G>C	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152779	0.57259	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;D;T	0.85088	1.06;1.06;-1.94;1.06	4.52	4.52	0.55395	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	N	0.12663	0.25	0.80722	D	1	P;P	0.35363	0.497;0.49	B;B	0.44315	0.116;0.446	T	0.73477	-0.3970	10	0.11182	T	0.66	-17.6513	15.8937	0.79322	0.0:0.0:1.0:0.0	rs1064197;rs2883080	118;123	O75344-2;O75344	.;FKBP6_HUMAN	S	118;118;93;123	ENSP00000416277:C118S;ENSP00000402360:C118S;ENSP00000394952:C93S;ENSP00000252037:C123S	ENSP00000252037:C123S	C	+	2	0	FKBP6	72382191	1.000000	0.71417	0.993000	0.49108	0.631000	0.37964	9.308000	0.96247	2.101000	0.63845	0.485000	0.47835	TGC		0.547	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		7	279	0	0	0	1	0	7	279				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		16	317	0	0	0	1	0	16	317				
PAGE1	8712	broad.mit.edu	37	X	49459355	49459355	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:49459355A>C	ENST00000376150.3	-	2	151	c.19T>G	c.(19-21)Tta>Gta	p.L7V		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	7					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CGATAGATTAATCTTCTTAGA	0.373																																						ENST00000376150.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7						c.(19-21)Tta>Gta		P antigen family, member 1 (prostate associated)							73.0	61.0	65.0					X																	49459355		2203	4300	6503	SO:0001583	missense	8712				cellular defense response			g.chrX:49459355A>C	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.19T>G	X.37:g.49459355A>C	ENSP00000365320:p.Leu7Val						p.L7V	NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN			2	151	-	Ovarian(276;0.236)		7					Q6FGM3|Q9BSS7	Missense_Mutation	SNP	ENST00000376150.3	37	c.19T>G	CCDS14327.1	.	.	.	.	.	.	.	.	.	.	A	6.763	0.509661	0.12883	.	.	ENSG00000068985	ENST00000376150	T	0.10005	2.92	1.57	1.57	0.23409	.	.	.	.	.	T	0.11067	0.0270	L	0.50333	1.59	0.09310	N	1	D	0.56521	0.976	P	0.46389	0.515	T	0.21211	-1.0252	9	0.24483	T	0.36	.	4.6903	0.12778	1.0:0.0:0.0:0.0	.	7	O75459	GAGB1_HUMAN	V	7	ENSP00000365320:L7V	ENSP00000365320:L7V	L	-	1	2	PAGE1	49346066	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.800000	0.27042	0.857000	0.35407	0.314000	0.21332	TTA		0.373	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1			45	61	0	0	0	1	0	45	61				
EFEMP2	30008	broad.mit.edu	37	11	65638816	65638816	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:65638816G>T	ENST00000307998.6	-	4	409	c.179C>A	c.(178-180)aCc>aAc	p.T60N	EFEMP2_ENST00000528176.1_Missense_Mutation_p.T60N	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	60	EGF-like 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CTCAGGGATGGTCAGACACTC	0.642																																						ENST00000307998.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(178-180)aCc>aAc		EGF containing fibulin-like extracellular matrix protein 2							88.0	96.0	94.0					11																	65638816		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65638816G>T	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.179C>A	11.37:g.65638816G>T	ENSP00000309953:p.Thr60Asn					EFEMP2_ENST00000528176.1_Missense_Mutation_p.T60N	p.T60N	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	4	409	-			60			EGF-like 1; atypical.		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.179C>A	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812097	0.70797	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	4.93	4.93	0.64822	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.40640	N	0.001054	D	0.94666	0.8280	M	0.69358	2.11	0.52501	D	0.999956	D;D	0.69078	0.997;0.997	D;P	0.80764	0.994;0.898	D	0.92380	0.5912	10	0.16896	T	0.51	.	15.6604	0.77182	0.0:0.0:1.0:0.0	.	60;60	E9PRU1;O95967	.;FBLN4_HUMAN	N	60	ENSP00000434151:T60N;ENSP00000309953:T60N;ENSP00000435419:T60N;ENSP00000435963:T60N	ENSP00000309953:T60N	T	-	2	0	EFEMP2	65395392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.893000	0.63199	2.553000	0.86117	0.655000	0.94253	ACC		0.642	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		71	526	1	0	3.61678e-42	1	4.01569e-42	71	526				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		16	310	0	0	0	1	0	16	310				
BVES	11149	broad.mit.edu	37	6	105563588	105563588	+	Missense_Mutation	SNP	G	G	A	rs371189369		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:105563588G>A	ENST00000314641.5	-	7	1147	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	BVES_ENST00000336775.5_Missense_Mutation_p.R311W|BVES_ENST00000446408.2_Missense_Mutation_p.R311W	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	311					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.R311W(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GAGGTACCCCGAAGAAACTGG	0.478																																						ENST00000314641.5																			1	Substitution - Missense(1)	p.R311W(1)	skin(1)	NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(931-933)Cgg>Tgg		blood vessel epicardial substance		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	180.0	155.0	163.0		931,931,931	5.9	1.0	6		163	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BVES	NM_001199563.1,NM_007073.4,NM_147147.3	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	311/361,311/361,311/361	105563588	1,13005	2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105563588G>A	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.931C>T	6.37:g.105563588G>A	ENSP00000313172:p.Arg311Trp					BVES_ENST00000446408.2_Missense_Mutation_p.R311W|BVES_ENST00000336775.5_Missense_Mutation_p.R311W	p.R311W	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			7	1147	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	311					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.931C>T	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884860	0.72410	0.0	1.16E-4	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.29397	1.57;1.57;1.57	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	L	0.55990	1.75	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.29822	-0.9999	10	0.72032	D	0.01	-21.4302	15.137	0.72576	0.0:0.0:0.8587:0.1413	.	311	Q8NE79	POPD1_HUMAN	W	311	ENSP00000313172:R311W;ENSP00000337259:R311W;ENSP00000397310:R311W	ENSP00000313172:R311W	R	-	1	2	BVES	105670281	1.000000	0.71417	0.997000	0.53966	0.708000	0.40852	3.314000	0.51943	2.822000	0.97130	0.563000	0.77884	CGG		0.478	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		70	388	0	0	0	1	0	70	388				
QRICH2	84074	broad.mit.edu	37	17	74283929	74283929	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:74283929C>G	ENST00000262765.5	-	6	3529	c.3350G>C	c.(3349-3351)gGg>gCg	p.G1117A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1117										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAGTTCCTTCCCTGCTTCTTG	0.562																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(3349-3351)gGg>gCg		glutamine rich 2							237.0	160.0	186.0					17																	74283929		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74283929C>G	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3350G>C	17.37:g.74283929C>G	ENSP00000262765:p.Gly1117Ala						p.G1117A	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			6	3529	-			1117					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.3350G>C	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423478	0.25639	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.61158	2.14;0.13	4.8	2.41	0.29592	.	.	.	.	.	T	0.52901	0.1763	N	0.20986	0.625	0.09310	N	1	D;D	0.55605	0.972;0.972	P;P	0.58210	0.831;0.835	T	0.34477	-0.9827	9	0.33141	T	0.24	-11.7068	6.6966	0.23203	0.0:0.6871:0.0:0.3129	.	1117;1117	B5MD94;Q9H0J4	.;QRIC2_HUMAN	A	1117;125;1117	ENSP00000262765:G1117A;ENSP00000394461:G125A	ENSP00000262765:G1117A	G	-	2	0	QRICH2	71795524	0.004000	0.15560	0.622000	0.29159	0.024000	0.10985	0.401000	0.20948	1.001000	0.39076	0.462000	0.41574	GGG		0.562	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		19	449	0	0	0	1	0	19	449				
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	3'UTR	SNP	C	C	T	rs4302302	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846121C>T																												ENST00000412938.1:c.*3476C>T	22.37:g.18846121C>T														0	3479	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			8	84	0	0	0	1	0	8	84				
MRGPRF	116535	broad.mit.edu	37	11	68773653	68773653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:68773653G>A	ENST00000309099.6	-	3	507	c.125C>T	c.(124-126)cCg>cTg	p.P42L	MRGPRF_ENST00000441623.1_Missense_Mutation_p.P42L|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	42						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCCGGAGGCGGCAGCATCGC	0.632																																						ENST00000309099.6																			0				endometrium(3)|lung(4)	7						c.(124-126)cCg>cTg		MAS-related GPR, member F							40.0	48.0	45.0					11																	68773653		2200	4294	6494	SO:0001583	missense	116535					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68773653G>A	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.125C>T	11.37:g.68773653G>A	ENSP00000309782:p.Pro42Leu					MRGPRF_ENST00000441623.1_Missense_Mutation_p.P42L	p.P42L	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	507	-			42					B3KV43|Q8NBK8	Missense_Mutation	SNP	ENST00000309099.6	37	c.125C>T	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332758	0.41297	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.05447	3.44;3.44	4.35	4.35	0.52113	.	0.000000	0.44483	D	0.000457	T	0.08447	0.0210	N	0.19112	0.55	0.09310	N	0.999993	D	0.69078	0.997	P	0.56088	0.791	T	0.36237	-0.9756	10	0.19590	T	0.45	-45.2304	12.2679	0.54689	0.0:0.0:1.0:0.0	.	42	Q96AM1	MRGRF_HUMAN	L	42	ENSP00000403660:P42L;ENSP00000309782:P42L	ENSP00000309782:P42L	P	-	2	0	MRGPRF	68530229	0.661000	0.27430	0.135000	0.22099	0.425000	0.31504	1.452000	0.35156	2.261000	0.74972	0.561000	0.74099	CCG		0.632	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015		72	192	0	0	0	1	0	72	192				
CCKAR	886	broad.mit.edu	37	4	26491074	26491074	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:26491074A>C	ENST00000295589.3	-	2	339	c.145T>G	c.(145-147)Tcc>Gcc	p.S49A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	49					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AATATCAAGGAGTACAAGAGA	0.547																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(145-147)Tcc>Gcc		cholecystokinin A receptor	Ceruletide(DB00403)						89.0	90.0	90.0					4																	26491074		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26491074A>C	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.145T>G	4.37:g.26491074A>C	ENSP00000295589:p.Ser49Ala						p.S49A	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			2	339	-		Breast(46;0.0503)	49					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.145T>G	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	A	9.049	0.991544	0.18966	.	.	ENSG00000163394	ENST00000295589	T	0.37752	1.18	5.24	4.03	0.46877	.	0.310205	0.34986	N	0.003532	T	0.17831	0.0428	N	0.12502	0.225	0.32321	N	0.562438	B	0.16166	0.016	B	0.20184	0.028	T	0.25813	-1.0121	10	0.02654	T	1	.	11.3334	0.49490	0.8638:0.0:0.0:0.1362	.	49	P32238	CCKAR_HUMAN	A	49	ENSP00000295589:S49A	ENSP00000295589:S49A	S	-	1	0	CCKAR	26100172	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.999000	0.57031	0.796000	0.33947	0.459000	0.35465	TCC		0.547	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			44	400	0	0	0	1	0	44	400				
APPL1	26060	broad.mit.edu	37	3	57282266	57282266	+	Silent	SNP	A	A	C	rs184540761	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:57282266A>C	ENST00000288266.3	+	10	897	c.750A>C	c.(748-750)acA>acC	p.T250T		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	250	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TGCAACAGACAATAGAGGATT	0.428																																						ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(748-750)acA>acC		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							120.0	112.0	115.0					3																	57282266		2203	4300	6503	SO:0001819	synonymous_variant	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57282266A>C	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.750A>C	3.37:g.57282266A>C							p.T250T	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	10	897	+			250			Required for RAB5A binding.		Q9P2B9	Silent	SNP	ENST00000288266.3	37	c.750A>C	CCDS2882.1																																																																																				0.428	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		154	462	0	0	0	1	0	154	462				
INHBA	3624	broad.mit.edu	37	7	41729807	41729807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:41729807C>T	ENST00000242208.4	-	3	968	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.R241Q	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	241					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACAGGCAATCCGAACGTCCAG	0.572										TSP Lung(11;0.080)																												ENST00000242208.4																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(721-723)cGg>cAg		inhibin, beta A							47.0	46.0	47.0					7																	41729807		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729807C>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.722G>A	7.37:g.41729807C>T	ENSP00000242208:p.Arg241Gln	TSP Lung(11;0.080)				INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.R241Q	p.R241Q	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			3	968	-			241					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.722G>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	36	5.853696	0.97030	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.62788	0.0;0.0	6.06	6.06	0.98353	Transforming growth factor-beta, N-terminal (1);	0.431115	0.26859	N	0.022126	T	0.73118	0.3546	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.67352	-0.5692	10	0.33141	T	0.24	-20.8404	20.6208	0.99490	0.0:1.0:0.0:0.0	.	241	P08476	INHBA_HUMAN	Q	241	ENSP00000242208:R241Q;ENSP00000397197:R241Q	ENSP00000242208:R241Q	R	-	2	0	INHBA	41696332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.915000	0.63355	2.882000	0.98803	0.655000	0.94253	CGG		0.572	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			43	196	0	0	0	1	0	43	196				
DARS2	55157	broad.mit.edu	37	1	173795824	173795824	+	Splice_Site	SNP	G	G	A	rs267598175		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:173795824G>A	ENST00000361951.4	+	2	854		c.e2-1		CENPL_ENST00000356198.2_5'Flank|CENPL_ENST00000345664.6_5'Flank|DARS2_ENST00000239457.5_Splice_Site|CENPL_ENST00000367710.3_5'Flank|CENPL_ENST00000495275.1_5'Flank	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TTTTTTTAAAGAATTCAGTAG	0.348																																						ENST00000361951.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30						c.e2-1		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						56.0	57.0	57.0					1																	173795824		2203	4300	6503	SO:0001630	splice_region_variant	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173795824G>A	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.128-1G>A	1.37:g.173795824G>A						DARS2_ENST00000239457.5_Splice_Site		NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN			2	854	+									Splice_Site	SNP	ENST00000361951.4	37		CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	8.251	0.809021	0.16537	.	.	ENSG00000117593	ENST00000361951	.	.	.	5.07	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4085	0.11421	0.0854:0.1262:0.5579:0.2304	.	.	.	.	.	-1	.	.	.	+	.	.	DARS2	172062447	1.000000	0.71417	0.791000	0.31998	0.252000	0.25951	7.534000	0.82004	1.260000	0.44134	0.467000	0.42956	.		0.348	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122	Intron	16	302	0	0	0	1	0	16	302				
PTPN23	25930	broad.mit.edu	37	3	47453870	47453870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:47453870C>T	ENST00000265562.4	+	23	4353	c.4276C>T	c.(4276-4278)Cgg>Tgg	p.R1426W	PTPN23_ENST00000431726.1_Missense_Mutation_p.R1300W	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1426	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.R1426W(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCAGCTGGTGCGGCGCATGCG	0.647																																						ENST00000265562.4																			1	Substitution - Missense(1)	p.R1426W(1)	prostate(1)	breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(4276-4278)Cgg>Tgg		protein tyrosine phosphatase, non-receptor type 23							37.0	37.0	37.0					3																	47453870		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47453870C>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4276C>T	3.37:g.47453870C>T	ENSP00000265562:p.Arg1426Trp					PTPN23_ENST00000431726.1_Missense_Mutation_p.R1300W	p.R1426W	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	23	4353	+			1426			Tyrosine-protein phosphatase.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.4276C>T	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559102	0.45590	.	.	ENSG00000076201	ENST00000265562	D	0.84146	-1.81	3.99	3.08	0.35506	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.315773	0.26304	N	0.025156	D	0.86377	0.5918	L	0.49571	1.57	0.32817	D	0.502271	D	0.76494	0.999	P	0.57846	0.828	D	0.87764	0.2600	10	0.56958	D	0.05	-21.5748	9.5586	0.39355	0.5458:0.4541:0.0:0.0	.	1426	Q9H3S7	PTN23_HUMAN	W	1426	ENSP00000265562:R1426W	ENSP00000265562:R1426W	R	+	1	2	PTPN23	47428874	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	1.491000	0.35583	0.813000	0.34350	0.563000	0.77884	CGG		0.647	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		5	197	0	0	0	1	0	5	197				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			5	160	0	0	0	1	0	5	160				
RAPGEF2	9693	broad.mit.edu	37	4	160260455	160260455	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:160260455G>T	ENST00000264431.4	+	13	2419	c.2000G>T	c.(1999-2001)aGa>aTa	p.R667I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	667	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAACAAAGAAGACTTCCAGAT	0.438																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(1999-2001)aGa>aTa		Rap guanine nucleotide exchange factor (GEF) 2							134.0	125.0	128.0					4																	160260455		1878	4099	5977	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160260455G>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2000G>T	4.37:g.160260455G>T	ENSP00000264431:p.Arg667Ile						p.R667I	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	13	2419	+	all_hematologic(180;0.24)		667			Ras-associating.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.2000G>T	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766898	0.90020	.	.	ENSG00000109756	ENST00000264431	T	0.30182	1.54	5.18	5.18	0.71444	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65705	-0.6103	10	0.87932	D	0	.	19.0561	0.93066	0.0:0.0:1.0:0.0	.	667	Q9Y4G8	RPGF2_HUMAN	I	667	ENSP00000264431:R667I	ENSP00000264431:R667I	R	+	2	0	RAPGEF2	160479905	1.000000	0.71417	0.020000	0.16555	0.929000	0.56500	9.726000	0.98782	2.571000	0.86741	0.591000	0.81541	AGA		0.438	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		48	662	1	0	5.20006e-24	1	5.56886e-24	48	662				
TSHZ2	128553	broad.mit.edu	37	20	51870106	51870106	+	Missense_Mutation	SNP	G	G	A	rs201799053		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:51870106G>A	ENST00000371497.5	+	2	996	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.G34S|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G34S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	37					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ggaggaCAGCGGTTCAGTAGC	0.532																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(109-111)Ggt>Agt		teashirt zinc finger homeobox 2		G	SER/GLY,SER/GLY	0,4406		0,0,2203	67.0	63.0	65.0		100,109	4.7	0.9	20		65	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	34/1032,37/1035	51870106	1,13005	2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870106G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.109G>A	20.37:g.51870106G>A	ENSP00000360552:p.Gly37Ser					TSHZ2_ENST00000603338.2_Missense_Mutation_p.G34S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G34S	p.G37S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	996	+			37					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.109G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	5.295	0.239845	0.10023	0.0	1.16E-4	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.14022	2.55;2.54	5.7	4.66	0.58398	.	0.302267	0.35615	N	0.003083	T	0.08670	0.0215	L	0.29908	0.895	0.30185	N	0.800061	B	0.19200	0.034	B	0.08055	0.003	T	0.04900	-1.0919	10	0.48119	T	0.1	-17.7222	3.7522	0.08570	0.3374:0.0:0.6626:0.0	.	37	Q9NRE2	TSH2_HUMAN	S	37;34	ENSP00000360552:G37S;ENSP00000333114:G34S	ENSP00000333114:G34S	G	+	1	0	TSHZ2	51303513	0.992000	0.36948	0.935000	0.37517	0.345000	0.29048	2.759000	0.47573	2.685000	0.91497	0.643000	0.83706	GGT		0.532	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		46	162	0	0	0	1	0	46	162				
IRS4	8471	broad.mit.edu	37	X	107977753	107977753	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:107977753T>A	ENST00000372129.2	-	1	1898	c.1822A>T	c.(1822-1824)Aaa>Taa	p.K608*	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	608					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTCAGAGATTTTCCACGTTCA	0.542																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1822-1824)Aaa>Taa		insulin receptor substrate 4							206.0	204.0	205.0					X																	107977753		2203	4300	6503	SO:0001587	stop_gained	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977753T>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1822A>T	X.37:g.107977753T>A	ENSP00000361202:p.Lys608*						p.K608*	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1898	-			608						Nonsense_Mutation	SNP	ENST00000372129.2	37	c.1822A>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	T	38	6.696633	0.97772	.	.	ENSG00000133124	ENST00000372129	.	.	.	4.77	4.77	0.60923	.	0.116050	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1376	13.1593	0.59535	0.0:0.0:0.0:1.0	.	.	.	.	X	608	.	ENSP00000361202:K608X	K	-	1	0	IRS4	107864409	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.745000	0.55119	1.757000	0.51966	0.417000	0.27973	AAA		0.542	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		438	489	0	0	0	1	0	438	489				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			8	573	0	0	0	1	0	8	573				
CCDC171	203238	broad.mit.edu	37	9	15678782	15678782	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:15678782A>T	ENST00000380701.3	+	10	1431	c.1103A>T	c.(1102-1104)aAt>aTt	p.N368I	CCDC171_ENST00000297641.3_Missense_Mutation_p.N368I	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	368	Glu-rich.																TTCTCCAAAAATAAGAAACTA	0.308																																						ENST00000380701.3																			0											c.(1102-1104)aAt>aTt		coiled-coil domain containing 171							44.0	45.0	45.0					9																	15678782		2202	4293	6495	SO:0001583	missense	203238							g.chr9:15678782A>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1103A>T	9.37:g.15678782A>T	ENSP00000370077:p.Asn368Ile					CCDC171_ENST00000297641.3_Missense_Mutation_p.N368I	p.N368I	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			10	1431	+			368			Glu-rich.		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.1103A>T	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001777	0.54254	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.15603	2.41;2.42	4.65	3.48	0.39840	.	0.284229	0.38436	N	0.001694	T	0.18383	0.0441	N	0.24115	0.695	0.80722	D	1	P;P;P	0.48016	0.904;0.904;0.904	P;P;P	0.53006	0.648;0.715;0.648	T	0.01657	-1.1302	10	0.39692	T	0.17	-0.7364	10.4109	0.44291	0.8358:0.1641:0.0:0.0	.	368;368;368	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	I	368	ENSP00000297641:N368I;ENSP00000370077:N368I	ENSP00000297641:N368I	N	+	2	0	C9orf93	15668782	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.389000	0.59639	0.707000	0.31934	-0.501000	0.04562	AAT		0.308	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		47	184	0	0	0	1	0	47	184				
PCDHB7	56129	broad.mit.edu	37	5	140554036	140554036	+	Silent	SNP	G	G	T	rs17844465		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:140554036G>T	ENST00000231137.3	+	1	1794	c.1620G>T	c.(1618-1620)gcG>gcT	p.A540A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCCGCGCTGAGCAGCG	0.701																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1618-1620)gcG>gcT									44.0	49.0	47.0					5																	140554036		2201	4298	6499	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554036G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1620G>T	5.37:g.140554036G>T							p.A540A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1794	+			540			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1620G>T	CCDS4249.1																																																																																				0.701	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		8	495	1	0	0.00829132	1	0.00851693	8	495				
ARHGEF10	9639	broad.mit.edu	37	8	1882002	1882002	+	Missense_Mutation	SNP	A	A	G	rs573337230		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:1882002A>G	ENST00000398564.1	+	26	3191	c.3191A>G	c.(3190-3192)aAg>aGg	p.K1064R	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.K1001R|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.K1063R|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K1039R|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K1035R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1064					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AAAGTGATCAAGTTAGGCGTC	0.433																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(3187-3189)aAg>aGg		Rho guanine nucleotide exchange factor (GEF) 10							158.0	151.0	153.0					8																	1882002		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1882002A>G	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3191A>G	8.37:g.1882002A>G	ENSP00000381571:p.Lys1064Arg					ARHGEF10_ENST00000520359.1_Missense_Mutation_p.K1001R|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K1039R|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K1035R|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.K1064R	p.K1063R			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	27	3351	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	1064					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.3188A>G		.	.	.	.	.	.	.	.	.	.	A	5.753	0.323425	0.10900	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.11	2.74	0.32292	.	0.095581	0.64402	N	0.000001	T	0.27241	0.0668	L	0.41079	1.255	0.38419	D	0.946126	B;B	0.21520	0.057;0.004	B;B	0.25405	0.06;0.013	T	0.08371	-1.0725	10	0.23891	T	0.37	-32.4453	9.2439	0.37513	0.8544:0.0:0.1456:0.0	.	1001;1039	O15013-7;O15013-5	.;.	R	1039;1001;1063;1064;1035;683	ENSP00000340297:K1039R;ENSP00000427909:K1001R;ENSP00000431012:K1063R;ENSP00000381571:K1064R;ENSP00000262112:K1035R;ENSP00000427768:K683R	ENSP00000262112:K1035R	K	+	2	0	ARHGEF10	1869409	0.983000	0.35010	0.000000	0.03702	0.003000	0.03518	4.878000	0.63093	0.369000	0.24510	0.533000	0.62120	AAG		0.433	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				177	501	0	0	0	1	0	177	501				
ALG1L	200810	broad.mit.edu	37	3	125647387	125647387	+	IGR	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:125647387G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						ACCAGAAACTGTTTCCCTATG	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647387G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647387G>A								NR_024251.1						0	532	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		13	808	0	0	0	1	0	13	808				
ADAMTS10	81794	broad.mit.edu	37	19	8666006	8666006	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:8666006G>T	ENST00000597188.1	-	6	886	c.616C>A	c.(616-618)Cca>Aca	p.P206T	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.P206T	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	206						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGCCACCATGGCCGCCCTTTC	0.627																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(616-618)Cca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 10							27.0	28.0	28.0					19																	8666006		2202	4298	6500	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8666006G>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.616C>A	19.37:g.8666006G>T	ENSP00000471851:p.Pro206Thr					ADAMTS10_ENST00000597188.1_Missense_Mutation_p.P206T|ADAMTS10_ENST00000596709.1_5'UTR	p.P206T			Q9H324	ATS10_HUMAN			5	882	-			206					M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.616C>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.757132	0.31137	.	.	ENSG00000142303	ENST00000270328	T	0.59502	0.26	5.47	5.47	0.80525	.	0.254626	0.32401	N	0.006146	T	0.47210	0.1433	L	0.34521	1.04	0.28790	N	0.899372	B	0.06786	0.001	B	0.08055	0.003	T	0.24621	-1.0155	10	0.12766	T	0.61	.	18.3275	0.90259	0.0:0.0:1.0:0.0	.	206	Q9H324	ATS10_HUMAN	T	206	ENSP00000270328:P206T	ENSP00000270328:P206T	P	-	1	0	ADAMTS10	8572006	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	3.922000	0.56462	2.575000	0.86900	0.555000	0.69702	CCA		0.627	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		32	178	1	0	1.80694e-10	1	1.89478e-10	32	178				
APEH	327	broad.mit.edu	37	3	49723596	49723596	+	IGR	SNP	G	G	A	rs200900272		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:49723596G>A	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.P349L|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.P335L(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667																																						ENST00000449682.2																			5	Substitution - Missense(5)	p.P335L(5)	endometrium(3)|skin(2)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1045-1047)cCc>cTc		macrophage stimulating 1 (hepatocyte growth factor-like)							12.0	16.0	15.0					3																	49723596		2189	4280	6469	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723596G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723596G>A						MST1_ENST00000383728.3_3'UTR	p.P349L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1407	-			335			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1046C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499226	0.96355	.	.	ENSG00000173531	ENST00000449682	D	0.83250	-1.7	5.47	5.47	0.80525	.	0.000000	0.42053	D	0.000771	D	0.90256	0.6953	M	0.88450	2.955	0.80722	D	1	P	0.35793	0.521	P	0.46419	0.516	D	0.90879	0.4752	10	0.62326	D	0.03	.	18.9304	0.92563	0.0:0.0:1.0:0.0	.	349	G3XAK1	.	L	349	ENSP00000414287:P349L	ENSP00000414287:P349L	P	-	2	0	MST1	49698600	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.855000	0.99526	2.561000	0.86390	0.655000	0.94253	CCC		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	120	0	0	0	1	0	4	120				
TEKT5	146279	broad.mit.edu	37	16	10721628	10721628	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:10721628C>T	ENST00000283025.2	-	7	1341	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	424						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGCAGGGTGTCGTCGATGGTG	0.542																																						ENST00000283025.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(1270-1272)Gac>Aac		tektin 5							50.0	43.0	45.0					16																	10721628		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10721628C>T		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1270G>A	16.37:g.10721628C>T	ENSP00000283025:p.Asp424Asn					TEKT5_ENST00000574923.1_5'UTR	p.D424N	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN			7	1341	-			424					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.1270G>A	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688739	0.48097	.	.	ENSG00000153060	ENST00000283025	T	0.02525	4.26	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000009	T	0.04724	0.0128	L	0.49513	1.565	0.58432	D	0.999996	B	0.25521	0.128	B	0.26517	0.07	T	0.43718	-0.9374	10	0.36615	T	0.2	-37.626	15.4575	0.75327	0.0:1.0:0.0:0.0	.	424	Q96M29	TEKT5_HUMAN	N	424	ENSP00000283025:D424N	ENSP00000283025:D424N	D	-	1	0	TEKT5	10629129	1.000000	0.71417	0.981000	0.43875	0.308000	0.27856	5.521000	0.67086	2.432000	0.82394	0.505000	0.49811	GAC		0.542	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		8	220	0	0	0	1	0	8	220				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		14	279	0	0	0	1	0	14	279				
SLC30A8	169026	broad.mit.edu	37	8	118165302	118165302	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:118165302C>T	ENST00000456015.2	+	3	391	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	SLC30A8_ENST00000519688.1_Missense_Mutation_p.R82W|SLC30A8_ENST00000521243.1_Missense_Mutation_p.R82W|SLC30A8_ENST00000427715.2_Missense_Mutation_p.R82W	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	131					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCCCTCTAAGCGGCTGACATT	0.507																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(244-246)Cgg>Tgg		solute carrier family 30 (zinc transporter), member 8							120.0	88.0	98.0					8																	118165302		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118165302C>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.391C>T	8.37:g.118165302C>T	ENSP00000415011:p.Arg131Trp					SLC30A8_ENST00000519688.1_Missense_Mutation_p.R82W|SLC30A8_ENST00000456015.2_Missense_Mutation_p.R131W|SLC30A8_ENST00000521243.1_Missense_Mutation_p.R82W	p.R82W	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		6	678	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		131					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.244C>T	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024966	0.54683	.	.	ENSG00000164756	ENST00000521243;ENST00000524274;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.37	0.822	0.18806	.	0.812377	0.11451	N	0.562795	T	0.78104	0.4231	M	0.82923	2.615	0.09310	N	0.999999	D	0.65815	0.995	P	0.61722	0.893	T	0.70912	-0.4743	10	0.72032	D	0.01	-1.0271	15.0224	0.71640	0.69:0.31:0.0:0.0	.	131	Q8IWU4	ZNT8_HUMAN	W	82;82;82;82;131	ENSP00000428545:R82W;ENSP00000427760:R82W;ENSP00000407505:R82W;ENSP00000431069:R82W;ENSP00000415011:R131W	ENSP00000407505:R82W	R	+	1	2	SLC30A8	118234483	0.046000	0.20272	0.094000	0.20943	0.336000	0.28762	0.600000	0.24104	0.243000	0.21327	0.655000	0.94253	CGG		0.507	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		37	140	0	0	0	1	0	37	140				
MYRF	745	broad.mit.edu	37	11	61549234	61549234	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:61549234G>A	ENST00000278836.5	+	22	3050	c.2954G>A	c.(2953-2955)cGc>cAc	p.R985H	MYRF_ENST00000389602.4_Missense_Mutation_p.R376H|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.R950H	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	985					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGCCGGGCCCGCCGAGGGGCC	0.687																																						ENST00000278836.5																			0											c.(2953-2955)cGc>cAc		myelin regulatory factor							22.0	28.0	26.0					11																	61549234		2200	4289	6489	SO:0001583	missense	745							g.chr11:61549234G>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2954G>A	11.37:g.61549234G>A	ENSP00000278836:p.Arg985His					MYRF_ENST00000389602.4_Missense_Mutation_p.R376H|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.R950H	p.R985H	NM_001127392.1	NP_001120864.1					22	3050	+								O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.2954G>A	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692483	0.68271	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.34472	1.39;1.37;1.36	4.18	3.17	0.36434	.	0.248147	0.40554	N	0.001069	T	0.28665	0.0710	N	0.19112	0.55	0.80722	D	1	D;D;D	0.64830	0.99;0.994;0.99	P;P;P	0.50754	0.649;0.573;0.556	T	0.03863	-1.0997	10	0.72032	D	0.01	-30.166	6.972	0.24654	0.0:0.2891:0.5476:0.1634	.	376;950;985	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	H	985;950;376	ENSP00000278836:R985H;ENSP00000265460:R950H;ENSP00000374253:R376H	ENSP00000265460:R950H	R	+	2	0	C11orf9	61305810	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.889000	0.39718	2.273000	0.75805	0.561000	0.74099	CGC		0.687	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		94	193	0	0	0	1	0	94	193				
IGJ	3512	broad.mit.edu	37	4	71522118	71522118	+	Silent	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:71522118G>T	ENST00000254801.4	-	4	577	c.408C>A	c.(406-408)gtC>gtA	p.V136V	ENAM_ENST00000472903.1_Intron|IGJ_ENST00000543780.1_Silent_p.V152V	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	136					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			ATACGAGTGGGACCACAGCTG	0.453																																						ENST00000254801.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(406-408)gtC>gtA		immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides							184.0	148.0	160.0					4																	71522118		2203	4300	6503	SO:0001819	synonymous_variant	3512				immune response	extracellular region	antigen binding	g.chr4:71522118G>T	M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"""Immunoglobulins / IGJ linker"""	5713	protein-coding gene	gene with protein product	"""immunoglobulin J chain"", ""IgJ chain"""	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.408C>A	4.37:g.71522118G>T						IGJ_ENST00000543780.1_Silent_p.V152V|ENAM_ENST00000472903.1_Intron	p.V136V	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	Lung(101;0.235)		4	577	-			136						Silent	SNP	ENST00000254801.4	37	c.408C>A	CCDS3545.1																																																																																				0.453	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	NM_144646		74	224	1	0	2.23852e-25	1	2.43178e-25	74	224				
USP42	84132	broad.mit.edu	37	7	6189801	6189801	+	Silent	SNP	C	C	T	rs546255931		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:6189801C>T	ENST00000306177.5	+	13	2132	c.1974C>T	c.(1972-1974)aaC>aaT	p.N658N		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	658					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TGACCCTAAACGGTGCTAATA	0.567																																						ENST00000306177.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1972-1974)aaC>aaT		ubiquitin specific peptidase 42							37.0	42.0	40.0					7																	6189801		2043	4194	6237	SO:0001819	synonymous_variant	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189801C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1974C>T	7.37:g.6189801C>T							p.N658N	NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	13	2132	+		Ovarian(82;0.0423)	658					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	c.1974C>T	CCDS47535.1																																																																																				0.567	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		34	134	0	0	0	1	0	34	134				
GLI3	2737	broad.mit.edu	37	7	42079807	42079807	+	Silent	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:42079807G>T	ENST00000395925.3	-	7	942	c.858C>A	c.(856-858)gcC>gcA	p.A286A	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	286					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGCTCGGCCTGGCTGACAGCC	0.468									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(856-858)gcC>gcA		GLI family zinc finger 3							144.0	132.0	136.0					7																	42079807		2203	4300	6503	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42079807G>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.858C>A	7.37:g.42079807G>T						GLI3_ENST00000479210.1_5'UTR	p.A286A	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			7	942	-			286					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.858C>A	CCDS5465.1																																																																																				0.468	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		50	431	1	0	2.76378e-25	1	2.98094e-25	50	431				
NUAK1	9891	broad.mit.edu	37	12	106461627	106461627	+	Silent	SNP	G	G	A	rs143829749		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:106461627G>A	ENST00000261402.2	-	7	2318	c.939C>T	c.(937-939)agC>agT	p.S313S		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	313					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AGTCACACACGCTGCTCTTAT	0.587																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(937-939)agC>agT		NUAK family, SNF1-like kinase, 1		G		1,4405	2.1+/-5.4	0,1,2202	76.0	65.0	69.0		939	-3.0	0.8	12	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUAK1	NM_014840.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		313/662	106461627	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106461627G>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.939C>T	12.37:g.106461627G>A							p.S313S	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			7	2318	-			313					A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	c.939C>T	CCDS31892.1																																																																																				0.587	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		71	263	0	0	0	1	0	71	263				
USH2A	7399	broad.mit.edu	37	1	216496975	216496975	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:216496975C>T	ENST00000307340.3	-	8	1777	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H	USH2A_ENST00000366943.2_Missense_Mutation_p.R464H|USH2A_ENST00000366942.3_Missense_Mutation_p.R464H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	464	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.		R -> C (in USH2A; unknown pathological significance). {ECO:0000269|PubMed:15325563}.		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)		GTATCCAGGACGATAATTTGG	0.373										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.(1390-1392)cGt>cAt		Usher syndrome 2A (autosomal recessive, mild)							138.0	140.0	140.0					1																	216496975		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.chr1:216496975C>T	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.1391G>A	1.37:g.216496975C>T	ENSP00000305941:p.Arg464His	HNSCC(13;0.011)				USH2A_ENST00000366942.3_Missense_Mutation_p.R464H|USH2A_ENST00000307340.3_Missense_Mutation_p.R464H	p.R464H			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	8	1777	-			464		R -> C (in USH2A; uncertain pathogenicity).	Laminin N-terminal.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1391G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143821	0.94603	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.25579	2.16;2.15;1.79	5.23	5.23	0.72850	Laminin, N-terminal (3);	0.000000	0.42420	D	0.000719	T	0.61986	0.2391	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.987;1.0	T	0.72093	-0.4394	10	0.87932	D	0	.	18.8157	0.92076	0.0:1.0:0.0:0.0	.	464;464	O75445-2;O75445	.;USH2A_HUMAN	H	464	ENSP00000305941:R464H;ENSP00000355910:R464H;ENSP00000355909:R464H	ENSP00000305941:R464H	R	-	2	0	USH2A	214563598	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.485000	0.66850	2.424000	0.82194	0.655000	0.94253	CGT		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		179	646	0	0	0	1	0	179	646				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		11	583	0	0	0	1	0	11	583				
PRICKLE1	144165	broad.mit.edu	37	12	42854329	42854329	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:42854329T>C	ENST00000455697.1	-	8	2063	c.1778A>G	c.(1777-1779)gAg>gGg	p.E593G	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E593G|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E593G|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E593G|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E593G|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	593					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTTTAAGGACTCTGCACTCCT	0.438																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(1777-1779)gAg>gGg		prickle homolog 1 (Drosophila)							139.0	132.0	135.0					12																	42854329		2203	4300	6503	SO:0001583	missense	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42854329T>C	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1778A>G	12.37:g.42854329T>C	ENSP00000401060:p.Glu593Gly					RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E593G|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E593G|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E593G|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E593G	p.E593G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2063	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		593					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.1778A>G	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284911	0.59867	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	5.56	5.56	0.83823	.	0.198871	0.52532	D	0.000063	T	0.62648	0.2445	L	0.61218	1.895	0.52501	D	0.999951	P	0.36222	0.544	B	0.27887	0.084	T	0.68398	-0.5419	10	0.87932	D	0	-11.3229	16.0186	0.80464	0.0:0.0:0.0:1.0	.	593	Q96MT3	PRIC1_HUMAN	G	593	ENSP00000401060:E593G;ENSP00000398947:E593G;ENSP00000448359:E593G;ENSP00000345064:E593G;ENSP00000449819:E593G	ENSP00000345064:E593G	E	-	2	0	PRICKLE1	41140596	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	4.756000	0.62205	2.244000	0.73946	0.528000	0.53228	GAG		0.438	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			168	690	0	0	0	1	0	168	690				
BPIFB1	92747	broad.mit.edu	37	20	31876575	31876575	+	Silent	SNP	C	C	T	rs150828161		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:31876575C>T	ENST00000253354.1	+	3	305	c.144C>T	c.(142-144)aaC>aaT	p.N48N		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	48					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										AGGACCACAACGCCACCAGCA	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		18966	0.0		0.001	False		,,,				2504	0.0					ENST00000253354.1																			0											c.(142-144)aaC>aaT		BPI fold containing family B, member 1		C		0,4406		0,0,2203	50.0	49.0	49.0		144	-7.5	0.0	20	dbSNP_134	49	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	BPIFB1	NM_033197.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		48/485	31876575	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	92747					extracellular space	lipid binding	g.chr20:31876575C>T	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.144C>T	20.37:g.31876575C>T							p.N48N	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN			3	305	+			48					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Silent	SNP	ENST00000253354.1	37	c.144C>T	CCDS13218.1																																																																																				0.642	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		65	205	0	0	0	1	0	65	205				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		14	821	0	0	0	1	0	14	821				
NBPF10	100132406	broad.mit.edu	37	1	145323670	145323670	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:145323670A>C	ENST00000342960.5	+	27	3542	c.3507A>C	c.(3505-3507)gaA>gaC	p.E1169D	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	756						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAAAGGACGAAGAAGAGGAAG	0.463																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3505-3507)gaA>gaC		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145323670A>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3507A>C	1.37:g.145323670A>C	ENSP00000345684:p.Glu1169Asp					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E1169D	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	27	3542	+	all_hematologic(923;0.032)		1169					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3507A>C	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	2.408	-0.335916	0.05278	.	.	ENSG00000163386	ENST00000342960	T	0.03242	4.0	.	.	.	.	.	.	.	.	T	0.00440	0.0014	N	0.03608	-0.345	0.09310	N	1	.	.	.	.	.	.	T	0.43750	-0.9372	5	0.31617	T	0.26	.	.	.	.	.	.	.	.	D	1169	ENSP00000345684:E1169D	ENSP00000345684:E1169D	E	+	3	2	NBPF10	144035027	0.005000	0.15991	0.002000	0.10522	0.087000	0.18053	-0.908000	0.04063	-0.792000	0.04480	0.128000	0.15822	GAA		0.463	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		122	4193	0	0	0	1	0	122	4193				
SPACA7	122258	broad.mit.edu	37	13	113053418	113053418	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:113053418G>A	ENST00000283550.3	+	4	347	c.280G>A	c.(280-282)Gag>Aag	p.E94K	SPACA7_ENST00000375699.3_Missense_Mutation_p.E63K	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	94						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TGGTGGTTCTGAGAATTACCA	0.353																																						ENST00000375699.3																			0				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						c.(187-189)Gag>Aag		sperm acrosome associated 7							89.0	91.0	90.0					13																	113053418		2203	4300	6503	SO:0001583	missense	122258					extracellular region		g.chr13:113053418G>A	BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 28"""	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.280G>A	13.37:g.113053418G>A	ENSP00000283550:p.Glu94Lys					SPACA7_ENST00000283550.3_Missense_Mutation_p.E94K	p.E63K			Q96KW9	SPAC7_HUMAN			3	359	+			94					Q5T8L1	Missense_Mutation	SNP	ENST00000283550.3	37	c.187G>A	CCDS9524.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494488	0.26774	.	.	ENSG00000153498	ENST00000283550;ENST00000414180;ENST00000443541;ENST00000375699	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	2.98	2.1	0.27182	.	.	.	.	.	T	0.42449	0.1203	L	0.29908	0.895	0.09310	N	1	D	0.54207	0.965	P	0.50049	0.629	T	0.23048	-1.0199	9	0.87932	D	0	-9.0944	8.1132	0.30926	0.0:0.3265:0.6735:0.0	.	94	Q96KW9	SPAC7_HUMAN	K	94;82;80;63	ENSP00000283550:E94K;ENSP00000416096:E82K;ENSP00000406733:E80K;ENSP00000364851:E63K	ENSP00000283550:E94K	E	+	1	0	SPACA7	112101419	0.000000	0.05858	0.026000	0.17262	0.065000	0.16274	-0.208000	0.09371	0.743000	0.32719	0.650000	0.86243	GAG		0.353	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	NM_145248		35	160	0	0	0	1	0	35	160				
ESCO2	157570	broad.mit.edu	37	8	27634027	27634027	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:27634027C>T	ENST00000305188.8	+	3	440	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR|RNU6-1276P_ENST00000365372.1_RNA	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	68					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AATAAATAGACTGCCATCAGC	0.368									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(202-204)Ctg>Ttg		establishment of sister chromatid cohesion N-acetyltransferase 2							60.0	59.0	59.0					8																	27634027		2203	4300	6503	SO:0001819	synonymous_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634027C>T	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.202C>T	8.37:g.27634027C>T						ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	p.L68L	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	440	+		Ovarian(32;0.000953)	68					B3KW59|Q49AP4	Silent	SNP	ENST00000305188.8	37	c.202C>T	CCDS34872.1																																																																																				0.368	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		68	182	0	0	0	1	0	68	182				
SDHAP1	255812	broad.mit.edu	37	3	195710989	195710989	+	RNA	SNP	G	G	A	rs2620604	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:195710989G>A	ENST00000427841.1	-	0	743					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTACCCTCCCGTATAAGGTGT	0.617													-|||	1592	0.317891	0.1876	0.3429	5008	,	,		25908	0.4315		0.3131	False		,,,				2504	0.364				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195710989G>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195710989G>A								NR_003264.2						0	743	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.617	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			9	331	0	0	0	1	0	9	331				
ZNF534	147658	broad.mit.edu	37	19	52942354	52942354	+	Silent	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:52942354A>G	ENST00000332323.6	+	4	1741	c.1680A>G	c.(1678-1680)gaA>gaG	p.E560E	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Silent_p.E547E|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATACTGGAGAAAAGCCTTACA	0.433																																						ENST00000332323.6																			0				central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(1678-1680)gaA>gaG		zinc finger protein 534							86.0	82.0	83.0					19																	52942354		692	1591	2283	SO:0001819	synonymous_variant	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942354A>G	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1680A>G	19.37:g.52942354A>G						ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Silent_p.E547E	p.E560E	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN			4	1741	+			560					Q76KX9	Silent	SNP	ENST00000332323.6	37	c.1680A>G	CCDS46165.1																																																																																				0.433	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		4	69	0	0	0	1	0	4	69				
LTB4R	1241	broad.mit.edu	37	14	24785420	24785420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:24785420C>T	ENST00000396789.4	+	2	2288	c.563C>T	c.(562-564)aCg>aTg	p.T188M	LTB4R_ENST00000345363.3_Missense_Mutation_p.T188M|LTB4R_ENST00000396782.2_Missense_Mutation_p.T188M	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	188					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GAGGCTGTCACGGGCTTCCTG	0.667																																						ENST00000396789.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8						c.(562-564)aCg>aTg		leukotriene B4 receptor							49.0	52.0	51.0					14																	24785420		2203	4300	6503	SO:0001583	missense	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785420C>T	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"""GPCR / Class A : Leukotriene receptors"""	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.563C>T	14.37:g.24785420C>T	ENSP00000380008:p.Thr188Met					LTB4R_ENST00000345363.3_Missense_Mutation_p.T188M|LTB4R_ENST00000396782.2_Missense_Mutation_p.T188M	p.T188M	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	2288	+			188					Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	c.563C>T	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957500	0.53400	.	.	ENSG00000213903	ENST00000345363;ENST00000396789;ENST00000556141;ENST00000396782	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.204720	0.41938	U	0.000790	T	0.37073	0.0990	N	0.25332	0.735	0.35269	D	0.780254	D	0.61697	0.99	P	0.55011	0.766	T	0.41716	-0.9493	10	0.35671	T	0.21	.	10.7916	0.46436	0.0:0.9141:0.0:0.0859	.	188	Q15722	LT4R1_HUMAN	M	188;188;88;188	ENSP00000307445:T188M;ENSP00000380008:T188M;ENSP00000451929:T88M;ENSP00000380002:T188M	ENSP00000307445:T188M	T	+	2	0	LTB4R	23855260	0.004000	0.15560	0.997000	0.53966	0.955000	0.61496	1.769000	0.38522	2.709000	0.92574	0.655000	0.94253	ACG		0.667	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			138	331	0	0	0	1	0	138	331				
NAALADL1	10004	broad.mit.edu	37	11	64812163	64812163	+	IGR	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:64812163A>C	ENST00000358658.3	-	0	2699				SAC3D1_ENST00000530213.1_3'UTR|SAC3D1_ENST00000398846.1_Missense_Mutation_p.E347D|SAC3D1_ENST00000531072.1_Missense_Mutation_p.E347D	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CAGAGGAGGAAGATGAGGGCA	0.602																																						ENST00000398846.1																			0				endometrium(2)|lung(1)	3						c.(1039-1041)gaA>gaC		SAC3 domain containing 1							51.0	55.0	54.0					11																	64812163		2128	4223	6351	SO:0001628	intergenic_variant	29901							g.chr11:64812163A>C	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595		11.37:g.64812163A>C						SAC3D1_ENST00000531072.1_Missense_Mutation_p.E347D|SAC3D1_ENST00000530213.1_3'UTR	p.E347D	NM_013299.3	NP_037431.3					2	1430	+								C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.1041A>C	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298035	0.23650	.	.	ENSG00000168061	ENST00000531072;ENST00000398846;ENST00000301885	T;T	0.31510	1.49;1.49	4.24	0.609	0.17575	.	0.689101	0.11980	N	0.510852	T	0.15782	0.0380	L	0.27053	0.805	0.20307	N	0.999911	B	0.12013	0.005	B	0.06405	0.002	T	0.29488	-1.0010	10	0.15952	T	0.53	-1.5817	3.1984	0.06641	0.3353:0.2503:0.4144:0.0	.	393	A6NKF1	SAC31_HUMAN	D	347;347;392	ENSP00000436649:E347D;ENSP00000381824:E347D	ENSP00000301885:E392D	E	+	3	2	SAC3D1	64568739	0.017000	0.18338	0.948000	0.38648	0.523000	0.34469	-0.945000	0.03909	0.268000	0.21939	0.528000	0.53228	GAA		0.602	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		33	231	0	0	0	1	0	33	231				
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G	rs201502468		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTTGTACTAGAAACAGACC	0.552																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711423A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711423A>G								NR_003264.2						0	524	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.552	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	207	0	0	0	1	0	5	207				
P2RY6	5031	broad.mit.edu	37	11	73008405	73008405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:73008405C>T	ENST00000393590.2	+	2	1141	c.842C>T	c.(841-843)gCg>gTg	p.A281V	P2RY6_ENST00000538328.1_Missense_Mutation_p.A281V|P2RY6_ENST00000540124.1_Missense_Mutation_p.A281V|P2RY6_ENST00000393592.2_Missense_Mutation_p.A281V|P2RY6_ENST00000540342.1_Missense_Mutation_p.A281V|P2RY6_ENST00000393591.1_Missense_Mutation_p.A281V|P2RY6_ENST00000349767.2_Missense_Mutation_p.A281V|P2RY6_ENST00000542092.1_Missense_Mutation_p.A281V	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	281					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GCCTTTGCAGCGGCCTACAAA	0.602																																						ENST00000393590.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						c.(841-843)gCg>gTg		pyrimidinergic receptor P2Y, G-protein coupled, 6							55.0	56.0	55.0					11																	73008405		2199	4292	6491	SO:0001583	missense	0				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73008405C>T		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.842C>T	11.37:g.73008405C>T	ENSP00000377215:p.Ala281Val					P2RY6_ENST00000538328.1_Missense_Mutation_p.A281V|P2RY6_ENST00000540342.1_Missense_Mutation_p.A281V|P2RY6_ENST00000349767.2_Missense_Mutation_p.A281V|P2RY6_ENST00000393591.1_Missense_Mutation_p.A281V|P2RY6_ENST00000393592.2_Missense_Mutation_p.A281V|P2RY6_ENST00000542092.1_Missense_Mutation_p.A281V|P2RY6_ENST00000540124.1_Missense_Mutation_p.A281V	p.A281V	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN			2	1141	+			281					Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	c.842C>T	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.157720	0.01686	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000538328	T;T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63	4.81	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.302347	0.31734	N	0.007143	T	0.03608	0.0103	N	0.02247	-0.625	0.09310	N	1	B	0.24651	0.108	B	0.16289	0.015	T	0.41875	-0.9484	10	0.02654	T	1	.	6.2522	0.20852	0.0:0.7162:0.0:0.2838	.	281	Q15077	P2RY6_HUMAN	V	281	ENSP00000443427:A281V;ENSP00000445652:A281V;ENSP00000309771:A281V;ENSP00000377217:A281V;ENSP00000377216:A281V;ENSP00000442551:A281V;ENSP00000377215:A281V;ENSP00000442990:A281V	ENSP00000309771:A281V	A	+	2	0	P2RY6	72686053	0.964000	0.33143	0.016000	0.15963	0.306000	0.27790	3.836000	0.55813	1.383000	0.46405	0.655000	0.94253	GCG		0.602	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			64	424	0	0	0	1	0	64	424				
DPY19L1	23333	broad.mit.edu	37	7	35051048	35051048	+	Silent	SNP	A	A	G	rs184950994		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:35051048A>G	ENST00000310974.4	-	5	489	c.345T>C	c.(343-345)agT>agC	p.S115S		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	115						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCCGGTACCAACTGGCCAAAA	0.323																																						ENST00000310974.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(343-345)agT>agC		dpy-19-like 1 (C. elegans)							56.0	50.0	52.0					7																	35051048		1802	4070	5872	SO:0001819	synonymous_variant	23333					integral to membrane		g.chr7:35051048A>G	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.345T>C	7.37:g.35051048A>G							p.S115S	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			5	489	-			115					O94954|Q4G151	Silent	SNP	ENST00000310974.4	37	c.345T>C	CCDS43567.1																																																																																				0.323	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			8	309	0	0	0	1	0	8	309				
SDHAP1	255812	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:195711466G>T	ENST00000427841.1	-	0	481					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GCCCATCACCGCGACCATGGC	0.582																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711466G>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711466G>T								NR_003264.2						0	481	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.582	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			9	322	1	0	0.0581538	1	0.0589344	9	322				
UNC5D	137970	broad.mit.edu	37	8	35647893	35647893	+	Missense_Mutation	SNP	G	G	A	rs374094705		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:35647893G>A	ENST00000404895.2	+	17	3002	c.2674G>A	c.(2674-2676)Gct>Act	p.A892T	UNC5D_ENST00000449677.1_Missense_Mutation_p.A468T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A825T|AC012215.1_ENST00000437887.1_5'Flank|UNC5D_ENST00000453357.2_Missense_Mutation_p.A887T|UNC5D_ENST00000416672.1_Missense_Mutation_p.A897T|UNC5D_ENST00000287272.2_Missense_Mutation_p.A823T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	892	Death.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ATCTTATTTCGCTACACAAAG	0.393																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(2467-2469)Gct>Act		unc-5 homolog D (C. elegans)		G	THR/ALA	0,4406		0,0,2203	114.0	101.0	106.0		2674	5.7	1.0	8		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC5D	NM_080872.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	892/954	35647893	1,13005	2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35647893G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2674G>A	8.37:g.35647893G>A	ENSP00000385143:p.Ala892Thr					UNC5D_ENST00000416672.1_Missense_Mutation_p.A897T|UNC5D_ENST00000404895.2_Missense_Mutation_p.A892T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A887T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A825T|UNC5D_ENST00000449677.1_Missense_Mutation_p.A468T	p.A823T			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	16	2487	+			892					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2467G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470526	0.84533	0.0	1.16E-4	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.72	5.72	0.89469	Death (2);DEATH-like (2);	0.049286	0.85682	D	0.000000	D	0.86694	0.5994	L	0.52011	1.625	0.58432	D	0.999999	P;P;P	0.52692	0.955;0.944;0.955	P;B;B	0.48598	0.583;0.177;0.271	D	0.87244	0.2268	10	0.59425	D	0.04	-14.2436	19.873	0.96856	0.0:0.0:1.0:0.0	.	468;887;892	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	T	892;825;823;897;887;468	ENSP00000385143:A892T;ENSP00000392739:A825T;ENSP00000287272:A823T;ENSP00000412652:A897T;ENSP00000394303:A887T;ENSP00000397211:A468T	ENSP00000287272:A823T	A	+	1	0	UNC5D	35767435	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.497000	0.81536	2.705000	0.92388	0.557000	0.71058	GCT		0.393	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			114	392	0	0	0	1	0	114	392				
SEC24C	9632	broad.mit.edu	37	10	75530836	75530836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:75530836C>T	ENST00000339365.2	+	24	3430	c.3268C>T	c.(3268-3270)Cgg>Tgg	p.R1090W	FUT11_ENST00000394790.1_5'Flank|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000540668.1_Missense_Mutation_p.R338W|SEC24C_ENST00000411652.2_Missense_Mutation_p.R971W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R1090W|SEC24C_ENST00000535742.1_Missense_Mutation_p.R338W	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	1090					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAAGGAGATTCGGCAGCTACT	0.488																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(3268-3270)Cgg>Tgg		SEC24 family member C							154.0	151.0	152.0					10																	75530836		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75530836C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.3268C>T	10.37:g.75530836C>T	ENSP00000343405:p.Arg1090Trp					SEC24C_ENST00000411652.2_Missense_Mutation_p.R971W|SEC24C_ENST00000535742.1_Missense_Mutation_p.R338W|SEC24C_ENST00000540668.1_Missense_Mutation_p.R338W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R1090W	p.R1090W	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			24	3430	+	Prostate(51;0.0112)		1090					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.3268C>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909189	0.72868	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.59662	0.2210	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64410	0.925;0.925	T	0.64132	-0.6479	10	0.66056	D	0.02	-11.7174	15.3963	0.74798	0.1392:0.8608:0.0:0.0	.	971;1090	E7EP00;P53992	.;SC24C_HUMAN	W	338;1090;338;1090;971	ENSP00000446174:R338W;ENSP00000321845:R1090W;ENSP00000445023:R338W;ENSP00000343405:R1090W;ENSP00000402913:R971W	ENSP00000343405:R1090W	R	+	1	2	SEC24C	75200842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.767000	0.62286	2.894000	0.99253	0.591000	0.81541	CGG		0.488	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			185	412	0	0	0	1	0	185	412				
KCNC4	3749	broad.mit.edu	37	1	110754459	110754459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:110754459G>A	ENST00000369787.3	+	1	365	c.338G>A	c.(337-339)gGc>gAc	p.G113D	KCNC4_ENST00000413138.3_Missense_Mutation_p.G113D|KCNC4_ENST00000438661.2_Missense_Mutation_p.G113D|KCNC4-AS1_ENST00000455967.1_RNA	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	113					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TACCGCACCGGCAAGCTGCAC	0.672																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(337-339)gGc>gAc		potassium voltage-gated channel, Shaw-related subfamily, member 4							42.0	48.0	46.0					1																	110754459		2203	4299	6502	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754459G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.338G>A	1.37:g.110754459G>A	ENSP00000358802:p.Gly113Asp					KCNC4_ENST00000413138.3_Missense_Mutation_p.G113D|KCNC4_ENST00000438661.2_Missense_Mutation_p.G113D	p.G113D	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	365	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	113					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.338G>A	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635059	0.87760	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	T;T;T	0.79940	-1.32;-1.32;-1.32	4.15	4.15	0.48705	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.057921	0.64402	D	0.000002	D	0.90954	0.7156	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.93638	0.6962	10	0.87932	D	0	.	16.0484	0.80735	0.0:0.0:1.0:0.0	.	113;113;113	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	D	113	ENSP00000358802:G113D;ENSP00000388029:G113D;ENSP00000393655:G113D	ENSP00000358802:G113D	G	+	2	0	KCNC4	110555982	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.641000	0.98458	1.871000	0.54225	0.561000	0.74099	GGC		0.672	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		5	214	0	0	0	1	0	5	214				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		9	316	0	0	0	1	0	9	316				
CTSF	8722	broad.mit.edu	37	11	66333389	66333389	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:66333389C>A	ENST00000310325.5	-	7	986	c.877G>T	c.(877-879)Ggc>Tgc	p.G293C	ACTN3_ENST00000513398.1_RNA|CTSF_ENST00000533168.1_5'Flank|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	293					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGCAGGAGCCACACATGCCC	0.622																																						ENST00000310325.5																			0				endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(877-879)Ggc>Tgc		cathepsin F							50.0	49.0	49.0					11																	66333389		2200	4295	6495	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66333389C>A	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.877G>T	11.37:g.66333389C>A	ENSP00000310832:p.Gly293Cys						p.G293C	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN			7	986	-			293					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.877G>T	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.870856|4.870856	0.91587|0.91587	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000310325|ENST00000524994	D|.	0.93659|.	-3.26|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Peptidase C1A, papain C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90957|0.90957	0.7157|0.7157	H|H	0.99058|0.99058	4.415|4.415	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94151|0.94151	0.7405|0.7405	10|5	0.87932|.	D|.	0|.	.|.	17.339|17.339	0.87291|0.87291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	293|.	Q9UBX1|.	CATF_HUMAN|.	C|L	293|140	ENSP00000310832:G293C|.	ENSP00000310832:G293C|.	G|W	-|-	1|2	0|0	CTSF|CTSF	66089965|66089965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	4.866000|4.866000	0.63005|0.63005	2.779000|2.779000	0.95612|0.95612	0.591000|0.591000	0.81541|0.81541	GGC|TGG		0.622	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		76	173	1	0	4.98926e-31	1	5.49911e-31	76	173				
FN1	2335	broad.mit.edu	37	2	216288871	216288871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:216288871G>A	ENST00000359671.1	-	8	1479	c.1214C>T	c.(1213-1215)aCt>aTt	p.T405I	FN1_ENST00000346544.3_Missense_Mutation_p.T405I|FN1_ENST00000357009.2_Missense_Mutation_p.T405I|FN1_ENST00000421182.1_Missense_Mutation_p.T405I|FN1_ENST00000345488.5_Missense_Mutation_p.T405I|FN1_ENST00000357867.4_Missense_Mutation_p.T405I|FN1_ENST00000446046.1_Missense_Mutation_p.T405I|FN1_ENST00000443816.1_Missense_Mutation_p.T405I|FN1_ENST00000356005.4_Missense_Mutation_p.T405I|FN1_ENST00000354785.4_Missense_Mutation_p.T405I|FN1_ENST00000323926.6_Missense_Mutation_p.T405I|FN1_ENST00000432072.2_Missense_Mutation_p.T405I|FN1_ENST00000426059.1_Missense_Mutation_p.T405I|FN1_ENST00000336916.4_Missense_Mutation_p.T405I			P02751	FINC_HUMAN	fibronectin 1	405	Collagen-binding.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ACACTCACCAGTGTGGTCTGT	0.488																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1213-1215)aCt>aTt		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						125.0	106.0	113.0					2																	216288871		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216288871G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1214C>T	2.37:g.216288871G>A	ENSP00000352696:p.Thr405Ile					FN1_ENST00000446046.1_Missense_Mutation_p.T405I|FN1_ENST00000336916.4_Missense_Mutation_p.T405I|FN1_ENST00000443816.1_Missense_Mutation_p.T405I|FN1_ENST00000432072.2_Missense_Mutation_p.T405I|FN1_ENST00000323926.6_Missense_Mutation_p.T405I|FN1_ENST00000421182.1_Missense_Mutation_p.T405I|FN1_ENST00000359671.1_Missense_Mutation_p.T405I|FN1_ENST00000357867.4_Missense_Mutation_p.T405I|FN1_ENST00000357009.2_Missense_Mutation_p.T405I|FN1_ENST00000356005.4_Missense_Mutation_p.T405I|FN1_ENST00000345488.5_Missense_Mutation_p.T405I|FN1_ENST00000426059.1_Missense_Mutation_p.T405I|FN1_ENST00000346544.3_Missense_Mutation_p.T405I	p.T405I			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1583	-		Renal(323;0.127)	405			Collagen-binding.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1214C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.068483	0.76301	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;2.14;2.32;0.86;2.38;2.02;2.36;2.02;2.31;2.06;1.55;0.85;1.45;1.47	5.97	5.97	0.96955	.	0.537042	0.19271	N	0.118405	T	0.51822	0.1697	L	0.29908	0.895	0.36489	D	0.868311	B;P;B;D;B;B;P;P;B;B;P	0.60575	0.073;0.839;0.198;0.988;0.265;0.173;0.511;0.843;0.265;0.265;0.715	B;P;B;P;B;B;B;B;B;B;B	0.60609	0.083;0.452;0.135;0.877;0.13;0.061;0.239;0.128;0.13;0.13;0.39	T	0.59156	-0.7507	10	0.66056	D	0.02	.	10.327	0.43798	0.0:0.1207:0.6964:0.1828	.	405;405;405;405;405;405;405;405;405;405;405	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	I	405	ENSP00000394423:T405I;ENSP00000323534:T405I;ENSP00000338200:T405I;ENSP00000350534:T405I;ENSP00000346839:T405I;ENSP00000352696:T405I;ENSP00000265312:T405I;ENSP00000273049:T405I;ENSP00000349509:T405I;ENSP00000410422:T405I;ENSP00000415018:T405I;ENSP00000399538:T405I;ENSP00000348285:T405I;ENSP00000398907:T405I	ENSP00000265313:T405I	T	-	2	0	FN1	215997116	0.995000	0.38212	0.985000	0.45067	0.985000	0.73830	2.437000	0.44828	2.836000	0.97738	0.655000	0.94253	ACT		0.488	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		133	543	0	0	0	1	0	133	543				
GABRA6	2559	broad.mit.edu	37	5	161115979	161115979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:161115979C>T	ENST00000274545.5	+	4	683	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000523217.1_Intron|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	84					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGTTTTTTTCCGCCAGACCTG	0.408										TCGA Ovarian(5;0.080)																												ENST00000274545.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(250-252)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						81.0	83.0	82.0					5																	161115979		2203	4299	6502	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161115979C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.250C>T	5.37:g.161115979C>T	ENSP00000274545:p.Arg84Cys	TCGA Ovarian(5;0.080)				RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Intron|GABRA6_ENST00000522269.1_3'UTR	p.R84C			Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	683	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	84					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.250C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915608	0.92178	.	.	ENSG00000145863	ENST00000274545;ENST00000517823	T;T	0.80566	-1.39;-1.39	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94213	0.7460	10	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	84	Q16445	GBRA6_HUMAN	C	84;31	ENSP00000274545:R84C;ENSP00000430212:R31C	ENSP00000274545:R84C	R	+	1	0	GABRA6	161048557	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.843000	0.69424	2.824000	0.97209	0.655000	0.94253	CGC		0.408	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			128	444	0	0	0	1	0	128	444				
ARHGEF17	9828	broad.mit.edu	37	11	73020596	73020596	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:73020596G>C	ENST00000263674.3	+	1	1263	c.913G>C	c.(913-915)Gac>Cac	p.D305H	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	305					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ATTGGATCAGGACTGCAGGCC	0.632																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(913-915)Gac>Cac		Rho guanine nucleotide exchange factor (GEF) 17							39.0	49.0	45.0					11																	73020596		2199	4291	6490	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020596G>C	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.913G>C	11.37:g.73020596G>C	ENSP00000263674:p.Asp305His						p.D305H	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1263	+			305					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.913G>C	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127584	0.20959	.	.	ENSG00000110237	ENST00000263674	T	0.59083	0.29	4.48	2.59	0.31030	.	0.431022	0.17191	N	0.183499	T	0.37812	0.1017	N	0.19112	0.55	0.09310	N	1	B	0.25169	0.119	B	0.26517	0.07	T	0.19679	-1.0298	10	0.29301	T	0.29	-5.789	6.67	0.23064	0.3027:0.0:0.6973:0.0	.	305	Q96PE2	ARHGH_HUMAN	H	305	ENSP00000263674:D305H	ENSP00000263674:D305H	D	+	1	0	ARHGEF17	72698244	0.179000	0.23135	0.263000	0.24496	0.767000	0.43475	2.280000	0.43443	0.353000	0.24079	0.313000	0.20887	GAC		0.632	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		136	318	0	0	0	1	0	136	318				
DPY19L1	23333	broad.mit.edu	37	7	35051041	35051041	+	Missense_Mutation	SNP	G	G	A	rs181181617		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:35051041G>A	ENST00000310974.4	-	5	496	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	118						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GTATAAATCCGGTACCAACTG	0.338																																						ENST00000310974.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(352-354)Cgg>Tgg		dpy-19-like 1 (C. elegans)							62.0	56.0	58.0					7																	35051041		1808	4071	5879	SO:0001583	missense	23333					integral to membrane		g.chr7:35051041G>A	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.352C>T	7.37:g.35051041G>A	ENSP00000308695:p.Arg118Trp						p.R118W	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			5	496	-			118					O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.352C>T	CCDS43567.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	19.60	3.858108	0.71834	.	.	ENSG00000173852	ENST00000310974	T	0.59906	0.23	5.39	-1.38	0.09027	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.86953	2.85	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.73084	-0.4094	10	0.72032	D	0.01	-13.9762	10.4745	0.44657	0.0641:0.0:0.3509:0.585	.	118	Q2PZI1	D19L1_HUMAN	W	118	ENSP00000308695:R118W	ENSP00000308695:R118W	R	-	1	2	DPY19L1	35017566	1.000000	0.71417	0.831000	0.32960	0.937000	0.57800	0.946000	0.29069	-0.646000	0.05452	-0.128000	0.14901	CGG		0.338	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			8	316	0	0	0	1	0	8	316				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		16	419	0	0	0	1	0	16	419				
MTMR3	8897	broad.mit.edu	37	22	30398961	30398961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:30398961G>A	ENST00000401950.2	+	9	992	c.650G>A	c.(649-651)cGc>cAc	p.R217H	MTMR3_ENST00000351488.3_Missense_Mutation_p.R217H|MTMR3_ENST00000323630.5_Missense_Mutation_p.R81H|MTMR3_ENST00000406629.1_Missense_Mutation_p.R217H|MTMR3_ENST00000333027.3_Missense_Mutation_p.R217H	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	217	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCCTGGAAGCGCATCCCTGCC	0.512																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(649-651)cGc>cAc		myotubularin related protein 3							93.0	83.0	86.0					22																	30398961		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30398961G>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.650G>A	22.37:g.30398961G>A	ENSP00000384651:p.Arg217His					MTMR3_ENST00000401950.2_Missense_Mutation_p.R217H|MTMR3_ENST00000351488.3_Missense_Mutation_p.R217H|MTMR3_ENST00000323630.5_Missense_Mutation_p.R81H|MTMR3_ENST00000406629.1_Missense_Mutation_p.R217H	p.R217H	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		9	978	+			217			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.650G>A	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494406	0.96339	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76	5.55	5.55	0.83447	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98871	1.0766	10	0.87932	D	0	.	18.5002	0.90878	0.0:0.0:1.0:0.0	.	217;217;217	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	H	217;217;81;217;217	ENSP00000384651:R217H;ENSP00000331649:R217H;ENSP00000318070:R81H;ENSP00000307271:R217H;ENSP00000384077:R217H	ENSP00000318070:R81H	R	+	2	0	MTMR3	28728961	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.397000	0.97276	2.624000	0.88883	0.467000	0.42956	CGC		0.512	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		6	315	0	0	0	1	0	6	315				
CYLD	1540	broad.mit.edu	37	16	50813757	50813757	+	Silent	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:50813757G>A	ENST00000427738.3	+	8	1525	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Silent_p.L437L|CYLD_ENST00000569418.1_Silent_p.L437L|CYLD_ENST00000311559.9_Silent_p.L440L|CYLD_ENST00000540145.1_Silent_p.L440L|CYLD_ENST00000564326.1_Silent_p.L437L|CYLD_ENST00000398568.2_Silent_p.L437L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	440	Interaction with TRAF2.|Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CACTTTCTCTGTCAGCCCAGT	0.507			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(1318-1320)ctG>ctA		cylindromatosis (turban tumor syndrome)							134.0	131.0	132.0					16																	50813757		1985	4173	6158	SO:0001819	synonymous_variant	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50813757G>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1320G>A	16.37:g.50813757G>A						CYLD_ENST00000564326.1_Silent_p.L437L|CYLD_ENST00000569418.1_Silent_p.L437L|CYLD_ENST00000398568.2_Silent_p.L437L|CYLD_ENST00000427738.3_Silent_p.L440L|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Silent_p.L437L|CYLD_ENST00000311559.9_Silent_p.L440L	p.L440L			Q9NQC7	CYLD_HUMAN			9	1735	+		all_cancers(37;0.0156)	440			Interaction with TRAF2.|Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Silent	SNP	ENST00000427738.3	37	c.1320G>A	CCDS45482.1																																																																																				0.507	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			82	490	0	0	0	1	0	82	490				
OR1C1	26188	broad.mit.edu	37	1	247920822	247920822	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:247920822T>C	ENST00000408896.2	-	1	1160	c.887A>G	c.(886-888)gAt>gGt	p.D296G		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	296					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CCTCTTCATATCCCTGTTCCT	0.428																																						ENST00000408896.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(886-888)gAt>gGt		olfactory receptor, family 1, subfamily C, member 1							146.0	135.0	138.0					1																	247920822		1917	4142	6059	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920822T>C	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.887A>G	1.37:g.247920822T>C	ENSP00000386138:p.Asp296Gly						p.D296G	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	1160	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	296					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.887A>G	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	T	9.331	1.060439	0.19987	.	.	ENSG00000221888	ENST00000408896	T	0.39592	1.07	3.22	0.691	0.18045	.	.	.	.	.	T	0.59500	0.2198	M	0.70903	2.155	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.49854	-0.8895	9	0.87932	D	0	.	9.657	0.39932	0.0:0.0:0.3383:0.6617	.	296	Q15619	OR1C1_HUMAN	G	296	ENSP00000386138:D296G	ENSP00000386138:D296G	D	-	2	0	OR1C1	245987445	0.376000	0.25098	0.048000	0.18961	0.024000	0.10985	2.018000	0.40991	0.017000	0.15025	-1.419000	0.01111	GAT		0.428	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			143	558	0	0	0	1	0	143	558				
MYH6	4624	broad.mit.edu	37	14	23869987	23869987	+	Silent	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:23869987G>C	ENST00000356287.3	-	12	1370	c.1341C>G	c.(1339-1341)acC>acG	p.T447T	MYH6_ENST00000405093.3_Silent_p.T447T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	447	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGTCTCCAGGGTGGCGTTGA	0.582																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(1339-1341)acC>acG		myosin, heavy chain 6, cardiac muscle, alpha							134.0	106.0	116.0					14																	23869987		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23869987G>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1341C>G	14.37:g.23869987G>C						MYH6_ENST00000356287.3_Silent_p.T447T	p.T447T	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	13	1411	-	all_cancers(95;2.54e-05)		447			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.1341C>G	CCDS9600.1																																																																																				0.582	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			55	355	0	0	0	1	0	55	355				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		15	975	0	0	0	1	0	15	975				
IL20RA	53832	broad.mit.edu	37	6	137323435	137323435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:137323435C>T	ENST00000316649.5	-	7	1157	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000541547.1_Missense_Mutation_p.V259M|IL20RA_ENST00000468393.1_5'Flank|IL20RA_ENST00000367748.1_Missense_Mutation_p.V197M	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	308					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AAGTTAATCACGATTTTTTCA	0.318																																						ENST00000367748.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(589-591)Gtg>Atg		interleukin 20 receptor, alpha							39.0	44.0	42.0					6																	137323435		2203	4296	6499	SO:0001583	missense	53832					integral to membrane	receptor activity	g.chr6:137323435C>T	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.922G>A	6.37:g.137323435C>T	ENSP00000314976:p.Val308Met					IL20RA_ENST00000541547.1_Missense_Mutation_p.V259M|IL20RA_ENST00000316649.5_Missense_Mutation_p.V308M	p.V197M			Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	6	1175	-	Colorectal(23;0.24)		308			Fibronectin type-III 2.		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	c.589G>A	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473496	0.26423	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.62364	0.29;1.74;0.03	5.79	-1.79	0.07932	.	0.528864	0.18758	N	0.131980	T	0.26122	0.0637	L	0.56769	1.78	0.09310	N	1	P;P	0.40230	0.708;0.669	B;B	0.28305	0.088;0.046	T	0.15292	-1.0442	10	0.46703	T	0.11	-2.8981	6.3867	0.21563	0.0:0.478:0.1229:0.3991	.	197;308	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	M	308;197;259	ENSP00000314976:V308M;ENSP00000356722:V197M;ENSP00000437843:V259M	ENSP00000314976:V308M	V	-	1	0	IL20RA	137365128	0.845000	0.29573	0.013000	0.15412	0.940000	0.58332	0.935000	0.28924	-0.331000	0.08501	-0.777000	0.03380	GTG		0.318	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		40	210	0	0	0	1	0	40	210				
CKM	1158	broad.mit.edu	37	19	45818781	45818781	+	Silent	SNP	C	C	T	rs376033705		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:45818781C>T	ENST00000221476.3	-	4	597	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	141	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GTGGGGGCAACGTGTAGCCCT	0.682																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(421-423)acG>acA		creatine kinase, muscle	Creatine(DB00148)	C		0,4406		0,0,2203	42.0	41.0	41.0		423	-6.6	0.9	19		41	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CKM	NM_001824.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		141/382	45818781	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45818781C>T	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.423G>A	19.37:g.45818781C>T							p.T141T	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	4	597	-		Ovarian(192;0.0336)|all_neural(266;0.112)	141			Phosphagen kinase C-terminal.		Q96QL9	Silent	SNP	ENST00000221476.3	37	c.423G>A	CCDS12659.1																																																																																				0.682	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			21	124	0	0	0	1	0	21	124				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		10	273	0	0	0	1	0	10	273				
ARHGAP31	57514	broad.mit.edu	37	3	119121128	119121128	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:119121128G>C	ENST00000264245.4	+	10	2061	c.1529G>C	c.(1528-1530)aGa>aCa	p.R510T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	510					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACGCCGTGCAGAACACCCCCG	0.592																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(1528-1530)aGa>aCa		Rho GTPase activating protein 31							47.0	53.0	51.0					3																	119121128		2047	4198	6245	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119121128G>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1529G>C	3.37:g.119121128G>C	ENSP00000264245:p.Arg510Thr						p.R510T	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			10	2061	+			510					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.1529G>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904142	0.92035	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.18657	2.2	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000002	T	0.45538	0.1347	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.16512	-1.0400	10	0.42905	T	0.14	.	18.1871	0.89796	0.0:0.0:1.0:0.0	.	510	Q2M1Z3	RHG31_HUMAN	T	510	ENSP00000264245:R510T	ENSP00000264245:R510T	R	+	2	0	ARHGAP31	120603818	1.000000	0.71417	0.874000	0.34290	0.996000	0.88848	9.263000	0.95617	2.774000	0.95407	0.655000	0.94253	AGA		0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			12	406	0	0	0	1	0	12	406				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	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>gAt		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>T	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>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	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>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	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		22	82	0	0	0	1	0	22	82				
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GTGGTTGCCACGGTAACTAAT	0.393																																						ENST00000400153.2																			0																																																			0							g.chr15:23205108C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205108C>T								NR_003521.1						0	746	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.393	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		4	79	0	0	0	1	0	4	79				
CTBP2	1488	broad.mit.edu	37	10	126715805	126715805	+	Intron	SNP	T	T	C	rs141864737	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:126715805T>C	ENST00000337195.5	-	3	458				CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.Q175R	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTGCCGCCCCTGAGGGATCAT	0.652																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(523-525)cAg>cGg		C-terminal binding protein 2							30.0	33.0	32.0					10																	126715805		2202	4300	6502	SO:0001627	intron_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126715805T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11760A>G	10.37:g.126715805T>C						CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron	p.Q175R	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	654	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	0					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.524A>G	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.182870	0.38511	.	.	ENSG00000175029	ENST00000309035	D	0.82711	-1.64	4.09	-8.18	0.01053	.	3.261290	0.00824	N	0.001618	T	0.75347	0.3837	.	.	.	0.09310	N	0.999992	B	0.23990	0.095	B	0.18871	0.023	T	0.63875	-0.6538	9	0.62326	D	0.03	.	13.6701	0.62420	0.1013:0.0:0.6613:0.2373	.	175	P56545-2	.	R	175	ENSP00000311825:Q175R	ENSP00000311825:Q175R	Q	-	2	0	CTBP2	126705795	0.017000	0.18338	0.000000	0.03702	0.935000	0.57460	0.349000	0.20055	-1.880000	0.01125	0.533000	0.62120	CAG		0.652	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		72	193	0	0	0	1	0	72	193				
KRT38	8687	broad.mit.edu	37	17	39596736	39596736	+	Silent	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:39596736G>A	ENST00000246646.3	-	1	437	c.438C>T	c.(436-438)acC>acT	p.T146T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	146	Linker 1.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CGGGGCACACGGTGGACTCGT	0.612																																						ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(436-438)acC>acT		keratin 38							122.0	103.0	109.0					17																	39596736		2203	4300	6503	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39596736G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.438C>T	17.37:g.39596736G>A							p.T146T	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			1	437	-		Breast(137;0.000496)	146			Linker 1.|Rod.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.438C>T	CCDS11392.1																																																																																				0.612	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		132	439	0	0	0	1	0	132	439				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			12	255	0	0	0	1	0	12	255				
POLA1	5422	broad.mit.edu	37	X	24839663	24839663	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:24839663T>C	ENST00000379059.3	+	31	3521	c.3506T>C	c.(3505-3507)gTg>gCg	p.V1169A	POLA1_ENST00000379068.3_Missense_Mutation_p.V1175A	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1169					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GGCAGAAAGGTGAAAGCTGGA	0.393																																						ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(3523-3525)gTg>gCg		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						92.0	77.0	82.0					X																	24839663		2203	4300	6503	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24839663T>C		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3506T>C	X.37:g.24839663T>C	ENSP00000368349:p.Val1169Ala					POLA1_ENST00000379059.3_Missense_Mutation_p.V1169A	p.V1175A			P09884	DPOLA_HUMAN			31	3567	+			1169					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.3524T>C	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184335	0.57800	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.17528	2.27;2.27	4.9	4.9	0.64082	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.246861	0.40302	N	0.001126	T	0.26268	0.0641	M	0.69823	2.125	0.58432	D	0.999998	P	0.37207	0.587	B	0.43754	0.43	T	0.03240	-1.1057	10	0.21540	T	0.41	-0.1434	13.7335	0.62804	0.0:0.0:0.0:1.0	.	1169	P09884	DPOLA_HUMAN	A	1175;1169	ENSP00000368358:V1175A;ENSP00000368349:V1169A	ENSP00000368349:V1169A	V	+	2	0	POLA1	24749584	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	7.463000	0.80869	1.816000	0.52996	0.441000	0.28932	GTG		0.393	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		81	80	0	0	0	1	0	81	80				
TRIM42	287015	broad.mit.edu	37	3	140397360	140397360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:140397360C>T	ENST00000286349.3	+	1	480	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	97						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCTGCTGCCGCAATACCAT	0.542																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(289-291)Cgc>Tgc		tripartite motif containing 42							45.0	41.0	42.0					3																	140397360		2194	4272	6466	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397360C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.289C>T	3.37:g.140397360C>T	ENSP00000286349:p.Arg97Cys						p.R97C	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			1	480	+			97					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.289C>T	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768237	0.49680	.	.	ENSG00000155890	ENST00000286349	T	0.18810	2.19	5.15	2.12	0.27331	.	0.000000	0.48767	D	0.000162	T	0.16981	0.0408	N	0.14661	0.345	0.42892	D	0.994201	D	0.76494	0.999	P	0.54924	0.764	T	0.04053	-1.0981	10	0.66056	D	0.02	-23.7362	5.0235	0.14372	0.3777:0.5241:0.0:0.0982	.	97	Q8IWZ5	TRI42_HUMAN	C	97	ENSP00000286349:R97C	ENSP00000286349:R97C	R	+	1	0	TRIM42	141880050	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	1.466000	0.35310	1.262000	0.44165	0.655000	0.94253	CGC		0.542	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		63	244	0	0	0	1	0	63	244				
GTF3C1	2975	broad.mit.edu	37	16	27544625	27544625	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:27544625A>C	ENST00000356183.4	-	5	851	c.836T>G	c.(835-837)cTg>cGg	p.L279R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L279R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	279					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTCTTCCCTCAGCTTTCCCAG	0.552																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(835-837)cTg>cGg		general transcription factor IIIC, polypeptide 1, alpha 220kDa							125.0	110.0	115.0					16																	27544625		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27544625A>C	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.836T>G	16.37:g.27544625A>C	ENSP00000348510:p.Leu279Arg					GTF3C1_ENST00000561623.1_Missense_Mutation_p.L279R	p.L279R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			5	851	-			279					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.836T>G	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454282	0.84209	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.28069	1.63	5.96	5.96	0.96718	.	0.082944	0.49305	D	0.000153	T	0.45296	0.1335	L	0.29908	0.895	0.48632	D	0.999681	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.981	T	0.43956	-0.9359	10	0.87932	D	0	-3.0653	16.1077	0.81236	1.0:0.0:0.0:0.0	.	279;279	Q12789;Q12789-3	TF3C1_HUMAN;.	R	279;277	ENSP00000348510:L279R	ENSP00000348510:L279R	L	-	2	0	GTF3C1	27452126	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.664000	0.83830	2.285000	0.76669	0.528000	0.53228	CTG		0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		91	245	0	0	0	1	0	91	245				
PHACTR3	116154	broad.mit.edu	37	20	58342409	58342409	+	Missense_Mutation	SNP	C	C	T	rs139799389	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:58342409C>T	ENST00000371015.1	+	5	1177	c.710C>T	c.(709-711)cCg>cTg	p.P237L	PHACTR3_ENST00000541461.1_Missense_Mutation_p.P196L|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P196L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P196L|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P234L|PHACTR3_ENST00000395639.4_Intron	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	237	Pro-rich.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTGCCCACTCCGCCACCCAAG	0.587													C|||	4	0.000798722	0.0015	0.0014	5008	,	,		18475	0.0		0.0	False		,,,				2504	0.001					ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(709-711)cCg>cTg		phosphatase and actin regulator 3		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,	1,4403		0,1,2201	31.0	29.0	30.0		701,587,710,587,	4.7	0.8	20	dbSNP_134	30	16,8584		0,16,4284	yes	missense,missense,missense,missense,intron	PHACTR3	NM_001199505.1,NM_001199506.1,NM_080672.3,NM_183244.1,NM_183246.1	98,98,98,98,	0,17,6485	TT,TC,CC		0.186,0.0227,0.1307	probably-damaging,probably-damaging,probably-damaging,probably-damaging,	234/557,196/519,237/560,196/519,	58342409	17,12987	2202	4300	6502	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58342409C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.710C>T	20.37:g.58342409C>T	ENSP00000360054:p.Pro237Leu					PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P196L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P196L|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P234L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P196L	p.P237L	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		5	1177	+	all_lung(29;0.00344)		237			Pro-rich.		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.710C>T	CCDS13480.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.73	2.621533	0.46736	2.27E-4	0.00186	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000541461;ENST00000355648;ENST00000395636	T;T;T;T;T	0.23147	1.92;1.93;1.93;1.93;1.93	4.7	4.7	0.59300	.	0.109577	0.64402	D	0.000006	T	0.24774	0.0601	M	0.63428	1.95	0.80722	D	1	P;B	0.38300	0.626;0.42	B;B	0.25506	0.059;0.061	T	0.11792	-1.0573	10	0.42905	T	0.14	-17.6812	16.6343	0.85042	0.0:1.0:0.0:0.0	.	237;234	Q96KR7;B1AKX0	PHAR3_HUMAN;.	L	234;237;196;196;196	ENSP00000353002:P234L;ENSP00000360054:P237L;ENSP00000442483:P196L;ENSP00000347866:P196L;ENSP00000378998:P196L	ENSP00000347866:P196L	P	+	2	0	PHACTR3	57775804	0.986000	0.35501	0.836000	0.33094	0.972000	0.66771	3.474000	0.53129	2.166000	0.68216	0.460000	0.39030	CCG		0.587	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		55	201	0	0	0	1	0	55	201				
ANK3	288	broad.mit.edu	37	10	61833923	61833923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:61833923C>T	ENST00000280772.2	-	37	6907	c.6716G>A	c.(6715-6717)cGt>cAt	p.R2239H	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2239					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						TTCTTTAACACGCATGCCTTT	0.413																																						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.(6715-6717)cGt>cAt		ankyrin 3, node of Ranvier (ankyrin G)							210.0	196.0	201.0					10																	61833923		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61833923C>T	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.6716G>A	10.37:g.61833923C>T	ENSP00000280772:p.Arg2239His					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.R2239H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	6907	-			2239					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.6716G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804751	0.70682	.	.	ENSG00000151150	ENST00000280772	T	0.67523	-0.27	6.05	6.05	0.98169	.	0.000000	0.42420	D	0.000701	T	0.64000	0.2559	L	0.56769	1.78	0.80722	D	1	P	0.52577	0.954	B	0.36666	0.23	T	0.69262	-0.5191	10	0.54805	T	0.06	.	20.6032	0.99464	0.0:1.0:0.0:0.0	.	2239	Q12955	ANK3_HUMAN	H	2239	ENSP00000280772:R2239H	ENSP00000280772:R2239H	R	-	2	0	ANK3	61503929	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.811000	0.86092	2.875000	0.98604	0.643000	0.83706	CGT		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		19	649	0	0	0	1	0	19	649				
FRG1	2483	broad.mit.edu	37	4	190878627	190878627	+	Silent	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:190878627T>C	ENST00000226798.4	+	6	729	c.507T>C	c.(505-507)agT>agC	p.S169S	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	169					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAGCAAAAAGTAAAACAGCAG	0.358																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(505-507)agT>agC		FSHD region gene 1							49.0	46.0	47.0					4																	190878627		2184	4282	6466	SO:0001819	synonymous_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878627T>C	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.507T>C	4.37:g.190878627T>C						FRG1_ENST00000514482.1_3'UTR	p.S169S	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	729	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	169					A8K775	Silent	SNP	ENST00000226798.4	37	c.507T>C	CCDS34121.1																																																																																				0.358	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		19	352	0	0	0	1	0	19	352				
TP53	7157	broad.mit.edu	37	17	7577517	7577517	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:7577517A>G	ENST00000269305.4	-	7	953	c.764T>C	c.(763-765)aTc>aCc	p.I255T	TP53_ENST00000420246.2_Missense_Mutation_p.I255T|TP53_ENST00000455263.2_Missense_Mutation_p.I255T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.I255T|TP53_ENST00000359597.4_Missense_Mutation_p.I255T|TP53_ENST00000445888.2_Missense_Mutation_p.I255T	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	255	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I255S(10)|p.0?(8)|p.I255T(7)|p.I255del(7)|p.I255N(7)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(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)	TTCCAGTGTGATGATGGTGAG	0.582		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"""		44	Substitution - Missense(24)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(2)|Unknown(1)	p.I255S(10)|p.0?(8)|p.I255T(7)|p.I255del(7)|p.I255N(7)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)	breast(10)|pancreas(6)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|lung(2)|thyroid(1)|stomach(1)|liver(1)|endometrium(1)|skin(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.(763-765)aTc>aCc	Other conserved DNA damage response genes	tumor protein p53							145.0	104.0	118.0					17																	7577517		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577517A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.764T>C	17.37:g.7577517A>G	ENSP00000269305:p.Ile255Thr	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_Missense_Mutation_p.I255T|TP53_ENST00000269305.4_Missense_Mutation_p.I255T|TP53_ENST00000455263.2_Missense_Mutation_p.I255T|TP53_ENST00000445888.2_Missense_Mutation_p.I255T|TP53_ENST00000413465.2_Missense_Mutation_p.I255T	p.I255T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	896	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	255		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.764T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.136463	0.56936	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99812	-6.88;-6.88;-6.88;-6.88;-6.88;-6.88;-6.88	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058771	0.64402	D	0.000004	D	0.99704	0.9887	M	0.82630	2.6	0.58432	D	0.999994	D;D;D;D;D	0.89917	0.999;0.981;0.998;0.999;1.0	D;P;D;D;D	0.87578	0.995;0.901;0.992;0.998;0.997	D	0.97329	0.9949	10	0.87932	D	0	-21.9257	12.3101	0.54924	1.0:0.0:0.0:0.0	.	255;255;255;255;255	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	T	255;255;255;255;255;255;244;123	ENSP00000410739:I255T;ENSP00000352610:I255T;ENSP00000269305:I255T;ENSP00000398846:I255T;ENSP00000391127:I255T;ENSP00000391478:I255T;ENSP00000425104:I123T	ENSP00000269305:I255T	I	-	2	0	TP53	7518242	1.000000	0.71417	0.998000	0.56505	0.393000	0.30537	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		59	161	0	0	0	1	0	59	161				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		21	473	0	0	0	1	0	21	473				
TMEM200C	645369	broad.mit.edu	37	18	5892008	5892008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:5892008G>A	ENST00000581347.2	-	3	700	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R19C|RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	19						integral component of membrane (GO:0016021)		p.R19S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTTGGGGGGCGGAGTGGATCC	0.607																																						ENST00000581347.1																			1	Substitution - Missense(1)	p.R19S(1)	stomach(1)	autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(55-57)Cgc>Tgc		transmembrane protein 200C							62.0	66.0	65.0					18																	5892008		2058	4208	6266	SO:0001583	missense	645369					integral to membrane		g.chr18:5892008G>A		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.55C>T	18.37:g.5892008G>A	ENSP00000463375:p.Arg19Cys					TMEM200C_ENST00000383490.2_Missense_Mutation_p.R19C|RP11-945C19.4_ENST00000577694.1_RNA	p.R19C			A6NKL6	T200C_HUMAN			3	700	-			19						Missense_Mutation	SNP	ENST00000581347.2	37	c.55C>T	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361603	0.61403	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.3	4.3	0.51218	.	0.061497	0.64402	D	0.000004	T	0.74854	0.3771	M	0.65498	2.005	0.49130	D	0.99975	D	0.89917	1.0	D	0.70935	0.971	T	0.77629	-0.2516	9	0.87932	D	0	-9.4438	12.267	0.54684	0.0:0.0:0.6997:0.3003	.	19	A6NKL6	T200C_HUMAN	C	19	.	ENSP00000372982:R19C	R	-	1	0	TMEM200C	5882008	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.903000	0.48711	2.376000	0.81061	0.557000	0.71058	CGC		0.607	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		18	126	0	0	0	1	0	18	126				
MATN4	8785	broad.mit.edu	37	20	43933094	43933094	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:43933094C>T	ENST00000372754.1	-	2	425	c.417G>A	c.(415-417)ccG>ccA	p.P139P	MATN4_ENST00000342716.4_Silent_p.P139P|MATN4_ENST00000537548.1_Silent_p.P139P|MATN4_ENST00000360607.6_Silent_p.P139P|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Silent_p.P139P|MATN4_ENST00000353917.5_Silent_p.P139P|RBPJL_ENST00000343694.3_5'Flank|RBPJL_ENST00000372741.3_5'Flank|RBPJL_ENST00000372743.1_5'Flank			O95460	MATN4_HUMAN	matrilin 4	139	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CAGCGACACGCGGCACGCGCT	0.701																																						ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(415-417)ccG>ccA		matrilin 4							8.0	8.0	8.0					20																	43933094		2125	4135	6260	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43933094C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.417G>A	20.37:g.43933094C>T						MATN4_ENST00000372756.1_Silent_p.P139P|MATN4_ENST00000353917.5_Silent_p.P139P|MATN4_ENST00000342716.4_Silent_p.P139P|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000360607.5_Silent_p.P139P|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372754.1_Silent_p.P139P	p.P139P			O95460	MATN4_HUMAN			4	661	-		Myeloproliferative disorder(115;0.0122)	139			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.417G>A																																																																																					0.701	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			32	65	0	0	0	1	0	32	65				
KLHL28	54813	broad.mit.edu	37	14	45398354	45398354	+	Silent	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:45398354G>A	ENST00000396128.4	-	5	1712	c.1593C>T	c.(1591-1593)gtC>gtT	p.V531V	KLHL28_ENST00000355081.2_Silent_p.V545V	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	531										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGTGACCACCGACGACATAAA	0.423																																						ENST00000396128.4																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1591-1593)gtC>gtT		kelch-like family member 28							139.0	118.0	125.0					14																	45398354		2203	4300	6503	SO:0001819	synonymous_variant	54813							g.chr14:45398354G>A	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1593C>T	14.37:g.45398354G>A						KLHL28_ENST00000355081.2_Silent_p.V545V	p.V531V	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN			5	1712	-			531					Q0VAL5	Silent	SNP	ENST00000396128.4	37	c.1593C>T	CCDS9680.1																																																																																				0.423	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			87	516	0	0	0	1	0	87	516				
PXT1	222659	broad.mit.edu	37	6	36368236	36368236	+	Nonsense_Mutation	SNP	G	G	A	rs183075818		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:36368236G>A	ENST00000454782.2	-	4	778	c.295C>T	c.(295-297)Cga>Tga	p.R99*		NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	99					positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|peroxisome (GO:0005777)											CTCACCTCTCGAACCATCCTA	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19453	0.0		0.0	False		,,,				2504	0.0					ENST00000454782.2																			0											c.(295-297)Cga>Tga		peroxisomal, testis specific 1							237.0	191.0	207.0					6																	36368236		2203	4300	6503	SO:0001587	stop_gained	222659					peroxisome		g.chr6:36368236G>A	AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165			18312	protein-coding gene	gene with protein product							Standard	NM_152990		Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.295C>T	6.37:g.36368236G>A	ENSP00000419944:p.Arg99*						p.R99*	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN			4	778	-			16					J3KR74	Nonsense_Mutation	SNP	ENST00000454782.2	37	c.295C>T	CCDS4820.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	39	7.886637	0.98542	.	.	ENSG00000179165	ENST00000454782;ENST00000538109	.	.	.	4.9	4.01	0.46588	.	0.919982	0.08824	N	0.888375	.	.	.	.	.	.	0.49915	D	0.999834	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0883	10.898	0.47034	0.0:0.1901:0.8099:0.0	.	.	.	.	X	99;16	.	ENSP00000419944:R99X	R	-	1	2	PXT1	36476214	0.069000	0.21087	0.259000	0.24435	0.603000	0.37013	1.193000	0.32162	1.250000	0.43966	0.555000	0.69702	CGA		0.493	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357516.2	NM_152990		73	352	0	0	0	1	0	73	352				
TMEM30A	55754	broad.mit.edu	37	6	75965841	75965841	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:75965841T>C	ENST00000230461.6	-	7	1392	c.1063A>G	c.(1063-1065)Aat>Gat	p.N355D	TMEM30A_ENST00000475111.2_Missense_Mutation_p.N319D|TMEM30A_ENST00000370050.5_Missense_Mutation_p.N236D	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	355					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAGCTGTATTACTACTGTTT	0.358																																						ENST00000230461.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1063-1065)Aat>Gat		transmembrane protein 30A							68.0	69.0	69.0					6																	75965841		2203	4299	6502	SO:0001583	missense	55754					integral to membrane		g.chr6:75965841T>C	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.1063A>G	6.37:g.75965841T>C	ENSP00000230461:p.Asn355Asp					TMEM30A_ENST00000475111.2_Missense_Mutation_p.N319D|TMEM30A_ENST00000370050.5_Missense_Mutation_p.N236D	p.N355D	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN			7	1392	-			355					A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	c.1063A>G	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.523412	0.64747	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.77	5.77	0.91146	.	0.082960	0.85682	D	0.000000	T	0.34135	0.0887	L	0.45228	1.405	0.50171	D	0.999851	B;B	0.09022	0.002;0.002	B;B	0.17433	0.006;0.018	T	0.36578	-0.9742	9	0.05525	T	0.97	.	16.0847	0.81038	0.0:0.0:0.0:1.0	.	319;355	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	D	355;339;236;319	.	ENSP00000230461:N355D	N	-	1	0	TMEM30A	76022561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.202000	0.70862	0.528000	0.53228	AAT		0.358	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		30	165	0	0	0	1	0	30	165				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262103	39262103	+	Missense_Mutation	SNP	A	A	T	rs374629799	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:39262103A>T	ENST00000391415.1	+	1	520	c.463A>T	c.(463-465)Agc>Tgc	p.S155C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	155	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccccagctgcagcatctccag	0.672													a|||	152	0.0303514	0.0893	0.0216	5008	,	,		18051	0.001		0.0139	False		,,,				2504	0.0041					ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(463-465)Agc>Tgc		keratin associated protein 4-9							6.0	9.0	8.0					17																	39262103		679	1572	2251	SO:0001583	missense	100132386					keratin filament		g.chr17:39262103A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.463A>T	17.37:g.39262103A>T	ENSP00000375234:p.Ser155Cys						p.S155C	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	520	+			155			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.463A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	0.091	-1.167638	0.01660	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00584	6.4	3.1	-1.38	0.09027	.	.	.	.	.	T	0.00109	0.0003	N	0.00041	-2.485	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48186	-0.9057	9	0.02654	T	1	.	0.2915	0.00259	0.1968:0.2502:0.1975:0.3554	.	155	Q9BYQ8	KRA49_HUMAN	C	143;155;146	ENSP00000375234:S155C	ENSP00000334461:S146C	S	+	1	0	KRTAP4-9	36515629	0.946000	0.32159	0.002000	0.10522	0.205000	0.24178	1.056000	0.30480	-0.110000	0.12022	-1.044000	0.02363	AGC		0.672	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		6	97	0	0	0	1	0	6	97				
MYH14	79784	broad.mit.edu	37	19	50812427	50812427	+	Missense_Mutation	SNP	C	C	T	rs369147236		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:50812427C>T	ENST00000596571.1	+	39	5830	c.5830C>T	c.(5830-5832)Cgg>Tgg	p.R1944W	MYH14_ENST00000440075.2_Missense_Mutation_p.R1985W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1985W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1985W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1977W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1952W|CTB-191K22.5_ENST00000595563.1_RNA|MYH14_ENST00000425460.1_Missense_Mutation_p.R1952W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1944					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACTGAGGAACCGGCTTCGGTA	0.642																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(5953-5955)Cgg>Tgg		myosin, heavy chain 14, non-muscle		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4210		0,0,2105	97.0	97.0	97.0		5854,5953,5830	1.4	1.0	19		97	1,8473		0,1,4236	no	missense,missense,missense	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	101,101,101	0,1,6341	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging	1952/2004,1985/2037,1944/1996	50812427	1,12683	2105	4237	6342	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50812427C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5830C>T	19.37:g.50812427C>T	ENSP00000472819:p.Arg1944Trp					MYH14_ENST00000601313.1_Missense_Mutation_p.R1985W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1952W|MYH14_ENST00000596571.1_Missense_Mutation_p.R1944W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1952W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1977W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1985W	p.R1985W			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	42	6000	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1944					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.5953C>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854163	0.51270	0.0	1.18E-4	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	3.69	1.35	0.21983	Myosin tail (1);	.	.	.	.	D	0.83482	0.5264	L	0.58510	1.815	0.30649	N	0.755608	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.968;0.987;0.978	T	0.78743	-0.2085	9	0.87932	D	0	.	9.3434	0.38093	0.5854:0.4146:0.0:0.0	.	1985;1944;1952	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	W	1985;1977;1952;1728;1985	ENSP00000406273:R1985W;ENSP00000366169:R1977W;ENSP00000407879:R1952W;ENSP00000262269:R1985W	ENSP00000262269:R1985W	R	+	1	2	MYH14	55504239	0.000000	0.05858	1.000000	0.80357	0.770000	0.43624	-0.299000	0.08254	0.293000	0.22520	0.313000	0.20887	CGG		0.642	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		48	319	0	0	0	1	0	48	319				
GLRX3	10539	broad.mit.edu	37	10	131959074	131959074	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:131959074C>T	ENST00000368644.1	+	4	313	c.291C>T	c.(289-291)atC>atT	p.I97I	GLRX3_ENST00000331244.5_Silent_p.I97I	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	97	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CTCAGAAAATCGACCGATTAG	0.378																																						ENST00000368644.1																			0				endometrium(1)|large_intestine(5)|lung(7)	13						c.(289-291)atC>atT		glutaredoxin 3							80.0	75.0	77.0					10																	131959074		2203	4300	6503	SO:0001819	synonymous_variant	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131959074C>T	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.291C>T	10.37:g.131959074C>T						GLRX3_ENST00000331244.5_Silent_p.I97I	p.I97I	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	4	313	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	97			Thioredoxin.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Silent	SNP	ENST00000368644.1	37	c.291C>T	CCDS7661.1																																																																																				0.378	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		101	200	0	0	0	1	0	101	200				
PHF13	148479	broad.mit.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(346-351)ctg>ct		PHD finger protein 13				54,4212		2,50,2081						5.5	1.0			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680069_6680071delGAA	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del					PHF13_ENST00000495385.1_Intron	p.LK116del	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	730_732	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	116					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	ENST00000377648.4	37	c.348_350delGAA	CCDS85.1																																																																																				0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		7	321						7	321	---	---	---	---
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	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_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs	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_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs	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		8	202						8	202	---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7811329	7811329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:7811329delA	ENST00000303635.7	+	20	4967	c.4760delA	c.(4759-4761)caafs	p.Q1587fs	CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs|CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1587	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1589fs*33(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TACTATGAACAAAAAAAATTC	0.473			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		1	Deletion - Frameshift(1)	p.K1589fs*33(1)	lung(1)	breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(4759-4761)cafs		calmodulin binding transcription activator 1							143.0	160.0	154.0					1																	7811329		2203	4300	6503	SO:0001589	frameshift_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7811329delA	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4760delA	1.37:g.7811329delA	ENSP00000306522:p.Gln1587fs					CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs|CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs	p.Q1587fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	20	4967	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1587			IQ 2.		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Frame_Shift_Del	DEL	ENST00000303635.7	37	c.4760delA	CCDS30576.1																																																																																				0.473	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		9	1459						9	1459	---	---	---	---
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del	VAMP3_ENST00000470357.1_In_Frame_Del_p.I66del|RP3-467L1.6_ENST00000602406.1_RNA	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(265-270)ttc>t		vesicle-associated membrane protein 3																																				SO:0001651	inframe_deletion	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7838212_7838214delTCA	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.266_268delTCA	1.37:g.7838221_7838223delTCA	ENSP00000054666:p.Ile94del					VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	p.FI89del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	381_383	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	89					Q9BRV4	In_Frame_Del	DEL	ENST00000054666.6	37	c.266_268delTCA	CCDS88.1																																																																																				0.365	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		9	1012						9	1012	---	---	---	---
PRAMEF27	101929983	broad.mit.edu	37	1	13052821	13052821	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:13052821delT	ENST00000436041.1	-	1	177	c.178delA	c.(178-180)aggfs	p.R60fs	PRAMEF6_ENST00000376192.5_Intron																lung(3)	3						TTGGGGTGCCTTAAGTCCCTC	0.493																																						ENST00000436041.1																			0				lung(3)	3						c.(178-180)ggfs																																						SO:0001589	frameshift_variant	0							g.chr1:13052821delT																												ENST00000436041.1:c.178delA	1.37:g.13052821delT	ENSP00000393136:p.Arg60fs					PRAMEF6_ENST00000376192.5_Intron	p.R60fs							1	177	-									Frame_Shift_Del	DEL	ENST00000436041.1	37	c.178delA																																																																																					0.493	WI2-3308P17.2-001	PUTATIVE	not_best_in_genome_evidence|mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000158512.1			7	1574						7	1574	---	---	---	---
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		9	381						9	381	---	---	---	---
CNKSR1	10256	broad.mit.edu	37	1	26514778	26514778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:26514778delC	ENST00000374253.5	+	17	1568	c.1529delC	c.(1528-1530)gccfs	p.A510fs	CNKSR1_ENST00000361530.6_Frame_Shift_Del_p.A503fs|CNKSR1_ENST00000531191.1_Frame_Shift_Del_p.A245fs|CATSPER4_ENST00000456354.2_5'Flank	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	510					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGCCGGGCCCCCCCACCC	0.607																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(733-735)gcfs		connector enhancer of kinase suppressor of Ras 1							62.0	64.0	64.0					1																	26514778		2203	4300	6503	SO:0001589	frameshift_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26514778delC	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1529delC	1.37:g.26514778delC	ENSP00000363371:p.Ala510fs					CNKSR1_ENST00000361530.6_Frame_Shift_Del_p.A503fs|CNKSR1_ENST00000374253.5_Frame_Shift_Del_p.A510fs	p.A245fs			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	16	1741	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	510			PDZ.		B1AMW9|O95381	Frame_Shift_Del	DEL	ENST00000374253.5	37	c.734delC																																																																																					0.607	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		7	279						7	279	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46494559	46494559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:46494559delT	ENST00000361297.2	+	18	2455	c.2172delT	c.(2170-2172)cctfs	p.P724fs	MAST2_ENST00000372009.2_Frame_Shift_Del_p.P654fs	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCTGCGTCCCTTTTTTTGGAG	0.552																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(2170-2172)ccfs		microtubule associated serine/threonine kinase 2							200.0	200.0	200.0					1																	46494559		1992	4175	6167	SO:0001589	frameshift_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46494559delT	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2172delT	1.37:g.46494559delT	ENSP00000354671:p.Pro724fs					MAST2_ENST00000372008.1_Frame_Shift_Del_p.P609fs|MAST2_ENST00000372009.2_Frame_Shift_Del_p.P654fs	p.P724fs	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			18	2455	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		724			Protein kinase.			Frame_Shift_Del	DEL	ENST00000361297.2	37	c.2172delT	CCDS41326.1																																																																																				0.552	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		9	1216						9	1216	---	---	---	---
LOC101927648	101927648	broad.mit.edu	37	1	143375293	143375293	+	lincRNA	DEL	T	T	-	rs143007968|rs148555588|rs6604366		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:143375293delT	ENST00000428624.1	+	0	0				RP11-435B5.3_ENST00000430699.1_lincRNA|RP11-435B5.4_ENST00000423249.1_lincRNA																							CCTATAGCAGttttttttttt	0.368																																						ENST00000431621.1																			0																																																			0							g.chr1:143375293delT																													1.37:g.143375293delT						RP11-435B5.4_ENST00000423249.1_lincRNA								0	523	+									RNA	DEL	ENST00000428624.1	37																																																																																						0.368	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			9	109						9	109	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(187-192)cga>c		hemochromatosis type 2 (juvenile)			,,,	49,31,4178		2,0,45,10,11,2061					,,,	2.7	0.0			51	5,73,8160		0,0,5,23,27,4064	no	codingComplex,intron,intron,utr-5	HFE2	NM_213653.3,NM_213652.3,NM_202004.3,NM_145277.4	,,,	2,0,50,33,38,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9468,1.8788,1.2644	,,,	,,,		54,104,12338				SO:0001651	inframe_deletion	148738				axon guidance	anchored to membrane		g.chr1:145415369_145415371delGAG	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.188_190delGAG	1.37:g.145415378_145415380delGAG	ENSP00000337014:p.Gly69del					HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron	p.RG63del	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	426_428	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		63					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	In_Frame_Del	DEL	ENST00000336751.5	37	c.188_190delGAG	CCDS910.1																																																																																				0.626	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		12	436						12	436	---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:150530506delG	ENST00000369038.2	+	12	2464	c.2263delG	c.(2263-2265)gggfs	p.G758fs	ADAMTSL4_ENST00000271643.4_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2263-2265)ggfs		ADAMTS-like 4							41.0	49.0	46.0					1																	150530506		2147	4195	6342	SO:0001589	frameshift_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530506delG	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2263delG	1.37:g.150530506delG	ENSP00000358034:p.Gly758fs					ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs	p.G758fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		14	2499	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		758			TSP type-1 2.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Frame_Shift_Del	DEL	ENST00000369038.2	37	c.2263delG	CCDS955.1																																																																																				0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		9	864						9	864	---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	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		7	1244						7	1244	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152086556	152086556	+	Start_Codon_Del	DEL	T	T	-	rs141946179	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:152086556delT	ENST00000368804.1	-	0	0					NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin						keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGGAGACATTTTTTTTTCT	0.358													?|TTTTTTTTT|TTTTTTTT|unsure	7	0.00139776	0.0	0.0014	5008	,	,		21406	0.002		0.003	False		,,,				2504	0.001					ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105								trichohyalin				8,3530		0,8,1761	75.0	67.0	69.0			5.1	1.0	1	dbSNP_134	70	30,7792		1,28,3882	no	frameshift	TCHH	NM_007113.2		1,36,5643	A1A1,A1R,RR		0.3835,0.2261,0.3345			152086556	38,11322	1838	4082	5920	SO:0001582	initiator_codon_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152086556delT	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066		1.37:g.152086556delT								NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	0	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)							Q5VUI3	Translation_Start_Site	DEL	ENST00000368804.1	37		CCDS41396.1																																																																																				0.358	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	301						7	301	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154067525	154067526	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:154067525_154067526insA	ENST00000368559.3	-	15	2143_2144	c.2072_2073insT	c.(2071-2073)ttgfs	p.L691fs	NUP210L_ENST00000271854.3_Frame_Shift_Ins_p.L691fs	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	691					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATTCAATTCCAAAAAAAATCG	0.475																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2071-2073)tgafs		nucleoporin 210kDa-like																																				SO:0001589	frameshift_variant	91181					integral to membrane		g.chr1:154067525_154067526insA	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2073dupT	1.37:g.154067533_154067533dupA	ENSP00000357547:p.Leu691fs					NUP210L_ENST00000271854.3_Frame_Shift_Ins_p.*691fs	p.*691fs	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2143_2144	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		691					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Frame_Shift_Ins	INS	ENST00000368559.3	37	c.2072_2073insT	CCDS41399.1																																																																																				0.475	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		9	282						9	282	---	---	---	---
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:156761535_156761536insC	ENST00000271526.4	+	4	1402_1403	c.1130_1131insC	c.(1129-1134)gtccccfs	p.VP377fs	PRCC_ENST00000353233.3_Intron|PRCC_ENST00000491853.1_3'UTR	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)					CCGGCCCTGGTCCCCCCCCAGG	0.53			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)gccfs		papillary renal cell carcinoma (translocation-associated)				24,4242		0,24,2109						4.4	0.9			74	14,8240		0,14,4113	no	frameshift	PRCC	NM_005973.4		0,38,6222	A1A1,A1R,RR		0.1696,0.5626,0.3035				38,12482				SO:0001589	frameshift_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156761535_156761536insC	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.1138dupC	1.37:g.156761543_156761543dupC	ENSP00000271526:p.Val377fs					PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	p.A377fs	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			4	1402_1403	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		377					A8K1F7|O00665|O00724|Q5SZ06	Frame_Shift_Ins	INS	ENST00000271526.4	37	c.1130_1131insC	CCDS1157.1																																																																																				0.530	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		8	525						8	525	---	---	---	---
CD1D	912	broad.mit.edu	37	1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:158151257delT	ENST00000368171.3	+	3	573	c.74delT	c.(73-75)cttfs	p.L25fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(73-75)ctfs		CD1d molecule							202.0	226.0	218.0					1																	158151257		2203	4300	6503	SO:0001589	frameshift_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151257delT	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.74delT	1.37:g.158151257delT	ENSP00000357153:p.Leu25fs						p.L25fs	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			3	573	+	all_hematologic(112;0.0378)		25					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Frame_Shift_Del	DEL	ENST00000368171.3	37	c.74delT	CCDS1173.1																																																																																				0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		7	2729						7	2729	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161059028	161059030	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:161059028_161059030delAGC	ENST00000368012.3	-	1	359_361	c.57_59delGCT	c.(55-60)ctgcta>cta	p.19_20LL>L	RP11-544M22.8_ENST00000447167.1_RNA	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	19					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCCAGCAGTAGCAGCAGCAGCA	0.567																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(55-60)cta>ct		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161059028_161059030delAGC	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.57_59delGCT	1.37:g.161059037_161059039delAGC	ENSP00000356991:p.Leu22del						p.LL21del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		1	359_361	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		21					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.57_59delGCT	CCDS1216.1																																																																																				0.567	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		8	755						8	755	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	LMX1A_ENST00000294816.2_In_Frame_Del_p.261_262QQ>Q|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_In_Frame_Del_p.261_262QQ>Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(781-786)caa>ca		LIM homeobox transcription factor 1, alpha																																				SO:0001651	inframe_deletion	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177332_165177334delTGC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.783_785delGCA	1.37:g.165177341_165177343delTGC	ENSP00000340226:p.Gln262del					LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del	p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			7	1165_1167	-	all_hematologic(923;0.248)		261			Gln-rich.|Poly-Gln.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	In_Frame_Del	DEL	ENST00000342310.3	37	c.783_785delGCA	CCDS1247.1																																																																																				0.567	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		7	237						7	237	---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gttfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCTGTGTTGGTTTTTTTGCCT	0.378																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(1963-1965)gtfs		DEAH (Asp-Glu-Ala-His) box helicase 9							171.0	155.0	160.0					1																	182845333		1858	4091	5949	SO:0001589	frameshift_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182845333delT	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1964delT	1.37:g.182845333delT	ENSP00000356520:p.Val655fs						p.V655fs	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			17	2074	+			655			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Del	DEL	ENST00000367549.3	37	c.1964delT	CCDS41444.1																																																																																				0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		11	1215						11	1215	---	---	---	---
APOBEC4	403314	broad.mit.edu	37	1	183616826	183616828	+	In_Frame_Del	DEL	TTC	TTC	-	rs141411396		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:183616826_183616828delTTC	ENST00000308641.4	-	2	1360_1362	c.1089_1091delGAA	c.(1087-1092)aagaaa>aaa	p.363_364KK>K	RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	363					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(1087-1092)aaa>aa		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)																																				SO:0001651	inframe_deletion	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183616826_183616828delTTC	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.1089_1091delGAA	1.37:g.183616835_183616837delTTC	ENSP00000310622:p.Lys364del					APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000367531.1_Intron|RGL1_ENST00000304685.3_Intron	p.KK363del	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN			2	1360_1362	-			363					Q8N7F6	In_Frame_Del	DEL	ENST00000308641.4	37	c.1089_1091delGAA	CCDS1358.1																																																																																				0.419	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		10	1185						10	1185	---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000272238.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(934-936)afs		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2																																				SO:0001589	frameshift_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10917819_10917820delAG	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.934_935delAG	2.37:g.10917829_10917830delAG	ENSP00000272238:p.Arg312fs					ATP6V1C2_ENST00000381661.3_Intron	p.R312fs	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	1043_1044	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		312					Q96EL8	Frame_Shift_Del	DEL	ENST00000272238.4	37	c.934_935delAG	CCDS42653.1																																																																																				0.604	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		14	444						14	444	---	---	---	---
ROCK2	9475	broad.mit.edu	37	2	11389837	11389837	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:11389837delA	ENST00000315872.6	-	4	860	c.412delT	c.(412-414)tggfs	p.W138fs	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTTCTTCCCAAAAAAAGGCA	0.358																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(412-414)ggfs		Rho-associated, coiled-coil containing protein kinase 2							128.0	123.0	125.0					2																	11389837		1859	4116	5975	SO:0001589	frameshift_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11389837delA	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.412delT	2.37:g.11389837delA	ENSP00000317985:p.Trp138fs					ROCK2_ENST00000462366.1_5'UTR	p.W138fs	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	4	860	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		138			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Frame_Shift_Del	DEL	ENST00000315872.6	37	c.412delT	CCDS42654.1																																																																																				0.358	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			7	769						7	769	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(349-354)agt>ag		additional sex combs like 2 (Drosophila)																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del					ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000497092.1_5'UTR	p.SS117del			Q76L83	ASXL2_HUMAN			5	644_646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		7	672						7	672	---	---	---	---
RTN4	57142	broad.mit.edu	37	2	55253745	55253746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:55253745_55253746insT	ENST00000337526.6	-	3	1732_1733	c.1489_1490insA	c.(1489-1491)atafs	p.I497fs	RTN4_ENST00000354474.6_Frame_Shift_Ins_p.I265fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	497					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTTTTCTTCTATTTTTTTTTCA	0.381																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1489-1491)agafs		reticulon 4																																				SO:0001589	frameshift_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253745_55253746insT	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1490dupA	2.37:g.55253754_55253754dupT	ENSP00000337838:p.Ile497fs					RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000357732.4_Intron	p.R497fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	1732_1733	-			497					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Frame_Shift_Ins	INS	ENST00000337526.6	37	c.1489_1490insA	CCDS42684.1																																																																																				0.381	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			9	548						9	548	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	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_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	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		7	425						7	425	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109380485	109380487	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:109380485_109380487delGAT	ENST00000283195.6	+	20	3616_3618	c.3490_3492delGAT	c.(3490-3492)gatdel	p.D1168del		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1168					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCCCATGGGGATGATGATGATG	0.424																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(3490-3492)del		RAN binding protein 2																																				SO:0001651	inframe_deletion	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380485_109380487delGAT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3490_3492delGAT	2.37:g.109380494_109380496delGAT	ENSP00000283195:p.Asp1168del						p.D1168del	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	3616_3618	+			1168					Q13074|Q15280|Q53TE2|Q59FH7	In_Frame_Del	DEL	ENST00000283195.6	37	c.3490_3492delGAT	CCDS2079.1																																																																																				0.424	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		10	793						10	793	---	---	---	---
ACVR2A	92	broad.mit.edu	37	2	148683685	148683686	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:148683685_148683686insA	ENST00000241416.7	+	10	1938_1939	c.1302_1303insA	c.(1303-1305)aaafs	p.K435fs	ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.K327fs|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.K435fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	435	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTGTTGTGCATAAAAAAAAGAG	0.366																																						ENST00000241416.7																			3	Deletion - Frameshift(3)	p.K437fs*5(3)	large_intestine(2)|ovary(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(1300-1305)caaaaafs		activin A receptor, type IIA																																				SO:0001589	frameshift_variant	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148683685_148683686insA		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1310dupA	2.37:g.148683693_148683693dupA	ENSP00000241416:p.Lys435fs					ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.QK326fs|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.QK434fs	p.QK434fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	10	1938_1939	+			434			Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Ins	INS	ENST00000241416.7	37	c.1302_1303insA	CCDS33301.1																																																																																				0.366	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		8	880						8	880	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167055992	167055992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:167055992delT	ENST00000409435.1	-	26	5156	c.5157delA	c.(5155-5157)aaafs	p.K1719fs	SCN9A_ENST00000375387.4_Frame_Shift_Del_p.K1720fs|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1719					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGGATGAACTTTTTTTGGGT	0.423																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5158-5160)aafs		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						234.0	251.0	245.0					2																	167055992		2201	4300	6501	SO:0001589	frameshift_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055992delT	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5157delA	2.37:g.167055992delT	ENSP00000386330:p.Lys1719fs					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs	p.K1720fs			Q15858	SCN9A_HUMAN			27	5500	-			1719					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Frame_Shift_Del	DEL	ENST00000409435.1	37	c.5160delA	CCDS46441.1																																																																																				0.423	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		7	1900						7	1900	---	---	---	---
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(865-867)acafs		corepressor interacting with RBPJ, 1																																				SO:0001589	frameshift_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213712_175213713insT	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.866dupA	2.37:g.175213721_175213721dupT	ENSP00000339723:p.Ile289fs					CIR1_ENST00000362053.5_3'UTR	p.T289fs	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	957_958	-			289			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Frame_Shift_Ins	INS	ENST00000342016.3	37	c.865_866insA	CCDS2256.1																																																																																				0.381	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		10	449						10	449	---	---	---	---
PLEKHA3	65977	broad.mit.edu	37	2	179343217	179343217	+	5'Flank	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:179343217delT	ENST00000234453.5	+	0	0				FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000424785.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAATGCATGGTTTTTGGCATC	0.522																																						ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(10-12)ccfs		FK506 binding protein 7							113.0	133.0	127.0					2																	179343217		2202	4300	6502	SO:0001631	upstream_gene_variant	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179343217delT	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343217delT	Exception_encountered					FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR	p.T4fs	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	68	-			4					Q4ZG69|Q86TQ1|Q9NXT3	Frame_Shift_Del	DEL	ENST00000234453.5	37	c.10delA	CCDS33336.1																																																																																				0.522	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		8	1505						8	1505	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-	rs375721540|rs574153391		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.66																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1975-1980)cct>c		tensin 1																																				SO:0001651	inframe_deletion	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712887_218712889delGCT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978delAGC	2.37:g.218712896_218712898delGCT	ENSP00000171887:p.Gln659del					TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del	p.QP659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2428_2430	-		Renal(207;0.0483)|Lung NSC(271;0.213)	659			Gln-rich.		Q4ZG71|Q6IPI5	In_Frame_Del	DEL	ENST00000171887.4	37	c.1976_1978delAGC	CCDS2407.1																																																																																				0.660	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		14	151						14	151	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		12	428						12	428	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		7	472						7	472	---	---	---	---
PDCD6IP	10015	broad.mit.edu	37	3	33866811	33866811	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:33866811delT	ENST00000307296.3	+	5	972	c.595delT	c.(595-597)tttfs	p.F200fs	PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	200	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCAAGAAGTATTTTTTTTAAA	0.368																																						ENST00000307296.3																			0				central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						c.(595-597)ttfs		programmed cell death 6 interacting protein							94.0	101.0	99.0					3																	33866811		2203	4300	6503	SO:0001589	frameshift_variant	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33866811delT	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.595delT	3.37:g.33866811delT	ENSP00000307387:p.Phe200fs					PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs	p.F200fs			Q8WUM4	PDC6I_HUMAN			5	972	+			200			BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Frame_Shift_Del	DEL	ENST00000307296.3	37	c.595delT	CCDS2660.1																																																																																				0.368	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			8	558						8	558	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723322	49723327	+	IGR	DEL	GCGCTG	GCGCTG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:49723322_49723327delGCGCTG	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_In_Frame_Del_p.QR406del|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1216-1221)del		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723322_49723327delGCGCTG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723322_49723327delGCGCTG						MST1_ENST00000383728.3_3'UTR	p.QR406del	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1577_1582	-			392			Kringle 4.		Q9BQ33|Q9P0Y2	In_Frame_Del	DEL	ENST00000296456.5	37	c.1216_1221delCAGCGC	CCDS2801.1																																																																																				0.704	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			14	813						14	813	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000288139.4_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		16	595						16	595	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)cat>ca		ELKS/RAB6-interacting/CAST family member 2																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del						p.HH931del	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036_3038	-			931			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		13	1333						13	1333	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		8	1345						8	1345	---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99568272	99568273	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:99568272_99568273insT	ENST00000354552.3	-	5	2717_2718	c.2247_2248insA	c.(2245-2250)aaactafs	p.L750fs	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.L326fs|FILIP1L_ENST00000331335.5_Frame_Shift_Ins_p.L750fs|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.L510fs|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.L510fs|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	750						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGCA	0.406																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2245-2250)aataaafs		filamin A interacting protein 1-like																																				SO:0001589	frameshift_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568272_99568273insT		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2248dupA	3.37:g.99568280_99568280dupT	ENSP00000346560:p.Leu750fs					FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs|CMSS1_ENST00000421999.2_Intron	p.NK749fs	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	2717_2718	-			749					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Frame_Shift_Ins	INS	ENST00000354552.3	37	c.2247_2248insA	CCDS43117.1																																																																																				0.406	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		8	991						8	991	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			12	1642						12	1642	---	---	---	---
P2RY13	53829	broad.mit.edu	37	3	151046142	151046142	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:151046142delT	ENST00000325602.5	-	2	721	c.702delA	c.(700-702)aaafs	p.K234fs	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	234					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AATCATATACTTTTTTTGCAA	0.338																																						ENST00000325602.5																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(700-702)aafs		purinergic receptor P2Y, G-protein coupled, 13							71.0	77.0	75.0					3																	151046142		2199	4297	6496	SO:0001589	frameshift_variant	53829					integral to membrane|plasma membrane		g.chr3:151046142delT	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.702delA	3.37:g.151046142delT	ENSP00000320376:p.Lys234fs					MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.K234fs	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	721	-			234					B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Frame_Shift_Del	DEL	ENST00000325602.5	37	c.702delA	CCDS3158.2																																																																																				0.338	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		9	458						9	458	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	CTG	-	rs61743912|rs370119073	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:167747642_167747644delCTG	ENST00000470487.1	-	10	2046_2048	c.1357_1359delCAG	c.(1357-1359)cagdel	p.Q453del	GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	453	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.64																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1357-1359)del		golgi integral membrane protein 4																																				SO:0001651	inframe_deletion	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747642_167747644delCTG	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1357_1359delCAG	3.37:g.167747651_167747653delCTG	ENSP00000417354:p.Gln453del					GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	p.Q453del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			10	2046_2048	-			453			Gln-rich.|Glu-rich.			In_Frame_Del	DEL	ENST00000470487.1	37	c.1357_1359delCAG	CCDS3204.1																																																																																				0.640	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			7	335						7	335	---	---	---	---
SEC62	7095	broad.mit.edu	37	3	169700663	169700664	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:169700663_169700664insA	ENST00000337002.4	+	4	478_479	c.420_421insA	c.(421-423)aaafs	p.K141fs	SEC62_ENST00000480708.1_Frame_Shift_Ins_p.K141fs|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	141					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						aagaaaaagagaaaaaaaaaga	0.277																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(418-423)gaaaaafs		SEC62 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169700663_169700664insA	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.429dupA	3.37:g.169700672_169700672dupA	ENSP00000337688:p.Lys141fs					SEC62_ENST00000480708.1_Frame_Shift_Ins_p.EK140fs|SEC62-AS1_ENST00000479626.1_RNA	p.EK140fs	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN			4	478_479	+			140					D3DNQ0|O00682|O00729	Frame_Shift_Ins	INS	ENST00000337002.4	37	c.420_421insA	CCDS3210.1																																																																																				0.277	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			7	201						7	201	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172052809	172052809	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:172052809delG	ENST00000336824.4	+	15	1816	c.1717delG	c.(1717-1719)ggafs	p.G573fs	FNDC3B_ENST00000416957.1_Frame_Shift_Del_p.G573fs|FNDC3B_ENST00000415807.2_Frame_Shift_Del_p.G573fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	573					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.G573*(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGACAGGCCTGGACCTCCTAC	0.453																																						ENST00000336824.4																			1	Substitution - Nonsense(1)	p.G573*(1)	lung(1)	breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(1717-1719)gafs		fibronectin type III domain containing 3B							205.0	198.0	200.0					3																	172052809		2203	4300	6503	SO:0001589	frameshift_variant	64778					endoplasmic reticulum|integral to membrane		g.chr3:172052809delG	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1717delG	3.37:g.172052809delG	ENSP00000338523:p.Gly573fs					FNDC3B_ENST00000416957.1_Frame_Shift_Del_p.G573fs|FNDC3B_ENST00000415807.2_Frame_Shift_Del_p.G573fs	p.G573fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	15	1816	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		573			Fibronectin type-III 4.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Frame_Shift_Del	DEL	ENST00000336824.4	37	c.1717delG	CCDS3217.1																																																																																				0.453	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		7	1413						7	1413	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-	rs530167757	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:184039744_184039746delGAA	ENST00000346169.2	+	10	1643_1645	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000342981.4_In_Frame_Del_p.E465del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1372-1374)del		eukaryotic translation initiation factor 4 gamma, 1																																				SO:0001651	inframe_deletion	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039744_184039746delGAA	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1372_1374delGAA	3.37:g.184039753_184039755delGAA	ENSP00000316879:p.Glu465del					EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del	p.E465del	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1786_1788	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		465			Poly-Glu.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	In_Frame_Del	DEL	ENST00000346169.2	37	c.1372_1374delGAA	CCDS3259.1																																																																																				0.562	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		8	565						8	565	---	---	---	---
SLC34A2	10568	broad.mit.edu	37	4	25678148	25678150	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:25678148_25678150delGCT	ENST00000382051.3	+	13	1900_1902	c.1850_1852delGCT	c.(1849-1854)cgctgc>cgc	p.C622del	SLC34A2_ENST00000503434.1_In_Frame_Del_p.C621del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.C621del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	622	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCAGATGCgctgctgctgctg	0.64			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1849-1854)cgc>c		solute carrier family 34 (type II sodium/phosphate contransporter), member 2																																				SO:0001651	inframe_deletion	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678148_25678150delGCT	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1850_1852delGCT	4.37:g.25678157_25678159delGCT	ENSP00000371483:p.Cys622del					SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del	p.RC617del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1900_1902	+		Breast(46;0.0503)	617			Cys-rich.		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	In_Frame_Del	DEL	ENST00000382051.3	37	c.1850_1852delGCT	CCDS3435.1																																																																																				0.640	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		9	303						9	303	---	---	---	---
TLR10	81793	broad.mit.edu	37	4	38774956	38774956	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:38774956delT	ENST00000308973.4	-	4	2861	c.2256delA	c.(2254-2256)aaafs	p.K752fs	TLR10_ENST00000506111.1_Frame_Shift_Del_p.K752fs|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Frame_Shift_Del_p.K752fs|TLR10_ENST00000361424.2_Frame_Shift_Del_p.K752fs	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	752	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CCAAGTATGCTTTTTTTTCCA	0.388																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(2254-2256)aafs		toll-like receptor 10							81.0	81.0	81.0					4																	38774956		2203	4300	6503	SO:0001589	frameshift_variant	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38774956delT	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.2256delA	4.37:g.38774956delT	ENSP00000308925:p.Lys752fs					TLR10_ENST00000506111.1_Frame_Shift_Del_p.K752fs|TLR10_ENST00000361424.2_Frame_Shift_Del_p.K752fs|TLR10_ENST00000508334.1_Frame_Shift_Del_p.K752fs	p.K752fs	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	2861	-			752			TIR.		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Frame_Shift_Del	DEL	ENST00000308973.4	37	c.2256delA	CCDS3445.1																																																																																				0.388	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			7	504						7	504	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)afs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs					FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	p.R483fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		17	385						17	385	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		8	233						8	233	---	---	---	---
EXOC1	55763	broad.mit.edu	37	4	56765964	56765965	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:56765964_56765965insA	ENST00000381295.2	+	17	2599_2600	c.2251_2252insA	c.(2251-2253)gaafs	p.E751fs	EXOC1_ENST00000349598.6_Frame_Shift_Ins_p.E736fs|EXOC1_ENST00000346134.7_Frame_Shift_Ins_p.E751fs	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	751					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TCTAGAAGCAGAAAAAAAAGAA	0.337																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(2251-2253)aaafs		exocyst complex component 1			,,	2,4262		0,2,2130					,,	5.4	1.0			91	2,8252		0,2,4125	no	frameshift,frameshift,frameshift	EXOC1	NM_178237.2,NM_018261.3,NM_001024924.1	,,	0,4,6255	A1A1,A1R,RR		0.0242,0.0469,0.032	,,	,,		4,12514				SO:0001589	frameshift_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56765964_56765965insA	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2259dupA	4.37:g.56765972_56765972dupA	ENSP00000370695:p.Glu751fs					EXOC1_ENST00000346134.7_Frame_Shift_Ins_p.K751fs|EXOC1_ENST00000349598.6_Frame_Shift_Ins_p.K736fs	p.K751fs	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			17	2599_2600	+	Glioma(25;0.08)|all_neural(26;0.101)		751					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Frame_Shift_Ins	INS	ENST00000381295.2	37	c.2251_2252insA	CCDS3502.1																																																																																				0.337	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		7	573						7	573	---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T	rs533914363		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aaacgafs	p.R75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.R75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(220-225)aagatgfs		cyclin-dependent kinase-like 2 (CDC2-related kinase)																																				SO:0001589	frameshift_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76539579_76539580insT	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.223dupA	4.37:g.76539588_76539588dupT	ENSP00000412365:p.Arg75fs					CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	925_926	-			75			Protein kinase.		B2R695	Frame_Shift_Ins	INS	ENST00000429927.2	37	c.222_223insA	CCDS3570.1																																																																																				0.322	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		13	391						13	391	---	---	---	---
CXXC4	80319	broad.mit.edu	37	4	105412465	105412467	+	5'UTR	DEL	GCC	GCC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:105412465_105412467delGCC	ENST00000426831.1	-	0	0_2				AC093628.1_ENST00000606234.1_RNA|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000394767.2_In_Frame_Del_p.G165del|CXXC4_ENST00000466963.1_Intron			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4						negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGGTCCTgctgccgccgccgccg	0.695																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(493-495)del		CXXC finger protein 4																																				SO:0001623	5_prime_UTR_variant	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412465_105412467delGCC		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.-15GGC>-	4.37:g.105412474_105412476delGCC						AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_5'UTR	p.G165del	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	943_945	-			0			Interaction with DVL1 (By similarity).			In_Frame_Del	DEL	ENST00000426831.1	37	c.493_495delGGC																																																																																					0.695	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		11	446						11	446	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:134073569_134073571delCTG	ENST00000264360.5	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	763	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2272-2277)ctc>ct		protocadherin 10																																				SO:0001651	inframe_deletion	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073569_134073571delCTG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2274_2276delCTG	4.37:g.134073578_134073580delCTG	ENSP00000264360:p.Cys763del						p.LC758del	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3100_3102	+			758			Cys-rich.		Q4W5F6|Q96SF0	In_Frame_Del	DEL	ENST00000264360.5	37	c.2274_2276delCTG	CCDS34063.1																																																																																				0.581	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		10	247						10	247	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-	rs372496848		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del|MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1948-1953)ccg>c		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810639_140810641delGCT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del					MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del|MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del	p.QP650del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2805_2807	-	all_hematologic(180;0.162)		646			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1949_1951delAGC	CCDS54805.1																																																																																				0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			9	297						9	297	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	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_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	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		8	391						8	391	---	---	---	---
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:174253277_174253279delTCC	ENST00000296503.5	-	5	1455_1457	c.582_584delGGA	c.(580-585)gaggaa>gaa	p.194_195EE>E	HMGB2_ENST00000438704.2_In_Frame_Del_p.194_195EE>E|RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000446922.2_In_Frame_Del_p.194_195EE>E			P26583	HMGB2_HUMAN	high mobility group box 2	194	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468																																						ENST00000296503.5																			1	Substitution - coding silent(1)	p.E194E(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(580-585)gaa>ga		high mobility group box 2			,,	25,4237		10,5,2116					,,	-1.4	1.0			279	85,8161		40,5,4078	no	coding,coding,coding	HMGB2	NM_002129.3,NM_001130689.1,NM_001130688.1	,,	50,10,6194	A1A1,A1R,RR		1.0308,0.5866,0.8794	,,	,,		110,12398				SO:0001651	inframe_deletion	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253277_174253279delTCC		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.582_584delGGA	4.37:g.174253286_174253288delTCC	ENSP00000296503:p.Glu197del					HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del	p.EE196del			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1455_1457	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	196			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	In_Frame_Del	DEL	ENST00000296503.5	37	c.582_584delGGA	CCDS3816.1																																																																																				0.468	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		7	512						7	512	---	---	---	---
BRD9	65980	broad.mit.edu	37	5	889776	889777	+	Intron	INS	-	-	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:889776_889777insA	ENST00000467963.1	-	4	567				BRD9_ENST00000494422.1_5'Flank|TRIP13_ENST00000166345.3_5'Flank|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.F13fs|BRD9_ENST00000483173.1_Intron|BRD9_ENST00000323510.4_Frame_Shift_Ins_p.F13fs|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.F13fs	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACAATTTAAGGAAAAAAAAATT	0.446																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(37-39)tctfs		bromodomain containing 9			,	2,4262		0,2,2130					,	-1.5	0.0			96	1,8253		0,1,4126	no	intron,intron	BRD9	NM_023924.4,NM_001009877.2	,	0,3,6256	A1A1,A1R,RR		0.0121,0.0469,0.024	,	,		3,12515				SO:0001627	intron_variant	65980						nucleic acid binding	g.chr5:889776_889777insA	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.401-14->T	5.37:g.889785_889785dupA						BRD9_ENST00000483173.1_Intron|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs	p.S13fs			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		1	37_38	-			0					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Frame_Shift_Ins	INS	ENST00000467963.1	37	c.38_39insT	CCDS34127.2																																																																																				0.446	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		7	459						7	459	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_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_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_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		12	1171						12	1171	---	---	---	---
AFF4	27125	broad.mit.edu	37	5	132270259	132270259	+	Frame_Shift_Del	DEL	T	T	-	rs35626495		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:132270259delT	ENST00000265343.5	-	3	877	c.498delA	c.(496-498)aaafs	p.K166fs	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	166	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATGCTGGCCTTTTTTCCGGC	0.512																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(496-498)aafs		AF4/FMR2 family, member 4							164.0	160.0	161.0					5																	132270259		2203	4300	6503	SO:0001589	frameshift_variant	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132270259delT	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.498delA	5.37:g.132270259delT	ENSP00000265343:p.Lys166fs					AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs|AFF4_ENST00000491831.1_5'UTR	p.K166fs	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	877	-		all_cancers(142;0.145)|Breast(839;0.198)	166			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Frame_Shift_Del	DEL	ENST00000265343.5	37	c.498delA	CCDS4164.1																																																																																				0.512	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		8	961						8	961	---	---	---	---
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gagfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.46																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(268-270)gfs		IK cytokine, down-regulator of HLA II																																				SO:0001589	frameshift_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032593_140032594delGA	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.268_269delGA	5.37:g.140032603_140032604delGA	ENSP00000396301:p.Glu90fs					IK_ENST00000523672.1_3'UTR	p.E90fs	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	407_408	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	90					Q6IPD8	Frame_Shift_Del	DEL	ENST00000417647.2	37	c.268_269delGA	CCDS47280.1																																																																																				0.460	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		7	264						7	264	---	---	---	---
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-	rs375722663	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	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		15	64						15	64	---	---	---	---
KCTD16	57528	broad.mit.edu	37	5	143853531	143853531	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:143853531delA	ENST00000507359.3	+	3	2232	c.1141delA	c.(1141-1143)aaafs	p.K383fs	KCTD16_ENST00000512467.1_Frame_Shift_Del_p.K383fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	383					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CATGAGCAGCAAAAAAAAAGC	0.468																																						ENST00000507359.2																			0				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(1141-1143)aafs		potassium channel tetramerization domain containing 16				51,4211		5,41,2085	53.0	63.0	59.0			4.8	1.0	5		61	75,8177		18,39,4069	no	frameshift	KCTD16	NM_020768.3		23,80,6154	A1A1,A1R,RR		0.9089,1.1966,1.0069			143853531	126,12388	2203	4300	6503	SO:0001589	frameshift_variant	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143853531delA	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1141delA	5.37:g.143853531delA	ENSP00000426548:p.Lys383fs					KCTD16_ENST00000512467.1_Frame_Shift_Del_p.K383fs	p.K383fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	2232	+		all_hematologic(541;0.118)	383					Q9P2M9	Frame_Shift_Del	DEL	ENST00000507359.3	37	c.1141delA	CCDS34260.1																																																																																				0.468	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		11	443						11	443	---	---	---	---
JAKMIP2	9832	broad.mit.edu	37	5	147011063	147011064	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:147011063_147011064delTC	ENST00000265272.5	-	14	2254_2255	c.1787_1788delGA	c.(1786-1788)agafs	p.R597fs	JAKMIP2_ENST00000507386.1_Frame_Shift_Del_p.R576fs|JAKMIP2_ENST00000333010.6_Frame_Shift_Del_p.R555fs	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	597						Golgi apparatus (GO:0005794)		p.E595fs*17(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGGATCGTCTCTCTCTCTC	0.371																																						ENST00000265272.5																			1	Deletion - Frameshift(1)	p.E595fs*17(1)	breast(1)	NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(1786-1788)afs		janus kinase and microtubule interacting protein 2																																				SO:0001589	frameshift_variant	9832					Golgi apparatus		g.chr5:147011063_147011064delTC	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1787_1788delGA	5.37:g.147011073_147011074delTC	ENSP00000265272:p.Arg597fs					JAKMIP2_ENST00000333010.6_Frame_Shift_Del_p.R555fs|JAKMIP2_ENST00000507386.1_Frame_Shift_Del_p.R576fs	p.R597fs	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	2254_2255	-			597					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Frame_Shift_Del	DEL	ENST00000265272.5	37	c.1787_1788delGA	CCDS4285.1																																																																																				0.371	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		9	203						9	203	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:149216400_149216402delCAG	ENST00000309241.5	+	8	2414_2416	c.2382_2384delCAG	c.(2380-2385)gacagc>gac	p.S799del	PPARGC1B_ENST00000360453.4_In_Frame_Del_p.S760del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.S735del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.S799del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	799	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601																																						ENST00000309241.5																			1	Substitution - Missense(1)	p.S795N(1)	breast(1)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2380-2385)gac>ga		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216400_149216402delCAG	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2382_2384delCAG	5.37:g.149216409_149216411delCAG	ENSP00000312649:p.Ser799del					PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del	p.DS794del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2414_2416	+			794			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2382_2384delCAG	CCDS4298.1																																																																																				0.601	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		8	840						8	840	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(454-459)agc>a		T-cell immunoglobulin and mucin domain containing 4																																				SO:0001651	inframe_deletion	91937					integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del					TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	511_513	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152			Thr-rich.		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																				0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		10	1484						10	1484	---	---	---	---
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		8	357						8	357	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30570264	30570266	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:30570264_30570266delGGA	ENST00000376511.2	-	19	2712_2714	c.2160_2162delTCC	c.(2158-2163)cctcca>cca	p.720_721PP>P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	720	Gly-rich.				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						GCCTCGGAATggaggaggaggag	0.67																																						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.(2158-2163)cca>cc		protein phosphatase 1, regulatory subunit 10				21,3195		2,17,1589						-7.6	0.5			35	55,6059		6,43,3008	no	coding	PPP1R10	NM_002714.2		8,60,4597	A1A1,A1R,RR		0.8996,0.653,0.8146				76,9254				SO:0001651	inframe_deletion	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30570264_30570266delGGA	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.2160_2162delTCC	6.37:g.30570273_30570275delGGA	ENSP00000365694:p.Pro721del						p.PP720del	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			19	2712_2714	-			720			Gly-rich.		O00405	In_Frame_Del	DEL	ENST00000376511.2	37	c.2160_2162delTCC	CCDS4681.1																																																																																				0.670	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		8	306						8	306	---	---	---	---
SLC26A8	116369	broad.mit.edu	37	6	35912065	35912065	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:35912065delT	ENST00000490799.1	-	20	2878	c.2525delA	c.(2524-2526)aatfs	p.N842fs	SLC26A8_ENST00000394602.2_Frame_Shift_Del_p.N737fs|SLC26A8_ENST00000355574.2_Frame_Shift_Del_p.N842fs	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGGACTTACATTTTTTTGGCT	0.398																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2524-2526)atfs		solute carrier family 26 (anion exchanger), member 8							71.0	73.0	72.0					6																	35912065		2203	4300	6503	SO:0001589	frameshift_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35912065delT	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2525delA	6.37:g.35912065delT	ENSP00000417638:p.Asn842fs					SLC26A8_ENST00000394602.2_Frame_Shift_Del_p.N737fs|SLC26A8_ENST00000355574.2_Frame_Shift_Del_p.N842fs	p.N842fs	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			20	2878	-			842			Interaction with RACGAP1.			Frame_Shift_Del	DEL	ENST00000490799.1	37	c.2525delA	CCDS4813.1																																																																																				0.398	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			7	490						7	490	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctctgc>ctc	p.C143del				Q99750	MDFI_HUMAN	MyoD family inhibitor	204					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(412-417)ctc>ct		MyoD family inhibitor																																				SO:0001651	inframe_deletion	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621169_41621171delCTG	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.414_416delCTG	6.37:g.41621178_41621180delCTG	ENSP00000362141:p.Cys143del						p.LC138del			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	601_603	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		199						In_Frame_Del	DEL	ENST00000373050.4	37	c.414_416delCTG																																																																																					0.655	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		7	541						7	541	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		7	409						7	409	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			12	325						12	325	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84896233	84896233	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:84896233delA	ENST00000403245.3	-	12	1332	c.1218delT	c.(1216-1218)tttfs	p.F406fs	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTTTTGTCAAAAAAAAGGT	0.358																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1216-1218)ttfs		KIAA1009							141.0	150.0	147.0					6																	84896233		2202	4300	6502	SO:0001589	frameshift_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84896233delA																												ENST00000403245.3:c.1218delT	6.37:g.84896233delA	ENSP00000385215:p.Phe406fs					KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs|KIAA1009_ENST00000461137.1_5'UTR	p.F406fs	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	12	1332	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	406						Frame_Shift_Del	DEL	ENST00000403245.3	37	c.1218delT	CCDS34494.2																																																																																				0.358	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			16	692						16	692	---	---	---	---
MCHR2	84539	broad.mit.edu	37	6	100382358	100382358	+	Frame_Shift_Del	DEL	A	A	-	rs200957067		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:100382358delA	ENST00000281806.2	-	5	937	c.623delT	c.(622-624)ttcfs	p.F208fs	MCHR2_ENST00000369212.2_Frame_Shift_Del_p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGTAGAGGGAAAAAAAAAGT	0.343																																						ENST00000281806.2																			1	Deletion - Frameshift(1)	p.F208fs*5(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(622-624)tcfs		melanin-concentrating hormone receptor 2			,	6,4258		0,6,2126	84.0	84.0	84.0		,	2.9	1.0	6		86	2,8246		0,2,4122	no	frameshift,frameshift	MCHR2	NM_032503.2,NM_001040179.1	,	0,8,6248	A1A1,A1R,RR		0.0242,0.1407,0.0639	,	,	100382358	8,12504	2203	4297	6500	SO:0001589	frameshift_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100382358delA	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.623delT	6.37:g.100382358delA	ENSP00000281806:p.Phe208fs					MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs	p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	5	937	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	208					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Frame_Shift_Del	DEL	ENST00000281806.2	37	c.623delT	CCDS5044.1																																																																																				0.343	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		63	344						63	344	---	---	---	---
PPIL6	285755	broad.mit.edu	37	6	109757309	109757309	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:109757309delT	ENST00000521072.2	-	2	809	c.229delA	c.(229-231)aggfs	p.R77fs	PPIL6_ENST00000424445.2_Intron|AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	77					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338																																						ENST00000521072.2																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(229-231)ggfs		peptidylprolyl isomerase (cyclophilin)-like 6							112.0	120.0	117.0					6																	109757309		2203	4300	6503	SO:0001589	frameshift_variant	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109757309delT		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.229delA	6.37:g.109757309delT	ENSP00000427929:p.Arg77fs					PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs	p.R77fs	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	2	809	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	77					A9NIU0|A9NIU9|E7EX15	Frame_Shift_Del	DEL	ENST00000521072.2	37	c.229delA	CCDS5074.1																																																																																				0.338	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			7	601						7	601	---	---	---	---
LOC101927640	101927640	broad.mit.edu	37	6	112647041	112647042	+	RNA	INS	-	-	T	rs200224283|rs141995828	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:112647041_112647042insT	ENST00000587816.1	+	0	111				RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA																							GGCTTTGCAGCTTTTTTTTTTC	0.45													|||unknown(HR)	1723	0.34405	0.2277	0.2032	5008	,	,		17325	0.6657		0.2177	False		,,,				2504	0.3998					ENST00000587816.1																			0																																																			0							g.chr6:112647041_112647042insT																													6.37:g.112647051_112647051dupT						RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA								0	111	+									RNA	INS	ENST00000587816.1	37																																																																																						0.450	RP11-506B6.6-009	KNOWN	basic	antisense	antisense	OTTHUMT00000459266.1			2	4						2	4	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146264834	146264836	+	In_Frame_Del	DEL	ATC	ATC	-	rs561556028		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:146264834_146264836delATC	ENST00000367505.2	-	9	1945_1947	c.1681_1683delGAT	c.(1681-1683)gatdel	p.D561del	SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000367503.3_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	561					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAGTAAGGATCATCATCATCA	0.36																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1681-1683)del		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264834_146264836delATC	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1681_1683delGAT	6.37:g.146264843_146264845delATC	ENSP00000356475:p.Asp561del					SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del	p.D561del	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2079_2081	-		Ovarian(120;0.0365)	561					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	In_Frame_Del	DEL	ENST00000367505.2	37	c.1681_1683delGAT	CCDS43513.2																																																																																				0.360	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		8	628						8	628	---	---	---	---
TBP	6908	broad.mit.edu	37	6	170871038	170871040	+	In_Frame_Del	DEL	CAA	CAA	-	rs71815788|rs55736770	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:170871038_170871040delCAA	ENST00000392092.2	+	3	493_495	c.214_216delCAA	c.(214-216)caadel	p.Q95del	TBP_ENST00000540980.1_In_Frame_Del_p.Q75del|TBP_ENST00000230354.6_In_Frame_Del_p.Q95del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing. {ECO:0000269|PubMed:2374612}.	Missing (in Ref. 4; BAG65425). {ECO:0000305}.	cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcagcagcaacagcaacagc	0.567																																						ENST00000392092.2																			3	Deletion - In frame(3)	p.Q72del(3)	ovary(1)|prostate(1)|breast(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(214-216)del		TATA box binding protein																																				SO:0001651	inframe_deletion	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871038_170871040delCAA	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.214_216delCAA	6.37:g.170871038_170871040delCAA	ENSP00000375942:p.Gln95del					TBP_ENST00000540980.1_In_Frame_Del_p.Q75del|TBP_ENST00000230354.6_In_Frame_Del_p.Q95del	p.Q95del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	493_495	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	95		Missing.	Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Del	DEL	ENST00000392092.2	37	c.214_216delCAA	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		10	271						10	271	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:39379288_39379290delCAG	ENST00000403058.1	+	6	713_715	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_ENST00000518318.2_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728). {ECO:0000305}.	central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(559-561)del		POU class 6 homeobox 2																																				SO:0001651	inframe_deletion	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379288_39379290delCAG	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.559_561delCAG	7.37:g.39379297_39379299delCAG	ENSP00000384004:p.Gln196del					POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del	p.Q196del			P78424	PO6F2_HUMAN			5	601_603	+			196	Q -> QQ (in Ref. 1; AAB49727/AAB49728).		Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	In_Frame_Del	DEL	ENST00000403058.1	37	c.559_561delCAG	CCDS34620.2																																																																																				0.616	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		7	172						7	172	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA22_ENST00000384614.1_RNA|SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			12	78						12	78	---	---	---	---
TYW1B	441250	broad.mit.edu	37	7	72040750	72040751	+	RNA	INS	-	-	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:72040750_72040751insA	ENST00000435769.2	-	0	1909				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										AACATCCCTAGAAAAAAAAAAT	0.332																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)																																						441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72040750_72040751insA	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72040760_72040760dupA										Q6NUM6	TYW1B_HUMAN			0	1399	-								A6NG09|B4DFY2|Q3KQX2	RNA	INS	ENST00000435769.2	37																																																																																						0.332	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		9	134						9	134	---	---	---	---
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aaafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408																																						ENST00000257663.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(229-231)aafs		transmembrane protein 60							142.0	141.0	141.0					7																	77423460		2203	4300	6503	SO:0001589	frameshift_variant	85025					integral to membrane		g.chr7:77423460delT	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.231delA	7.37:g.77423460delT	ENSP00000257663:p.Lys77fs						p.K77fs	NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN			2	607	-			77					A4D1C3|Q86UM0	Frame_Shift_Del	DEL	ENST00000257663.3	37	c.231delA	CCDS5593.1																																																																																				0.408	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		17	725						17	725	---	---	---	---
LRRC17	10234	broad.mit.edu	37	7	102584992	102584993	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:102584992_102584993insA	ENST00000339431.4	+	4	1559_1560	c.1264_1265insA	c.(1264-1266)gaafs	p.E422fs	LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379306.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	422					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGATGAATGGGAAAAAAAACAT	0.337																																						ENST00000339431.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1264-1266)aaafs		leucine rich repeat containing 17																																				SO:0001589	frameshift_variant	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102584992_102584993insA	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.1272dupA	7.37:g.102585000_102585000dupA	ENSP00000344242:p.Glu422fs					LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|LRRC17_ENST00000485478.1_3'UTR	p.K422fs	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN			4	1559_1560	+			422					Q13288|Q6UWA7|Q75MG5	Frame_Shift_Ins	INS	ENST00000339431.4	37	c.1264_1265insA	CCDS34721.1																																																																																				0.337	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		8	404						8	404	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:114271580_114271582delCAG	ENST00000393494.2	+	6	876		c.e6-1		AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000393500.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512																																						ENST00000393500.3																			3	Unknown(3)	p.?(3)	endometrium(3)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.e12-1		forkhead box P2																																				SO:0001630	splice_region_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114271580_114271582delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.598-1CAG>-	7.37:g.114271589_114271591delCAG						FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site				O15409	FOXP2_HUMAN			12	1192	+								A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Splice_Site	DEL	ENST00000393494.2	37		CCDS5760.1																																																																																				0.512	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	Intron	7	41						7	41	---	---	---	---
TAS2R4	50832	broad.mit.edu	37	7	141478753	141478753	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:141478753delT	ENST00000247881.2	+	1	512	c.465delT	c.(463-465)cctfs	p.P155fs	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	155					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		AGGCATCACCTTTTCCTGAAC	0.468																																						ENST00000247881.2																			0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(463-465)ccfs		taste receptor, type 2, member 4							251.0	238.0	242.0					7																	141478753		2203	4300	6503	SO:0001589	frameshift_variant	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478753delT	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.465delT	7.37:g.141478753delT	ENSP00000247881:p.Pro155fs					SSBP1_ENST00000465582.1_Intron	p.P155fs	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	512	+	Melanoma(164;0.0171)		155					Q645W5|Q75MV8	Frame_Shift_Del	DEL	ENST00000247881.2	37	c.465delT	CCDS5868.1																																																																																				0.468	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			7	1372						7	1372	---	---	---	---
TRBV7-8	28590	broad.mit.edu	37	7	142099832	142099833	+	RNA	DEL	CA	CA	-	rs377589241|rs150299545|rs527701975	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:142099832_142099833delCA	ENST00000390359.3	-	0	88									T cell receptor beta variable 7-8																		accactctctcacacacacaca	0.455																																						ENST00000390359.3																			0																	68,3612		7,54,1779						-5.2	0.0			58	51,7855		15,21,3917	no	intergenic				22,75,5696	A1A1,A1R,RR		0.6451,1.8478,1.0271				119,11467						0							g.chr7:142099832_142099833delCA	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099842_142099843delCA														0	88	-									RNA	DEL	ENST00000390359.3	37																																																																																						0.455	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		7	290						7	290	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		17	8						17	8	---	---	---	---
USP17L2	377630	broad.mit.edu	37	8	11994579	11994580	+	IGR	DEL	TG	TG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	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		11	214						11	214	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	745	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2233-2235)del		deleted in liver cancer 1																																				SO:0001651	inframe_deletion	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957611_12957613delGCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2233_2235delAGC	8.37:g.12957620_12957622delGCT	ENSP00000276297:p.Ser745del					DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del	p.S745del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2642_2644	-			745			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	In_Frame_Del	DEL	ENST00000276297.4	37	c.2233_2235delAGC	CCDS5989.1																																																																																				0.621	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		9	333						9	333	---	---	---	---
NEFL	4747	broad.mit.edu	37	8	24811843	24811843	+	RNA	DEL	A	A	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:24811843delA	ENST00000221169.5	-	0	1639				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAATAAAACAAAAAAAAAAT	0.328																																						ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide				13,77,3392		0,0,13,0,77,1651	83.0	77.0	79.0			-0.0	0.0	8		84	21,171,7606		1,0,19,1,169,3709	no	intron	NEFL	NM_006158.3		1,0,32,1,246,5360	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4622,2.5847,2.5			24811843	34,248,10998	1807	4067	5874			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24811843delA		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24811843delA										P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1639	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	DEL	ENST00000221169.5	37																																																																																						0.328	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		17	256						17	256	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30695491	30695491	+	Frame_Shift_Del	DEL	T	T	-	rs571456178		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:30695491delT	ENST00000256246.2	-	3	7234	c.7160delA	c.(7159-7161)aagfs	p.K2387fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2387					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTTCAACCTTTTTTGGCGT	0.388																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7159-7161)agfs		testis expressed 15							183.0	183.0	183.0					8																	30695491		2203	4300	6503	SO:0001589	frameshift_variant	56154							g.chr8:30695491delT	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7160delA	8.37:g.30695491delT	ENSP00000256246:p.Lys2387fs						p.K2387fs	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7234	-			2387						Frame_Shift_Del	DEL	ENST00000256246.2	37	c.7160delA	CCDS6080.1																																																																																				0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			7	881						7	881	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(766-768)del		thymocyte selection-associated high mobility group box																																				SO:0001651	inframe_deletion	9760					nucleus	DNA binding	g.chr8:59750796_59750798delCTT		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.766_768delAAG	8.37:g.59750805_59750807delCTT	ENSP00000354842:p.Lys256del						p.K256del	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			5	986_988	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	256					Q96AV5	In_Frame_Del	DEL	ENST00000361421.1	37	c.766_768delAAG	CCDS34897.1																																																																																				0.453	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		12	949						12	949	---	---	---	---
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-	rs548441545|rs563445319	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	TP53INP1_ENST00000448464.2_In_Frame_Del_p.50_51EE>E|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_In_Frame_Del_p.50_51EE>E	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458														16	0.00319489	0.0045	0.0014	5008	,	,		22458	0.0		0.001	False		,,,				2504	0.0082					ENST00000342697.4																			1	Substitution - coding silent(1)	p.E50E(1)	large_intestine(1)	kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(148-153)gag>ga		tumor protein p53 inducible nuclear protein 1			,	50,2,4210		0,0,50,0,2,2079					,	-3.8	0.0			119	68,3,8183		0,0,68,0,3,4056	no	codingComplex,codingComplex	TP53INP1	NM_033285.3,NM_001135733.1	,	0,0,118,0,5,6135	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8602,1.2201,0.9827	,	,		118,5,12393				SO:0001651	inframe_deletion	0				apoptosis	PML body		g.chr8:95952409_95952411delTCT	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.150_152delAGA	8.37:g.95952418_95952420delTCT	ENSP00000344215:p.Glu52del					TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del	p.EE50del	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			3	557_559	-	Breast(36;8.75e-07)		50			Glu-rich.		B2RCE5|Q969R9	In_Frame_Del	DEL	ENST00000342697.4	37	c.150_152delAGA	CCDS6265.1																																																																																				0.458	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			7	329						7	329	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145000951	145000953	+	Splice_Site	DEL	CCT	CCT	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:145000951_145000953delCCT	ENST00000322810.4	-	30	4623_4625	c.4454_4456delAGG	c.(4453-4458)gagggg>ggg	p.E1485del	PLEC_ENST00000527096.1_Splice_Site_p.E1371del|PLEC_ENST00000345136.3_Splice_Site_p.E1348del|PLEC_ENST00000354958.2_Splice_Site_p.E1326del|PLEC_ENST00000436759.2_Splice_Site_p.E1375del|PLEC_ENST00000356346.3_Splice_Site_p.E1334del|PLEC_ENST00000398774.2_Splice_Site_p.E1316del|PLEC_ENST00000354589.3_Splice_Site_p.E1348del|PLEC_ENST00000357649.2_Splice_Site_p.E1352del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1485	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGGGCTGTACCTCCTCCTCCTC	0.621																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.e30+1		plectin																																				SO:0001630	splice_region_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145000951_145000953delCCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4455+1AGG>-	8.37:g.145000960_145000962delCCT						PLEC_ENST00000356346.3_Splice_Site_p.G1334_splice|PLEC_ENST00000436759.2_Splice_Site_p.G1375_splice|PLEC_ENST00000345136.3_Splice_Site_p.G1348_splice|PLEC_ENST00000354958.2_Splice_Site_p.G1326_splice|PLEC_ENST00000527096.1_Splice_Site_p.G1371_splice|PLEC_ENST00000357649.2_Splice_Site_p.G1352_splice|PLEC_ENST00000354589.3_Splice_Site_p.G1348_splice|PLEC_ENST00000398774.2_Splice_Site_p.G1316_splice	p.G1485_splice	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			30	4623_4625	-			1485			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Splice_Site	DEL	ENST00000322810.4	37	c.4455_splice	CCDS43772.1																																																																																				0.621	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	In_Frame_Del	12	800						12	800	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)aatfs	p.N973fs	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358																																						ENST00000259569.5																			1	Deletion - Frameshift(1)	p.N973fs*12(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2917-2919)atfs		RAN binding protein 6							109.0	102.0	104.0					9																	6012690		2203	4300	6503	SO:0001589	frameshift_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012690delT	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2918delA	9.37:g.6012690delT	ENSP00000259569:p.Asn973fs						p.N973fs	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2928	-		Acute lymphoblastic leukemia(23;0.158)	973					Q5T7X4|Q7Z3V2|Q96E78	Frame_Shift_Del	DEL	ENST00000259569.5	37	c.2918delA	CCDS6467.1																																																																																				0.358	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		11	511						11	511	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)aggfs	p.R298fs	MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(892-894)ggfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							144.0	150.0	148.0					9																	20413952		2203	4300	6503	SO:0001589	frameshift_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20413952delT	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.892delA	9.37:g.20413952delT	ENSP00000369695:p.Arg298fs					MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs	p.R298fs	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	1178	-			298					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Frame_Shift_Del	DEL	ENST00000380338.4	37	c.892delA	CCDS6494.1																																																																																				0.393	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	1271						8	1271	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633584	32633584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:32633584delT	ENST00000242310.4	-	1	2083	c.1994delA	c.(1993-1995)aagfs	p.K665fs	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	665					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.K665fs*4(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATCTTGGCCTTTTTTTTGAT	0.478																																						ENST00000242310.4																			2	Deletion - Frameshift(2)	p.K665fs*4(2)	large_intestine(2)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1993-1995)agfs		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							151.0	142.0	145.0					9																	32633584		2203	4300	6503	SO:0001589	frameshift_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633584delT	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1994delA	9.37:g.32633584delT	ENSP00000418379:p.Lys665fs					RP11-555J4.4_ENST00000430787.1_RNA	p.K665fs	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2083	-			665					Q0VG57	Frame_Shift_Del	DEL	ENST00000242310.4	37	c.1994delA	CCDS35003.1																																																																																				0.478	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			9	865						9	865	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	TCC	-	rs137929518	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	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		7	896						7	896	---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98278959	98278961	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:98278959_98278961delTTC	ENST00000375274.2	-	1	286_288	c.142_144delGAA	c.(142-144)gaadel	p.E48del	PTCH1_ENST00000430669.2_5'UTR|PTCH1_ENST00000468211.2_5'UTR|PTCH1_ENST00000437951.1_5'UTR|RP11-435O5.4_ENST00000604650.1_RNA			Q13635	PTC1_HUMAN	patched 1	0					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ctcctccgttttcttcttcttct	0.586																																						ENST00000375274.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(142-144)del		patched 1																																				SO:0001651	inframe_deletion	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98278959_98278961delTTC	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000375274.2:c.142_144delGAA	9.37:g.98278968_98278970delTTC	ENSP00000364423:p.Glu48del					PTCH1_ENST00000437951.1_5'UTR|PTCH1_ENST00000468211.2_5'UTR|PTCH1_ENST00000430669.2_5'UTR	p.E48del			Q13635	PTC1_HUMAN			1	286_288	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	0					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	In_Frame_Del	DEL	ENST00000375274.2	37	c.142_144delGAA	CCDS47995.1																																																																																				0.586	PTCH1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406923.1	NM_000264		7	508						7	508	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		10	281						10	281	---	---	---	---
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-	rs201725154		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1813-1815)del		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)																																			SO:0001651	inframe_deletion	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759490_133759492delAAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1813_1815delAAG	9.37:g.133759499_133759501delAAG	ENSP00000323315:p.Lys609del						p.K609del	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2194_2196	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	609			Poly-Lys.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	In_Frame_Del	DEL	ENST00000318560.5	37	c.1813_1815delAAG	CCDS35166.1																																																																																				0.616	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		40	945						40	945	---	---	---	---
CELP	1057	broad.mit.edu	37	9	135962494	135962494	+	RNA	DEL	C	C	-	rs371110017|rs386739105|rs386739104|rs370277311		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:135962494delC	ENST00000411440.2	+	0	1001					NR_001275.2				carboxyl ester lipase pseudogene																		TCTGAGGCTGCCCCCGTGTCC	0.677																																						ENST00000411440.2																			0																																																			0							g.chr9:135962494delC	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962494delC								NR_001275.2						0	1001	+									RNA	DEL	ENST00000411440.2	37																																																																																						0.677	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808		5	10						5	10	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137693829	137693829	+	Frame_Shift_Del	DEL	C	C	-	rs377265020		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:137693829delC	ENST00000371817.3	+	38	3396	c.2982delC	c.(2980-2982)ggcfs	p.G994fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	994	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.G997fs*17(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCCTCCAGGCCCCCCCGGCG	0.657																																						ENST00000371817.3																			1	Insertion - Frameshift(1)	p.G997fs*17(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2980-2982)ggfs		collagen, type V, alpha 1							67.0	67.0	67.0					9																	137693829		2203	4299	6502	SO:0001589	frameshift_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137693829delC	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2982delC	9.37:g.137693829delC	ENSP00000360882:p.Gly994fs						p.G994fs	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	38	3396	+		Myeloproliferative disorder(178;0.0341)	994			Triple-helical region.		Q15094|Q5SUX4	Frame_Shift_Del	DEL	ENST00000371817.3	37	c.2982delC	CCDS6982.1																																																																																				0.657	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		9	647						9	647	---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27702951	27702951	+	Frame_Shift_Del	DEL	G	G	-	rs570928509	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:27702951delG	ENST00000438700.3	-	1	346	c.229delC	c.(229-231)cggfs	p.R77fs		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	77					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATCGACGGCCGGGGGGGTGCA	0.716													?|GGGGGGG|GGGGGG|unsure	4	0.000798722	0.0023	0.0014	5008	,	,		10313	0.0		0.0	False		,,,				2504	0.0					ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(229-231)ggfs		patched domain containing 3				18,29,4159		0,0,18,2,25,2058	23.0	30.0	28.0			-4.6	0.0	10		28	14,53,8073		0,0,14,0,53,4003	no	codingComplex	PTCHD3	NM_001034842.3		0,0,32,2,78,6061	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8231,1.1175,0.9234			27702951	32,82,12232	2191	4279	6470	SO:0001589	frameshift_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702951delG	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.229delC	10.37:g.27702951delG	ENSP00000417658:p.Arg77fs						p.R77fs	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	346	-			77					I3L499|Q6ZU28	Frame_Shift_Del	DEL	ENST00000438700.3	37	c.229delC	CCDS31173.1																																																																																				0.716	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		8	382						8	382	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)gtfs		transmembrane 9 superfamily member 3							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs						p.S72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		7	741						7	741	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:103919000_103919002delAGC	ENST00000605788.1	+	6	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000405356.1_In_Frame_Del_p.S227del	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(658-660)del		nucleolar and coiled-body phosphoprotein 1																																				SO:0001651	inframe_deletion	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919000_103919002delAGC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.658_660delAGC	10.37:g.103919009_103919011delAGC	ENSP00000474710:p.Ser227del					NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000603742.1_5'UTR	p.S227del			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	6	893_895	+		Colorectal(252;0.122)	227			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	In_Frame_Del	DEL	ENST00000605788.1	37	c.658_660delAGC	CCDS7530.1																																																																																				0.517	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		7	871						7	871	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		7	865						7	865	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1819-1821)del		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2024_2026	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		7	774						7	774	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCCGCGTGACTGGTGGTGGTGGT	0.66																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(193-198)cag>ca		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001651	inframe_deletion	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034029_30034031delTGG	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.195_197delCCA	11.37:g.30034038_30034040delTGG	ENSP00000328511:p.His65del						p.HQ65del	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1428_1430	-			65			Poly-His.			In_Frame_Del	DEL	ENST00000328224.6	37	c.195_197delCCA	CCDS41629.1																																																																																				0.660	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		10	417						10	417	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861308	55861308	+	Frame_Shift_Del	DEL	T	T	-	rs112181516		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:55861308delT	ENST00000302124.2	+	1	556	c.525delT	c.(523-525)catfs	p.H175fs		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C178fs*2(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCATCAATCATTTTTTTTGTG	0.443																																						ENST00000302124.2																			1	Insertion - Frameshift(1)	p.C178fs*2(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(523-525)cafs		olfactory receptor, family 8, subfamily I, member 2							154.0	146.0	149.0					11																	55861308		2201	4296	6497	SO:0001589	frameshift_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861308delT	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.525delT	11.37:g.55861308delT	ENSP00000303864:p.His175fs					OR8I2_ENST00000560768.1_Frame_Shift_Del_p.H175fs	p.H175fs			Q8N0Y5	OR8I2_HUMAN			1	556	+	Esophageal squamous(21;0.00693)		175					B2RNN4|Q6IFC0|Q96RC5	Frame_Shift_Del	DEL	ENST00000302124.2	37	c.525delT	CCDS31517.1																																																																																				0.443	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		21	871						21	871	---	---	---	---
RPLP0P2	113157	broad.mit.edu	37	11	61405017	61405019	+	RNA	DEL	CTG	CTG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:61405017_61405019delCTG	ENST00000496593.1	+	0	1621_1623					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		acagctgctcctgctgctgctgc	0.557																																						ENST00000496593.1																			0																																																			0							g.chr11:61405017_61405019delCTG	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405026_61405028delCTG								NR_002775.2						0	1621_1623	+									RNA	DEL	ENST00000496593.1	37																																																																																						0.557	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		7	217						7	217	---	---	---	---
CTSC	1075	broad.mit.edu	37	11	88027341	88027341	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:88027341delG	ENST00000227266.5	-	7	1339	c.1225delC	c.(1225-1227)cttfs	p.L409fs		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	409					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGCCCACAAGCAGAACAGCA	0.502																																						ENST00000227266.5																			0				large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22						c.(1225-1227)ttfs		cathepsin C							138.0	111.0	120.0					11																	88027341		2201	4299	6500	SO:0001589	frameshift_variant	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88027341delG	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.1225delC	11.37:g.88027341delG	ENSP00000227266:p.Leu409fs						p.L409fs	NM_001814.4	NP_001805.3	P53634	CATC_HUMAN			7	1339	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	409					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Frame_Shift_Del	DEL	ENST00000227266.5	37	c.1225delC	CCDS8282.1																																																																																				0.502	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		15	421						15	421	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000532825.1_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					ENST00000535633.1																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e12-2		NADPH oxidase 4			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1313	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37		CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	15	724						15	724	---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-	rs539461545|rs375181781|rs369523216		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	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			7	182						7	182	---	---	---	---
VWA5A	4013	broad.mit.edu	37	11	124007800	124007801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:124007800_124007801insA	ENST00000456829.2	+	15	1955_1956	c.1704_1705insA	c.(1705-1707)aaafs	p.K569fs	VWA5A_ENST00000392748.1_Frame_Shift_Ins_p.K569fs|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	569										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CAGCAAGTGATAAAAAAGATGC	0.48																																						ENST00000456829.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1702-1707)gaaaaafs		von Willebrand factor A domain containing 5A																																				SO:0001589	frameshift_variant	4013							g.chr11:124007800_124007801insA	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1710dupA	11.37:g.124007806_124007806dupA	ENSP00000407726:p.Lys569fs					VWA5A_ENST00000392748.1_Frame_Shift_Ins_p.EK568fs|VWA5A_ENST00000360334.4_Intron	p.EK568fs	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			15	1955_1956	+			568					Q6UN19|Q6UN20|Q9BVF8	Frame_Shift_Ins	INS	ENST00000456829.2	37	c.1704_1705insA	CCDS8444.1																																																																																				0.480	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		98	305						98	305	---	---	---	---
ETV6	2120	broad.mit.edu	37	12	12022502	12022502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:12022502delC	ENST00000396373.4	+	5	882	c.608delC	c.(607-609)tccfs	p.S203fs		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	203					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCCTCCGGTCCCCCCTGGAC	0.632			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""		"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(607-609)tcfs		ets variant 6							126.0	143.0	137.0					12																	12022502		2203	4300	6503	SO:0001589	frameshift_variant	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022502delC	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.608delC	12.37:g.12022502delC	ENSP00000379658:p.Ser203fs						p.S203fs	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			5	882	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	203					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Frame_Shift_Del	DEL	ENST00000396373.4	37	c.608delC	CCDS8643.1																																																																																				0.632	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		9	1729						9	1729	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26640046	26640046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:26640046delT	ENST00000381340.3	-	40	5925	c.5509delA	c.(5509-5511)aggfs	p.R1837fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1837					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCATCGTCCCTTTTTTTGTTA	0.358																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(5509-5511)ggfs		inositol 1,4,5-trisphosphate receptor, type 2							206.0	188.0	193.0					12																	26640046		1860	4102	5962	SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26640046delT	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5509delA	12.37:g.26640046delT	ENSP00000370744:p.Arg1837fs						p.R1837fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			40	5925	-	Colorectal(261;0.0847)		1837					O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.5509delA	CCDS41764.1																																																																																				0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		11	786						11	786	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs	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|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA	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		12	932						12	932	---	---	---	---
ASIC1	41	broad.mit.edu	37	12	50452565	50452567	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:50452565_50452567delGAG	ENST00000447966.2	+	2	245_247	c.16_18delGAG	c.(16-18)gagdel	p.E9del	ASIC1_ENST00000228468.4_In_Frame_Del_p.E9del	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	9					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	ACTGAAGGCCGAGGAGGAGGAGG	0.616																																						ENST00000228468.4																			0											c.(16-18)del		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)																																			SO:0001651	inframe_deletion	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50452565_50452567delGAG	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.16_18delGAG	12.37:g.50452574_50452576delGAG	ENSP00000400228:p.Glu9del					ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del	p.E9del	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			2	401_403	+			9					A3KN86|E5KBL7|P78349|Q96CV2	In_Frame_Del	DEL	ENST00000447966.2	37	c.16_18delGAG	CCDS44876.1																																																																																				0.616	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		10	470						10	470	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			12	1387						12	1387	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:55759486delT	ENST00000343399.3	+	1	592	c.592delT	c.(592-594)tttfs	p.F199fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393																																						ENST00000343399.3																			1	Deletion - Frameshift(1)	p.L200fs*1(1)	large_intestine(1)	endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(592-594)ttfs		olfactory receptor, family 6, subfamily C, member 75							154.0	133.0	140.0					12																	55759486		2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759486delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.592delT	12.37:g.55759486delT	ENSP00000368987:p.Phe199fs						p.F199fs	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	592	+			199						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.592delT	CCDS31820.1																																																																																				0.393	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			10	737						10	737	---	---	---	---
RP11-74M13.4	0	broad.mit.edu	37	12	57255299	57255300	+	RNA	INS	-	-	A	rs139092727	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:57255299_57255300insA	ENST00000557452.1	+	0	720				SNORA48_ENST00000391081.1_RNA																							ATGGAAGAAGGAAaaaaaaata	0.426													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	26	0.00519169	0.0182	0.0	5008	,	,		18782	0.0		0.001	False		,,,				2504	0.001					ENST00000557452.1																			0																																																			0							g.chr12:57255299_57255300insA																													12.37:g.57255308_57255308dupA														0	720	+									RNA	INS	ENST00000557452.1	37																																																																																						0.426	RP11-74M13.4-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000410896.1			9	231						9	231	---	---	---	---
MARS	4141	broad.mit.edu	37	12	57883053	57883053	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:57883053delT	ENST00000262027.5	+	3	338	c.204delT	c.(202-204)tatfs	p.Y68fs	MARS_ENST00000315473.5_5'UTR|ARHGAP9_ENST00000550288.1_5'Flank|MARS_ENST00000447721.2_Intron|ARHGAP9_ENST00000393797.2_5'Flank	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	68					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGGGCAGATATTTTTTTTTGT	0.488																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(202-204)tafs		methionyl-tRNA synthetase	L-Methionine(DB00134)						103.0	103.0	103.0					12																	57883053		2203	4300	6503	SO:0001589	frameshift_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57883053delT	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.204delT	12.37:g.57883053delT	ENSP00000262027:p.Tyr68fs					MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_Intron	p.Y68fs	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		3	338	+			68					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Frame_Shift_Del	DEL	ENST00000262027.5	37	c.204delT	CCDS8942.1																																																																																				0.488	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		8	360						8	360	---	---	---	---
RILPL2	196383	broad.mit.edu	37	12	123907633	123907633	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:123907633delT	ENST00000280571.8	-	3	859	c.563delA	c.(562-564)aatfs	p.N188fs		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	188					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|primary cilium (GO:0072372)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CCTGCCAGCATTTTTGGCACT	0.468																																						ENST00000280571.8																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(562-564)atfs		Rab interacting lysosomal protein-like 2							186.0	169.0	175.0					12																	123907633		2203	4300	6503	SO:0001589	frameshift_variant	196383					cytosol|plasma membrane	identical protein binding	g.chr12:123907633delT	AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977			28787	protein-coding gene	gene with protein product		614093				14668488	Standard	NM_145058		Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.563delA	12.37:g.123907633delT	ENSP00000280571:p.Asn188fs						p.N188fs	NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)	3	859	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		188						Frame_Shift_Del	DEL	ENST00000280571.8	37	c.563delA	CCDS9248.1																																																																																				0.468	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145058		7	897						7	897	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(481-483)ttfs		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			,,	4,21,4229		0,0,4,1,19,2103	46.0	51.0	49.0		,,	2.4	0.0	13		49	5,25,8188		0,1,4,4,16,4084	no	codingComplex,intron,intron	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	,,	0,1,8,5,35,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3651,0.5877,0.441	,,	,,	20041394	9,46,12417	2200	4283	6483	SO:0001589	frameshift_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041394delA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.483delT	13.37:g.20041394delA	ENSP00000383089:p.Phe161fs					TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron	p.F161fs			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	527	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	161					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Frame_Shift_Del	DEL	ENST00000400230.2	37	c.483delT	CCDS45014.1																																																																																				0.303	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		8	310						8	310	---	---	---	---
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	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		14	473						14	473	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103524611	103524612	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:103524611_103524612insA	ENST00000355739.4	+	13	4165_4166	c.2742_2743insA	c.(2743-2745)aaafs	p.K915fs	BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Ins_p.E1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Ins_p.K148fs	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	915					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)					ACACCAAAGTGAAAAAAAAATT	0.431			"""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.(2740-2745)gtaaaafs	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5																																				SO:0001589	frameshift_variant	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103524611_103524612insA	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.2751dupA	13.37:g.103524620_103524620dupA	ENSP00000347978:p.Lys915fs					BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Ins_p.K1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Ins_p.VK147fs	p.VK914fs	NM_000123.3	NP_000114.2					13	4165_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_Ins	INS	ENST00000355739.4	37	c.2742_2743insA	CCDS32004.1																																																																																				0.431	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			8	268						8	268	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21884031	21884031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:21884031delT	ENST00000557364.1	-	6	2015	c.1752delA	c.(1750-1752)aaafs	p.K584fs	CHD8_ENST00000399982.2_Frame_Shift_Del_p.K584fs|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	584					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTCTGTATATTTTTTTCGCT	0.398																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(1750-1752)aafs		chromodomain helicase DNA binding protein 8							202.0	190.0	194.0					14																	21884031		1845	4090	5935	SO:0001589	frameshift_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21884031delT	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1752delA	14.37:g.21884031delT	ENSP00000451601:p.Lys584fs					CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Frame_Shift_Del_p.K584fs|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs	p.K584fs	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	5	1816	-	all_cancers(95;0.00121)		584					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	37	c.1752delA	CCDS53885.1																																																																																				0.398	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		7	1015						7	1015	---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-	rs571846793		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		7	1077						7	1077	---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23745310	23745310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:23745310delA	ENST00000357460.5	-	2	1291	c.1127delT	c.(1126-1128)ttafs	p.L376fs	HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L376fs*14(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGCACTGTAAAAAAAAGGA	0.488																																						ENST00000357460.5																			1	Deletion - Frameshift(1)	p.L376fs*14(1)	large_intestine(1)	endometrium(5)|lung(7)	12						c.(1126-1128)tafs		homeobox and leucine zipper encoding							112.0	119.0	116.0					14																	23745310		1948	4135	6083	SO:0001589	frameshift_variant	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23745310delA	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1127delT	14.37:g.23745310delA	ENSP00000350049:p.Leu376fs					HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs	p.L376fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1291	-	all_cancers(95;5.54e-06)		376					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Frame_Shift_Del	DEL	ENST00000357460.5	37	c.1127delT	CCDS45085.1																																																																																				0.488	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		8	327						8	327	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000397227.3_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			11	725						11	725	---	---	---	---
FAM177A1	283635	broad.mit.edu	37	14	35550228	35550230	+	Splice_Site	DEL	GAA	GAA	-	rs375314225		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:35550228_35550230delGAA	ENST00000382406.3	+	6	493_495	c.436_438delGAA	c.(436-438)gaadel	p.E152del	FAM177A1_ENST00000396472.1_Splice_Site_p.E152del|FAM177A1_ENST00000280987.4_Splice_Site_p.E175del			Q8N128	F177A_HUMAN	family with sequence similarity 177, member A1	152										breast(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						TTTTTTTTAGgaagaagaagaag	0.33																																						ENST00000396472.1																			0				breast(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						c.e7-1		family with sequence similarity 177, member A1			,	137,4127		0,137,1995					,	3.5	1.0			24	362,7886		0,362,3762	no	coding-near-splice,coding-near-splice	FAM177A1	NM_173607.3,NM_001079519.1	,	0,499,5757	A1A1,A1R,RR		4.3889,3.2129,3.9882	,	,		499,12013				SO:0001630	splice_region_variant	283635							g.chr14:35550228_35550230delGAA	BG722411	CCDS9653.2, CCDS41944.1	14q13.2	2008-07-09	2008-07-09	2008-07-09	ENSG00000151327	ENSG00000151327			19829	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 24"""	C14orf24			Standard	NM_001079519		Approved		uc001wsq.3	Q8N128	OTTHUMG00000140217	ENST00000382406.3:c.436-1GAA>-	14.37:g.35550237_35550239delGAA						FAM177A1_ENST00000382406.3_Splice_Site_p.E152_splice|FAM177A1_ENST00000280987.4_Splice_Site_p.E175_splice	p.E152_splice	NM_001079519.1	NP_001072987.1	Q8N128	F177A_HUMAN			7	895_897	+			152					Q68CT2	Splice_Site	DEL	ENST00000382406.3	37	c.435_splice	CCDS41944.1																																																																																				0.330	FAM177A1-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410816.1	NM_173607	In_Frame_Del	7	165						7	165	---	---	---	---
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-	rs369895963	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483														289	0.0577077	0.0681	0.0548	5008	,	,		16601	0.003		0.1352	False		,,,				2504	0.0225					ENST00000554725.1																			0																																																			0							g.chr14:57509058_57509064delTCCAAGC	BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57509065_57509071delTCCAAGC														0	344	+									RNA	DEL	ENST00000554725.1	37																																																																																						0.483	OTX2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000412895.1	NR_029385		15	109						15	109	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_ENST00000261302.5_In_Frame_Del_p.360_361SS>S|FOXN3_ENST00000557258.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000555353.1_In_Frame_Del_p.338_339SS>S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.65																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1078-1083)tca>tc		forkhead box N3			,	89,4171		9,71,2050					,	-2.3	1.0			26	192,8028		26,140,3944	no	coding,coding	FOXN3	NM_005197.3,NM_001085471.1	,	35,211,5994	A1A1,A1R,RR		2.3358,2.0892,2.2516	,	,		281,12199				SO:0001651	inframe_deletion	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89629149_89629151delGAG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1080_1082delCTC	14.37:g.89629158_89629160delGAG	ENSP00000343288:p.Ser361del					FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del	p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1196_1198	-			360					Q96II7|Q9UIE7	In_Frame_Del	DEL	ENST00000345097.4	37	c.1080_1082delCTC	CCDS41977.1																																																																																				0.650	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		7	246						7	246	---	---	---	---
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-	rs371215355|rs575196921	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		9	159						9	159	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93761193	93761193	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:93761193delT	ENST00000334746.5	-	3	480	c.173delA	c.(172-174)aagfs	p.K58fs	BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000555525.1_Frame_Shift_Del_p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	58					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.K58fs*44(2)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGAGGTTCTCTTTTTTTTGTC	0.438																																						ENST00000334746.5																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.K58fs*44(2)|p.R59fs*14(2)	large_intestine(4)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(172-174)agfs		BTB (POZ) domain containing 7							102.0	109.0	107.0					14																	93761193		2203	4300	6503	SO:0001589	frameshift_variant	55727							g.chr14:93761193delT	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.173delA	14.37:g.93761193delT	ENSP00000335615:p.Lys58fs					BTBD7_ENST00000298896.3_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Frame_Shift_Del_p.K58fs	p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	480	-		all_cancers(154;0.08)	58					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Frame_Shift_Del	DEL	ENST00000334746.5	37	c.173delA	CCDS32146.1																																																																																				0.438	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		9	957						9	957	---	---	---	---
CHEK2P2	646096	broad.mit.edu	37	15	20490739	20490739	+	RNA	DEL	G	G	-	rs143465906|rs397973810|rs537853281|rs61277225	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr15:20490739delG	ENST00000555186.1	+	0	568					NR_038836.1				checkpoint kinase 2 pseudogene 2																		GTTACAACCTGtttttttttt	0.423																																						ENST00000555186.1																			0																																																			0							g.chr15:20490739delG			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20490739delG								NR_038836.1						0	568	+									RNA	DEL	ENST00000555186.1	37																																																																																						0.423	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		8	412						8	412	---	---	---	---
NIPA2	81614	broad.mit.edu	37	15	23021238	23021239	+	Frame_Shift_Ins	INS	-	-	T	rs532440024|rs145147241|rs7170838	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr15:23021238_23021239insT	ENST00000337451.3	-	4	710_711	c.98_99insA	c.(97-99)aagfs	p.K33fs	NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.K33fs|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.K33fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.K33fs|NIPA2_ENST00000559571.1_5'Flank|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.K33fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	33						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GAAGGAGGCCCTTTTTTTTCAA	0.45																																						ENST00000337451.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(97-99)aggfs		non imprinted in Prader-Willi/Angelman syndrome 2																																				SO:0001589	frameshift_variant	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23021238_23021239insT	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.99dupA	15.37:g.23021246_23021246dupT	ENSP00000337618:p.Lys33fs					NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.R33fs	p.R33fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	4	710_711	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	33					F8W7Y8|Q96F03|Q9BVS2	Frame_Shift_Ins	INS	ENST00000337451.3	37	c.98_99insA	CCDS10010.1																																																																																				0.450	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		10	677						10	677	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR|PGBD4_ENST00000397766.2_5'Flank	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		9	1009						9	1009	---	---	---	---
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-	rs371085676|rs377432895	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del	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_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR	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		14	358						14	358	---	---	---	---
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr15:45710840_45710841insT	ENST00000305560.6	+	7	2153_2154	c.2054_2055insT	c.(2053-2058)tgttttfs	p.CF685fs	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	685						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCTG	0.361																																						ENST00000305560.6																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(2053-2055)tttfs		spermatogenesis associated 5-like 1																																				SO:0001589	frameshift_variant	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45710840_45710841insT	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2062dupT	15.37:g.45710848_45710848dupT	ENSP00000305494:p.Cys685fs					SPATA5L1_ENST00000533841.1_3'UTR	p.F685fs	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	7	2153_2154	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	685					C9JHR5|Q9H8W7|Q9HA41	Frame_Shift_Ins	INS	ENST00000305560.6	37	c.2054_2055insT	CCDS10123.1																																																																																				0.361	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		7	563						7	563	---	---	---	---
TCF12	6938	broad.mit.edu	37	15	57489984	57489984	+	Frame_Shift_Del	DEL	A	A	-	rs531495886		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr15:57489984delA	ENST00000267811.5	+	8	844	c.540delA	c.(538-540)gcafs	p.A180fs	TCF12_ENST00000333725.5_Frame_Shift_Del_p.A180fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.A180fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.A180fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.A176fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	180					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCTTGCAAGCAAAAAAAGTCA	0.343			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(538-540)gcfs		transcription factor 12							144.0	130.0	135.0					15																	57489984		2192	4292	6484	SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57489984delA	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.540delA	15.37:g.57489984delA	ENSP00000267811:p.Ala180fs					TCF12_ENST00000452095.2_Frame_Shift_Del_p.A176fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.A180fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.A180fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.A180fs	p.A180fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	8	844	+		Colorectal(260;0.0907)	180					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.540delA	CCDS10159.1																																																																																				0.343	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		7	545						7	545	---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-	rs369163190		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		11	542						11	542	---	---	---	---
CRAMP1L	57585	broad.mit.edu	37	16	1706239	1706239	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:1706239delC	ENST00000397412.3	+	10	1580	c.1481delC	c.(1480-1482)gccfs	p.A494fs	CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000293925.5_Frame_Shift_Del_p.A494fs|CRAMP1L_ENST00000436138.3_Frame_Shift_Del_p.A491fs|LA16c-431H6.6_ENST00000454337.1_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	494						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCCGAAAGCGCCCCCGGGGAG	0.692																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(1480-1482)gcfs		Crm, cramped-like (Drosophila)							13.0	16.0	15.0					16																	1706239		1795	3970	5765	SO:0001589	frameshift_variant	57585					nucleus	DNA binding	g.chr16:1706239delC	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1481delC	16.37:g.1706239delC	ENSP00000380559:p.Ala494fs					LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Frame_Shift_Del_p.A491fs|CRAMP1L_ENST00000293925.5_Frame_Shift_Del_p.A494fs|CRAMP1L_ENST00000262317.4_Intron	p.A494fs			Q96RY5	CRML_HUMAN			10	1580	+			494					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Frame_Shift_Del	DEL	ENST00000397412.3	37	c.1481delC	CCDS10440.2																																																																																				0.692	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			13	152						13	152	---	---	---	---
TIGD7	91151	broad.mit.edu	37	16	3350472	3350472	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:3350472delT	ENST00000396862.1	-	2	1971	c.143delA	c.(142-144)aatfs	p.N48fs	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Frame_Shift_Del_p.N48fs	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	48	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TAACTTCTTATTTTTTTTAAT	0.358																																						ENST00000396862.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(142-144)atfs		tigger transposable element derived 7				23,4241		11,1,2120	107.0	108.0	108.0			0.6	1.0	16		108	13,8241		5,3,4119	no	frameshift	TIGD7	NM_033208.3		16,4,6239	A1A1,A1R,RR		0.1575,0.5394,0.2876			3350472	36,12482	2197	4300	6497	SO:0001589	frameshift_variant	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3350472delT	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.143delA	16.37:g.3350472delT	ENSP00000380071:p.Asn48fs					TIGD7_ENST00000268674.2_Frame_Shift_Del_p.N48fs	p.N48fs	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN			2	1971	-			48			HTH psq-type.		Q9BXZ0	Frame_Shift_Del	DEL	ENST00000396862.1	37	c.143delA	CCDS10500.1																																																																																				0.358	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		8	706						8	706	---	---	---	---
RP11-420N3.2	0	broad.mit.edu	37	16	5313074	5313076	+	RNA	DEL	GGT	GGT	-	rs542176654		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:5313074_5313076delGGT	ENST00000569895.1	+	0	304				AC074051.1_ENST00000408882.1_RNA																							GCAGggtgacggtggtggtggtg	0.483																																						ENST00000569895.1																			0																																																			0							g.chr16:5313074_5313076delGGT																													16.37:g.5313083_5313085delGGT														0	304	+									RNA	DEL	ENST00000569895.1	37																																																																																						0.483	RP11-420N3.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000435404.2			9	292						9	292	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	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		10	1194						10	1194	---	---	---	---
RRN3P2	653390	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-	rs529995153	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:29110406delT	ENST00000564580.1	+	0	1098							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2																		TTAAAAAATCTTTTTTTTTTT	0.299													|||unknown(NO_COVERAGE)	393	0.0784744	0.1619	0.0403	5008	,	,		15270	0.0407		0.0278	False		,,,				2504	0.0838					ENST00000564580.1																			0																																																			0							g.chr16:29110406delT			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110406delT														0	1098	+									RNA	DEL	ENST00000564580.1	37																																																																																						0.299	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		15	162						15	162	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-	rs368747234		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994531_29994533delGAG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		7	327						7	327	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:29998498_29998500delCTG	ENST00000308893.4	+	16	3948_3950	c.2905_2907delCTG	c.(2905-2907)ctgdel	p.L974del	TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	974	Leu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTGCCCCTCCTGCTGCTGCTGC	0.709																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2905-2907)del		TAO kinase 2			,	25,3845		3,19,1913					,	-6.7	0.0			32	41,7581		7,27,3777	no	coding,intron	TAOK2	NM_016151.2,NM_004783.2	,	10,46,5690	A1A1,A1R,RR		0.5379,0.646,0.5743	,	,		66,11426				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998498_29998500delCTG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2905_2907delCTG	16.37:g.29998507_29998509delCTG	ENSP00000310094:p.Leu974del					TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000279394.3_Intron	p.L974del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	3948_3950	+			974			Leu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.2905_2907delCTG	CCDS10663.1																																																																																				0.709	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		8	497						8	497	---	---	---	---
FRG2KP	102724018	broad.mit.edu	37	16	31576130	31576131	+	RNA	DEL	TC	TC	-	rs72374895|rs398058199|rs34385075	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:31576130_31576131delTC	ENST00000565692.1	-	0	343																											TGAAAGGTGATCTCTCTCTCTC	0.515														3584	0.715655	0.9448	0.4827	5008	,	,		20755	0.5327		0.6491	False		,,,				2504	0.8282					ENST00000565692.1																			0																																																			0							g.chr16:31576130_31576131delTC																													16.37:g.31576140_31576141delTC														0	343	-									RNA	DEL	ENST00000565692.1	37																																																																																						0.515	CTD-2014E2.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432903.1			2	4						2	4	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229.0	242.0	238.0					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		10	2106						10	2106	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72992615	72992617	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:72992615_72992617delTCC	ENST00000268489.5	-	2	2100_2102	c.1428_1430delGGA	c.(1426-1431)gaggaa>gaa	p.476_477EE>E	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	476	Poly-Glu.				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)				ctcctcttcttcctcctcctcct	0.586																																						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.(1426-1431)gaa>ga		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.chr16:72992615_72992617delTCC	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.1428_1430delGGA	16.37:g.72992624_72992626delTCC	ENSP00000268489:p.Glu487del					ZFHX3_ENST00000397992.5_Intron	p.EE486del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	2100_2102	-		Ovarian(137;0.13)	486			Poly-Glu.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.1428_1430delGGA	CCDS10908.1																																																																																				0.586	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	289						7	289	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			8	9						8	9	---	---	---	---
RP11-150D5.2	0	broad.mit.edu	37	16	76268904	76268905	+	lincRNA	INS	-	-	T	rs200422509	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:76268904_76268905insT	ENST00000568714.1	-	0	135																											cttttcttttctttttttttGC	0.416													?|TTTTTTTTT|TTTTTTTTTT|unsure	13	0.00259585	0.0023	0.0	5008	,	,		21421	0.0099		0.0	False		,,,				2504	0.0					ENST00000568714.1																			0																																																			0							g.chr16:76268904_76268905insT																													16.37:g.76268913_76268913dupT														0	135	-									RNA	INS	ENST00000568714.1	37																																																																																						0.416	RP11-150D5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000434958.1			9	298						9	298	---	---	---	---
TCF25	22980	broad.mit.edu	37	16	89951019	89951020	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:89951019_89951020insA	ENST00000263346.8	+	3	440_441	c.384_385insA	c.(385-387)aaafs	p.K129fs	TCF25_ENST00000263347.7_5'Flank|TCF25_ENST00000563406.1_3'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	129					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCCGGAAGAAGAAAAAAAAACA	0.446																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(382-387)aaaaaafs		transcription factor 25 (basic helix-loop-helix)																																				SO:0001589	frameshift_variant	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89951019_89951020insA	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.393dupA	16.37:g.89951028_89951028dupA	ENSP00000263346:p.Lys129fs					TCF25_ENST00000563406.1_3'UTR	p.KK128fs	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	3	440_441	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	128					Q2MK75|Q9UPV3	Frame_Shift_Ins	INS	ENST00000263346.8	37	c.384_385insA	CCDS10987.1																																																																																				0.446	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		10	252						10	252	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:3721809_3721811delTCC	ENST00000389005.4	-	10	1083_1085	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_ENST00000158149.3_In_Frame_Del_p.72_73EE>E	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	352	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(214-219)gaa>ga		chromosome 17 open reading frame 85																																				SO:0001651	inframe_deletion	55421						nucleotide binding	g.chr17:3721809_3721811delTCC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1056_1058delGGA	17.37:g.3721818_3721820delTCC	ENSP00000373657:p.Glu359del					C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del	p.EE78del			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	11	1111_1113	-			358					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	In_Frame_Del	DEL	ENST00000389005.4	37	c.216_218delGGA	CCDS45578.1																																																																																				0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		7	549						7	549	---	---	---	---
TRPV2	51393	broad.mit.edu	37	17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1864-1869)gtg>g		transient receptor potential cation channel, subfamily V, member 2																																				SO:0001651	inframe_deletion	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335490_16335492delTGC	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del					TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del|TRPV2_ENST00000583241.1_3'UTR	p.VL622del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2264_2266	+			622					A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	c.1865_1867delTGC	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		8	332						8	332	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4573-4575)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027202_27027204delAGC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4573_4575delAGC	17.37:g.27027211_27027213delAGC	ENSP00000319104:p.Ser1528del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			34	4856_4858	+	Lung NSC(42;0.00431)		1528			Poly-Ser.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.4573_4575delAGC	CCDS32596.1																																																																																				0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		11	1623						11	1623	---	---	---	---
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-	rs148510452|rs556262610	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547																																						ENST00000269576.5																			0				NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11						c.(70-72)del		keratin 10			,,,	689,7,3556		198,0,293,0,7,1628					,,,	3.0	0.1		dbSNP_134	51	1494,8,6750		368,0,758,0,8,2992	no	intron,intron,intron,codingComplex	KRT10,TMEM99	NM_145274.3,NM_001195387.1,NM_001195386.1,NM_000421.3	,,,	566,0,1051,0,15,4620	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2016,16.3688,17.5784	,,,	,,,		2183,15,10306				SO:0001651	inframe_deletion	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978766_38978768delTCC	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.70_72delGGA	17.37:g.38978775_38978777delTCC	ENSP00000269576:p.Gly24del					TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	p.G24del	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN			1	79_81	-		Breast(137;0.000301)	24	Missing (in Ref. 1; AAA60544).		Gly-rich.|Head.		Q14664|Q8N175	In_Frame_Del	DEL	ENST00000269576.5	37	c.70_72delGGA	CCDS11377.1																																																																																				0.547	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		9	220						9	220	---	---	---	---
KLHL11	55175	broad.mit.edu	37	17	40011270	40011271	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:40011270_40011271delTC	ENST00000319121.3	-	2	908_909	c.848_849delGA	c.(847-849)agafs	p.R283fs		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	283	BACK.									NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CTTCAAAGTATCTCTCTCTCTC	0.401																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(847-849)afs		kelch-like family member 11																																				SO:0001589	frameshift_variant	55175					extracellular region		g.chr17:40011270_40011271delTC		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.848_849delGA	17.37:g.40011280_40011281delTC	ENSP00000314608:p.Arg283fs						p.R283fs	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	908_909	-		Breast(137;0.00156)	283			BACK.			Frame_Shift_Del	DEL	ENST00000319121.3	37	c.848_849delGA	CCDS11411.1																																																																																				0.401	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		7	368						7	368	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354|rs73995411|rs57786397|rs369163670	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	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			9	940						9	940	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			8	95						8	95	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050859	58050859	+	IGR	DEL	C	C	-	rs368813643		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:58050859delC	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTGGCAGTTTTTACT	0.418																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050859delC																													17.37:g.58050859delC														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.418	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			7	93						7	93	---	---	---	---
ACE	1636	broad.mit.edu	37	17	61560495	61560495	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:61560495delC	ENST00000290866.4	+	9	1472	c.1448delC	c.(1447-1449)accfs	p.T483fs	ACE_ENST00000290863.6_5'Flank|ACE_ENST00000538928.1_Intron|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000584529.1_Intron|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000428043.1_Frame_Shift_Del_p.T483fs	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	483	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGTGGGCGTACCCCCCCTTCC	0.562																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1447-1449)acfs		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						128.0	138.0	134.0					17																	61560495		2203	4300	6503	SO:0001589	frameshift_variant	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560495delC	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1448delC	17.37:g.61560495delC	ENSP00000290866:p.Thr483fs					ACE_ENST00000538928.1_Intron|ACE_ENST00000428043.1_Frame_Shift_Del_p.T483fs|ACE_ENST00000584529.1_Intron	p.T483fs	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			9	1472	+			483			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Frame_Shift_Del	DEL	ENST00000290866.4	37	c.1448delC	CCDS11637.1																																																																																				0.562	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			7	1606						7	1606	---	---	---	---
AMZ2P1	201283	broad.mit.edu	37	17	62968575	62968575	+	RNA	DEL	T	T	-	rs376847634	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:62968575delT	ENST00000430983.1	-	0	1593					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		TTGGTTGGAATTTTTTTCCCT	0.333													|||unknown(NO_COVERAGE)	3	0.000599042	0.0	0.0	5008	,	,		17809	0.0		0.0	False		,,,				2504	0.0031					ENST00000430983.1																			0																																																			0							g.chr17:62968575delT	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968575delT								NR_026903.1						0	1593	-									RNA	DEL	ENST00000430983.1	37																																																																																						0.333	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		7	445						7	445	---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65241533	65241534	+	5'Flank	INS	-	-	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:65241533_65241534insC	ENST00000358691.5	-	0	0				RP11-401F2.3_ENST00000585193.1_RNA|HELZ_ENST00000580662.1_5'Flank|HELZ_ENST00000580168.1_5'Flank	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger							membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGGGGTTTTCTCCCTTTCTCCT	0.673																																						ENST00000585193.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:65241533_65241534insC	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555		17.37:g.65241536_65241536dupC	Exception_encountered													0	372	+								I6L9H4	RNA	INS	ENST00000358691.5	37		CCDS42374.1																																																																																				0.673	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		2	4						2	4	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65905759	65905759	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:65905759delA	ENST00000321892.4	+	12	3313	c.3252delA	c.(3250-3252)ccafs	p.P1084fs	BPTF_ENST00000306378.6_Frame_Shift_Del_p.P958fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.P945fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.P1084fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1084					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CACGAAGTCCAAAAAAAATAA	0.308																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(3250-3252)ccfs		bromodomain PHD finger transcription factor			,	38,4214		0,38,2088	38.0	40.0	39.0		,	5.6	1.0	17		40	45,8205		3,39,4083	no	frameshift,frameshift	BPTF	NM_182641.3,NM_004459.6	,	3,77,6171	A1A1,A1R,RR		0.5455,0.8937,0.6639	,	,	65905759	83,12419	2202	4299	6501	SO:0001589	frameshift_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65905759delA	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3252delA	17.37:g.65905759delA	ENSP00000315454:p.Pro1084fs					BPTF_ENST00000306378.6_Frame_Shift_Del_p.P958fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.P1084fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.P945fs	p.P1084fs			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		12	3313	+	all_cancers(12;6e-11)		1084					Q6NX67|Q7Z7D6|Q9UIG2	Frame_Shift_Del	DEL	ENST00000321892.4	37	c.3252delA																																																																																					0.308	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		7	228						7	228	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67302911	67302912	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:67302911_67302912insT	ENST00000392676.3	-	6	806_807	c.742_743insA	c.(742-744)atafs	p.I248fs	ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.I248fs|ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.I248fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	248					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I248L(1)|p.I248fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AAATTCTTTTATTTTTTTTTCT	0.243																																						ENST00000392676.3																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.I248L(1)|p.I248fs*1(1)	large_intestine(1)|lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(742-744)aaafs		ATP-binding cassette, sub-family A (ABC1), member 5																																				SO:0001589	frameshift_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67302911_67302912insT	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.743dupA	17.37:g.67302920_67302920dupT	ENSP00000376443:p.Ile248fs					ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.K248fs|ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.K248fs	p.K248fs			Q8WWZ7	ABCA5_HUMAN			6	806_807	-	Breast(10;3.72e-11)		248					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Frame_Shift_Ins	INS	ENST00000392676.3	37	c.742_743insA	CCDS11685.1																																																																																				0.243	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		9	248						9	248	---	---	---	---
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)ggcdel	p.G15del	SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|GALR2_ENST00000329003.3_5'Flank|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1; AAF24308). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|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)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(43-45)del		signal recognition particle 68kDa				26,1444		5,16,714						-7.9	0.0			11	113,3743		17,79,1832	no	coding	SRP68	NM_014230.2		22,95,2546	A1A1,A1R,RR		2.9305,1.7687,2.6098				139,5187				SO:0001651	inframe_deletion	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068528_74068530delGCC	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.43_45delGGC	17.37:g.74068537_74068539delGCC	ENSP00000312066:p.Gly15del					SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	p.G15del	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			1	204_206	-			15	Missing (in Ref. 1).		Poly-Gly.		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	In_Frame_Del	DEL	ENST00000307877.2	37	c.43_45delGGC	CCDS11738.1																																																																																				0.709	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		9	445						9	445	---	---	---	---
TBC1D16	125058	broad.mit.edu	37	17	77926611	77926612	+	Frame_Shift_Ins	INS	-	-	G	rs559517523		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:77926611_77926612insG	ENST00000310924.2	-	4	900_901	c.785_786insC	c.(784-786)ccgfs	p.P262fs	TBC1D16_ENST00000340848.7_5'Flank|TBC1D16_ENST00000572862.1_5'Flank|TBC1D16_ENST00000570373.1_5'Flank|TBC1D16_ENST00000576768.1_5'Flank	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	262	Ser-rich.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CGGAGCTGGACGGGGGGCTGGT	0.653																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(784-786)ctcfs		TBC1 domain family, member 16																																				SO:0001589	frameshift_variant	125058					intracellular	Rab GTPase activator activity	g.chr17:77926611_77926612insG	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.786dupC	17.37:g.77926617_77926617dupG	ENSP00000309794:p.Pro262fs						p.L262fs	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		4	900_901	-	all_neural(118;0.167)		262			Ser-rich.		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Frame_Shift_Ins	INS	ENST00000310924.2	37	c.785_786insC	CCDS11766.1																																																																																				0.653	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		83	271						83	271	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21745032	21745033	+	Frame_Shift_Ins	INS	-	-	T	rs373316133		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:21745032_21745033insT	ENST00000319481.3	-	27	2952_2953	c.2746_2747insA	c.(2746-2748)acgfs	p.T916fs	OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T534fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T403fs|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	916					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CACGCACCTCGTCTTCCAGTCC	0.53																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2746-2748)gagfs		oxysterol binding protein-like 1A																																				SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745032_21745033insT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2747dupA	18.37:g.21745033_21745033dupT	ENSP00000320291:p.Thr916fs					OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.E403fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.E534fs	p.E916fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2952_2953	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		916					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Ins	INS	ENST00000319481.3	37	c.2746_2747insA	CCDS11884.1																																																																																				0.530	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		111	1158						111	1158	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21745087	21745087	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:21745087delC	ENST00000319481.3	-	27	2898	c.2692delG	c.(2692-2694)gaafs	p.E898fs	OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.E516fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.E385fs|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	898					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTTGTTTTTCCTCAAGTCGT	0.473																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2692-2694)aafs		oxysterol binding protein-like 1A							238.0	214.0	222.0					18																	21745087		2203	4300	6503	SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745087delC	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2692delG	18.37:g.21745087delC	ENSP00000320291:p.Glu898fs					OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.E385fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.E516fs	p.E898fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2898	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		898					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Del	DEL	ENST00000319481.3	37	c.2692delG	CCDS11884.1																																																																																				0.473	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		88	974						88	974	---	---	---	---
WBP11P1	441818	broad.mit.edu	37	18	30091782	30091782	+	RNA	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:30091782delT	ENST00000567636.1	+	0	157					NR_003558.1				WW domain binding protein 11 pseudogene 1																		tttctttttctttttttttAA	0.418																																						ENST00000567636.1																			0																																																			0							g.chr18:30091782delT	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30091782delT								NR_003558.1						0	157	+									RNA	DEL	ENST00000567636.1	37																																																																																						0.418	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			8	272						8	272	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-	rs144071785		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:34261459_34261460delAG	ENST00000359247.4	+	12	1371_1372	c.1371_1372delAG	c.(1369-1374)gcagagfs	p.E458fs	FHOD3_ENST00000590592.1_Frame_Shift_Del_p.E633fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.E420fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_Frame_Shift_Del_p.E458fs	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	458					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.46																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1369-1374)gcagfs		formin homology 2 domain containing 3																																				SO:0001589	frameshift_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34261459_34261460delAG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1371_1372delAG	18.37:g.34261469_34261470delAG	ENSP00000352186:p.Glu458fs					FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000591635.1_Intron	p.AE457fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			12	1493_1494	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	457					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	ENST00000359247.4	37	c.1371_1372delAG																																																																																					0.460	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		9	405						9	405	---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			12	880						12	880	---	---	---	---
UBXN6	80700	broad.mit.edu	37	19	4454085	4454085	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:4454085delT	ENST00000301281.6	-	2	213	c.89delA	c.(88-90)aagfs	p.K30fs	UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	30						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGTGGGCCTTTTCCCTGGG	0.667																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(88-90)agfs		UBX domain protein 6							102.0	115.0	111.0					19																	4454085		2203	4300	6503	SO:0001589	frameshift_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4454085delT	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.89delA	19.37:g.4454085delT	ENSP00000301281:p.Lys30fs					CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	p.K30fs	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			2	213	-			30					D6W626|Q96AH1|Q96IK9|Q9BZV0	Frame_Shift_Del	DEL	ENST00000301281.6	37	c.89delA	CCDS12129.1																																																																																				0.667	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		11	947						11	947	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)atgfs	p.M718fs	DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2152-2154)tgfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						266.0	220.0	236.0					19																	10262139		2203	4300	6503	SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262139delT	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2152delA	19.37:g.10262139delT	ENSP00000345739:p.Met718fs					DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs	p.M718fs			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2387	-			718					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Del	DEL	ENST00000340748.4	37	c.2152delA	CCDS12228.1																																																																																				0.507	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		10	902						10	902	---	---	---	---
CCDC130	81576	broad.mit.edu	37	19	13873132	13873134	+	In_Frame_Del	DEL	AGG	AGG	-	rs148655062		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:13873132_13873134delAGG	ENST00000586600.1	+	10	1096_1098	c.593_595delAGG	c.(592-597)caggag>cag	p.E202del	MRI1_ENST00000319545.8_5'Flank|MRI1_ENST00000040663.6_5'Flank|CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_In_Frame_Del_p.E202del			P13994	CC130_HUMAN	coiled-coil domain containing 130	202					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AAAGCCATCCAGGAGGAGGAGGA	0.586																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(592-597)cag>c		coiled-coil domain containing 130																																				SO:0001651	inframe_deletion	81576				response to virus		protein binding	g.chr19:13873132_13873134delAGG	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.593_595delAGG	19.37:g.13873141_13873143delAGG	ENSP00000465776:p.Glu202del					CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_In_Frame_Del_p.QE198del	p.QE198del			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		10	1096_1098	+			198					Q9BQ72	In_Frame_Del	DEL	ENST00000586600.1	37	c.593_595delAGG	CCDS12296.1																																																																																				0.586	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		7	687						7	687	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:17160706_17160707delGA	ENST00000253669.5	-	11	1399_1400	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.R404fs	CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000593360.1_Frame_Shift_Del_p.R343fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	404					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495																																						ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(1024-1029)tcgtfs		HAUS augmin-like complex, subunit 8																																				SO:0001589	frameshift_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17160706_17160707delGA	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.1209_1210delTC	19.37:g.17160714_17160715delGA	ENSP00000253669:p.Arg404fs					HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs	p.SR342fs			Q9BT25	HAUS8_HUMAN			10	3044_3045	-			403					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	ENST00000253669.5	37	c.1026_1027delTC	CCDS32948.1																																																																																				0.495	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		10	969						10	969	---	---	---	---
COMP	1311	broad.mit.edu	37	19	18896845	18896847	+	In_Frame_Del	DEL	GTC	GTC	-	rs28936669|rs312262897		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:18896845_18896847delGTC	ENST00000222271.2	-	13	1461_1463	c.1417_1419delGAC	c.(1417-1419)gacdel	p.D473del	COMP_ENST00000425807.1_In_Frame_Del_p.D420del|COMP_ENST00000542601.2_In_Frame_Del_p.D440del	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	473			D -> DD (in EDM1). {ECO:0000269|PubMed:21922596}.|D -> G (in PSACH; severe form; dbSNP:rs28936669).|D -> H (in PSACH). {ECO:0000269|PubMed:21922596}.|Missing (in PSACH; severe form). {ECO:0000269|PubMed:21922596}.		apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CTCCGTCATTGTCGTCGTCGTCG	0.675																																						ENST00000542601.2																			0				breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32	GRCh37	CD951672|CM980431|CM980432	COMP	D|M	rs28936669	c.(1318-1320)del		cartilage oligomeric matrix protein																																				SO:0001651	inframe_deletion	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18896845_18896847delGTC	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1417_1419delGAC	19.37:g.18896854_18896856delGTC	ENSP00000222271:p.Asp473del					COMP_ENST00000222271.2_In_Frame_Del_p.D473del|COMP_ENST00000425807.1_In_Frame_Del_p.D420del	p.D440del			P49747	COMP_HUMAN			12	1707_1709	-			473		G -> E (in PSACH; mild form).|G -> R (in PSACH; mild form).			B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	In_Frame_Del	DEL	ENST00000222271.2	37	c.1318_1320delGAC	CCDS12385.1																																																																																				0.675	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		7	158						7	158	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(172-174)del		free fatty acid receptor 2																																				SO:0001651	inframe_deletion	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940788_35940790delCTG	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.172_174delCTG	19.37:g.35940797_35940799delCTG	ENSP00000473159:p.Leu62del					FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del	p.L62del			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	252_254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		62					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	In_Frame_Del	DEL	ENST00000599180.2	37	c.172_174delCTG	CCDS12461.1																																																																																				0.645	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		7	234						7	234	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-	rs199960550		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.680	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		7	566						7	566	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(631-636)cgg>cg		CD3e molecule, epsilon associated protein			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR	p.RK211del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	211					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		20	682						20	682	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	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			7	413						7	413	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:54780707_54780709delGAG	ENST00000391749.4	-	10	1706_1708	c.1435_1437delCTC	c.(1435-1437)ctcdel	p.L479del	LILRB2_ENST00000391748.1_In_Frame_Del_p.L478del|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611																																						ENST00000391748.1																			1	Substitution - coding silent(1)	p.L479L(1)	lung(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1432-1434)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2																																				SO:0001651	inframe_deletion	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780707_54780709delGAG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1435_1437delCTC	19.37:g.54780716_54780718delGAG	ENSP00000375629:p.Leu479del					LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del	p.L478del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1559_1561	-	Ovarian(34;0.19)		479					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	In_Frame_Del	DEL	ENST00000391749.4	37	c.1432_1434delCTC	CCDS12886.1																																																																																				0.611	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			14	573						14	573	---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:3893120delT	ENST00000316562.4	+	4	1257	c.1251delT	c.(1249-1251)actfs	p.T417fs	PANK2_ENST00000610179.1_Frame_Shift_Del_p.T294fs|PANK2_ENST00000497424.1_Frame_Shift_Del_p.T126fs|PANK2_ENST00000464452.1_3'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(376-378)acfs		pantothenate kinase 2							141.0	152.0	148.0					20																	3893120		2203	4300	6503	SO:0001589	frameshift_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3893120delT	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1251delT	20.37:g.3893120delT	ENSP00000313377:p.Thr417fs					PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR	p.T126fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			4	689	+			417		G -> A (in dbSNP:rs3737084).			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Frame_Shift_Del	DEL	ENST00000316562.4	37	c.378delT	CCDS13071.2																																																																																				0.343	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		9	1616						9	1616	---	---	---	---
DSTN	11034	broad.mit.edu	37	20	17581679	17581680	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:17581679_17581680insT	ENST00000246069.7	+	2	646_647	c.300_301insT	c.(301-303)tttfs	p.F101fs	DSTN_ENST00000474024.1_Frame_Shift_Ins_p.F84fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	101	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAGAGTTGATGTTTTTTTTGTG	0.356																																						ENST00000246069.6																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(298-303)atttttfs		destrin (actin depolymerizing factor)																																				SO:0001589	frameshift_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581679_17581680insT	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.308dupT	20.37:g.17581687_17581687dupT	ENSP00000246069:p.Phe101fs					DSTN_ENST00000543261.1_Frame_Shift_Ins_p.IF83fs|DSTN_ENST00000474024.1_3'UTR	p.IF100fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	646_647	+			100			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Frame_Shift_Ins	INS	ENST00000246069.7	37	c.300_301insT	CCDS13127.1																																																																																				0.356	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		8	606						8	606	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		9	946						9	946	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-	rs200386201		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000428254.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.510	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			11	602						11	602	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)cagcaa>caa	p.1030_1031QQ>Q	NCOA6_ENST00000359003.2_In_Frame_Del_p.1030_1031QQ>Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCATTtgttgctgctgctgct	0.576																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(3088-3093)caa>ca		nuclear receptor coactivator 6																																				SO:0001651	inframe_deletion	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330968_33330970delTGC	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3090_3092delGCA	20.37:g.33330977_33330979delTGC	ENSP00000363929:p.Gln1032del					NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del	p.QQ1030del			Q14686	NCOA6_HUMAN			12	5660_5662	-			1030			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	In_Frame_Del	DEL	ENST00000374796.2	37	c.3090_3092delGCA	CCDS13241.1																																																																																				0.576	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		11	651						11	651	---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47858504	47858504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:47858504delA	ENST00000371764.4	+	17	2074	c.2065delA	c.(2065-2067)aaafs	p.K691fs	DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K691fs*4(3)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAGGATGCCAAAAAAAAGGG	0.488																																						ENST00000371764.4																			3	Deletion - Frameshift(3)	p.K691fs*4(3)	large_intestine(2)|ovary(1)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(2065-2067)aafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							67.0	72.0	70.0					20																	47858504		2203	4300	6503	SO:0001589	frameshift_variant	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47858504delA	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2065delA	20.37:g.47858504delA	ENSP00000360828:p.Lys691fs					ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR	p.K691fs	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		17	2074	+			691					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Frame_Shift_Del	DEL	ENST00000371764.4	37	c.2065delA	CCDS13416.1																																																																																				0.488	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			12	636						12	636	---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52645037	52645037	+	Frame_Shift_Del	DEL	T	T	-	rs143209009		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:52645037delT	ENST00000395961.3	-	4	783	c.617delA	c.(616-618)aagfs	p.K206fs	BCAS1_ENST00000411563.1_Frame_Shift_Del_p.K109fs|BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K206fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	206						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ACCTGGCACCTTTTCCTGTCC	0.552																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(616-618)agfs		breast carcinoma amplified sequence 1							227.0	209.0	215.0					20																	52645037		2203	4300	6503	SO:0001589	frameshift_variant	8537					cytoplasm	protein binding	g.chr20:52645037delT	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.617delA	20.37:g.52645037delT	ENSP00000379290:p.Lys206fs					BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000411563.1_Frame_Shift_Del_p.K109fs	p.K206fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	783	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		206					A0AVG5|Q68CZ3	Frame_Shift_Del	DEL	ENST00000395961.3	37	c.617delA	CCDS13444.1																																																																																				0.552	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		7	1350						7	1350	---	---	---	---
MIR99AHG	388815	broad.mit.edu	37	21	17443416	17443417	+	lincRNA	DEL	TG	TG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr21:17443416_17443417delTG	ENST00000458468.1	+	0	27					NR_027790.1																						TTTTTCTTTTTGTGTGTGTGTG	0.431																																						ENST00000458468.1																			0																																																			0							g.chr21:17443416_17443417delTG																													21.37:g.17443426_17443427delTG								NR_027790.1						0	27	+									RNA	DEL	ENST00000458468.1	37																																																																																						0.431	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			9	726						9	726	---	---	---	---
SLC5A3	6526	broad.mit.edu	37	21	35469260	35469274	+	In_Frame_Del	DEL	ACGGGAAATCTGAAG	ACGGGAAATCTGAAG	-	rs145773467	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr21:35469260_35469274delACGGGAAATCTGAAG	ENST00000381151.3	+	2	2275_2289	c.1763_1777delACGGGAAATCTGAAG	c.(1762-1779)aacgggaaatctgaagac>aac	p.GKSED589del	AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_In_Frame_Del_p.GKSED589del|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	589					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATCATTCCCAACGGGAAATCTGAAGACAGCATTAA	0.465																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1762-1779)aac>a		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3																																				SO:0001651	inframe_deletion	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35469260_35469274delACGGGAAATCTGAAG		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1763_1777delACGGGAAATCTGAAG	21.37:g.35469260_35469274delACGGGAAATCTGAAG	ENSP00000370543:p.Gly589_Asp593del					MRPS6_ENST00000399312.2_Intron	p.NGKSED588del	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	2275_2289	+			588					O43489	In_Frame_Del	DEL	ENST00000381151.3	37	c.1763_1777delACGGGAAATCTGAAG	CCDS33549.1																																																																																				0.465	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			38	386						38	386	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17071787	17071787	+	Frame_Shift_Del	DEL	T	T	-	rs531644766		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:17071787delT	ENST00000359963.3	-	1	1913	c.1654delA	c.(1654-1656)atcfs	p.I552fs		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	552					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AATCCAAGGATTTTTTTTGTT	0.408																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1654-1656)tcfs		chaperonin containing TCP1, subunit 8 (theta)-like 2																																				SO:0001589	frameshift_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17071787delT	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1654delA	22.37:g.17071787delT	ENSP00000353048:p.Ile552fs						p.I552fs	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1913	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	552					A4QPH3|Q9UJS3	Frame_Shift_Del	DEL	ENST00000359963.3	37	c.1654delA	CCDS13738.1																																																																																				0.408	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			8	566						8	566	---	---	---	---
DRICH1	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-	rs199862187|rs567906771	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gatgcc>gcc	p.D171del		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433														4	0.000798722	0.0	0.0029	5008	,	,		25110	0.001		0.0	False		,,,				2504	0.001					ENST00000317749.5																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						c.(511-516)gcc>g		chromosome 22 open reading frame 43				38,3770		2,34,1868						-0.9	0.0			110	95,7919		9,77,3921	no	coding	C22orf43	NM_016449.3		11,111,5789	A1A1,A1R,RR		1.1854,0.9979,1.125				133,11689				SO:0001651	inframe_deletion	51233							g.chr22:23959767_23959769delCAT																												ENST00000317749.5:c.512_514delATG	22.37:g.23959776_23959778delCAT	ENSP00000316137:p.Asp171del						p.DA171del	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN			7	809_811	-			171			Asp-rich.		Q6ICJ8|Q6P4I3|Q9NU31	In_Frame_Del	DEL	ENST00000317749.5	37	c.512_514delATG	CCDS42985.1																																																																																				0.433	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			14	439						14	439	---	---	---	---
NF2	4771	broad.mit.edu	37	22	30050682	30050682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:30050682delT	ENST00000338641.4	+	5	925	c.484delT	c.(484-486)tttfs	p.F162fs	NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	162	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CAAGCGGGGATTTTTGGCCCA	0.423			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		3	Unknown(3)	p.?(3)	large_intestine(1)|stomach(1)|central_nervous_system(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(484-486)ttfs		neurofibromin 2 (merlin)							143.0	145.0	144.0					22																	30050682		2203	4300	6503	SO:0001589	frameshift_variant	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30050682delT	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.484delT	22.37:g.30050682delT	ENSP00000344666:p.Phe162fs					NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs	p.F162fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			5	925	+			162			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Del	DEL	ENST00000338641.4	37	c.484delT	CCDS13861.1																																																																																				0.423	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		7	935						7	935	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						ENST00000215793.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(364-366)del		splicing factor 3a, subunit 1, 120kDa																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del					SF3A1_ENST00000439242.1_Intron	p.Q122del	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			3	518_520	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		15	545						15	545	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-	rs556869373		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_ENST00000407260.4_In_Frame_Del_p.312_313EE>E|RANGAP1_ENST00000405486.1_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000356244.3_In_Frame_Del_p.367_368EE>E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1099-1104)gaa>ga		Ran GTPase activating protein 1																																				SO:0001651	inframe_deletion	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650469_41650471delTCC	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1101_1103delGGA	22.37:g.41650478_41650480delTCC	ENSP00000401470:p.Glu368del					RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del	p.EE367del			P46060	RAGP1_HUMAN			10	2570_2572	-			367			Asp/Glu-rich (highly acidic).		Q96JJ2	In_Frame_Del	DEL	ENST00000455915.2	37	c.1101_1103delGGA	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		17	604						17	604	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	GCA	-	rs143615881		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:42262949_42262951delGCA	ENST00000361204.4	+	2	369_371	c.203_205delGCA	c.(202-207)ggcagc>ggc	p.S74del		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	74	Gly/Pro/Ser-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(202-207)ggc>g		sterol regulatory element binding transcription factor 2																																				SO:0001651	inframe_deletion	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42262949_42262951delGCA	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.203_205delGCA	22.37:g.42262958_42262960delGCA	ENSP00000354476:p.Ser74del						p.GS68del	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			2	369_371	+			68			Gly/Pro/Ser-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	In_Frame_Del	DEL	ENST00000361204.4	37	c.203_205delGCA	CCDS14023.1																																																																																				0.567	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		9	471						9	471	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	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		12	451						12	451	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)cccfs	p.P135fs	PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(394-396)ccfs		proline rich Gla (G-carboxyglutamic acid) 1							117.0	111.0	113.0					X																	37312611		2202	4300	6502	SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312611delC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.394delC	X.37:g.37312611delC	ENSP00000444278:p.Pro135fs					TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs	p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	666	+			135			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Del	DEL	ENST00000542554.1	37	c.394delC	CCDS14239.1																																																																																				0.488	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		8	559						8	559	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			14	29						14	29	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		8	543						8	543	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-	rs398123423|rs587780286		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaggaa>gaa	p.1459_1460EE>E	ATRX_ENST00000395603.3_In_Frame_Del_p.1421_1422EE>E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1459	Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ctcctcctcttcctcctcctcct	0.389			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4375-4380)gaa>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)		,	8,3713		0,6,2,1586,535					,	-5.4	0.0			152	29,6454		0,23,6,2334,1763	no	coding,coding	ATRX	NM_138270.2,NM_000489.3	,	0,29,8,3920,2298	A1A1,A1R,A1,RR,R		0.4473,0.215,0.3626	,	,		37,10167				SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76907782_76907784delTCC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4377_4379delGGA	X.37:g.76907791_76907793delTCC	ENSP00000362441:p.Glu1464del					ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR	p.EE1463del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			15	4591_4593	-			1463			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.4377_4379delGGA	CCDS14434.1																																																																																				0.389	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		7	430						7	430	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		10	708						10	708	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110494259	110494259	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:110494259delA	ENST00000324068.1	-	8	1211	c.1044delT	c.(1042-1044)tttfs	p.F348fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	348	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTTCGGCCAAAAATAGGGT	0.488																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1042-1044)ttfs		calpain 6							331.0	293.0	306.0					X																	110494259		2203	4300	6503	SO:0001589	frameshift_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494259delA	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1044delT	X.37:g.110494259delA	ENSP00000317214:p.Phe348fs					CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	p.F348fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			8	1211	-			348			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Frame_Shift_Del	DEL	ENST00000324068.1	37	c.1044delT	CCDS14555.1																																																																																				0.488	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			7	1711						7	1711	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		11	258						11	258	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:135314194delG	ENST00000316077.9	-	8	1142	c.922delC	c.(922-924)cagfs	p.Q308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACATTCACCTGGGGGGGTGCA	0.532																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(922-924)agfs		MAP7 domain containing 3							179.0	175.0	176.0					X																	135314194		2042	4171	6213	SO:0001589	frameshift_variant	79649					cytoplasm|spindle		g.chrX:135314194delG	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.922delC	X.37:g.135314194delG	ENSP00000318086:p.Gln308fs					MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs	p.Q308fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1142	-	Acute lymphoblastic leukemia(192;0.000127)		308					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Frame_Shift_Del	DEL	ENST00000316077.9	37	c.922delC	CCDS44004.1																																																																																				0.532	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			8	879						8	879	---	---	---	---
UTY	7404	broad.mit.edu	37	Y	15448217	15448218	+	Splice_Site	INS	-	-	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrY:15448217_15448218insA	ENST00000331397.4	-	16	2778		c.e16-2		UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000382896.4_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000362096.4_Splice_Site|UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000329134.5_Splice_Site	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked						regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						ATGAAGCCCCTAAAAAAAAAAA	0.361													T	2	0.00162206	0.0	0.0029	1233	,	,		21976	0.002		0.0	False		,,,				1233	0.0				Colon(103;1740 2135 40732 45171)	ENST00000331397.4																			0				kidney(1)|lung(6)	7						c.e16-2		ubiquitously transcribed tetratricopeptide repeat containing, Y-linked																																				SO:0001630	splice_region_variant	7404				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrY:15448217_15448218insA	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.1771-2->T	Y.37:g.15448228_15448228dupA						UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000382896.4_Splice_Site|UTY_ENST00000362096.4_Splice_Site|UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000329134.5_Splice_Site		NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN			16	2778	-								A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Splice_Site	INS	ENST00000331397.4	37		CCDS14783.1																																																																																				0.361	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1	NM_182660	Intron	8	71						8	71	---	---	---	---
