#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
WASH6P	653440	broad.mit.edu	37	X	155254905	155254905	+	RNA	SNP	G	G	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:155254905G>C	ENST00000461007.1	+	0	3821				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TTTCCCTCCAGGCATCTCTGG	0.597																																						ENST00000285718.7																			0																																																			0							g.chrX:155254905G>C	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254905G>C						WASH6P_ENST00000461007.1_RNA								0	1210	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37			.	.	.	.	.	.	.	.	.	.	g	13.19	2.161974	0.38217	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	WASH6P	154908099	1.000000	0.71417	0.179000	0.23059	0.637000	0.38172	4.457000	0.60088	0.418000	0.25898	0.171000	0.16805	.		0.597	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		23	47	0	0	0	0.681144	0	23	47				
GPR135	64582	broad.mit.edu	37	14	59930560	59930560	+	Missense_Mutation	SNP	C	C	T	rs201849909		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:59930560C>T	ENST00000395116.1	-	1	1500	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	462						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R462H(2)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TGGATTTTTGCGGGCCCACAT	0.607													c|||	1	0.000199681	0.0	0.0	5008	,	,		14292	0.001		0.0	False		,,,				2504	0.0					ENST00000395116.1																			2	Substitution - Missense(2)	p.R462H(2)	lung(1)|endometrium(1)	breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1384-1386)cGc>cAc		G protein-coupled receptor 135							33.0	35.0	34.0					14																	59930560		2203	4300	6503	SO:0001583	missense	64582					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:59930560C>T	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"""GPCR / Class A : Orphans"""	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.1385G>A	14.37:g.59930560C>T	ENSP00000378548:p.Arg462His						p.R462H	NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.134)	1	1500	-			462					Q7Z604|Q86SM3|Q8NH39	Missense_Mutation	SNP	ENST00000395116.1	37	c.1385G>A	CCDS9738.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	22.5	4.292998	0.80914	.	.	ENSG00000181619	ENST00000395116	T	0.61980	0.06	4.89	3.08	0.35506	.	0.387780	0.22539	U	0.058753	T	0.46034	0.1372	N	0.24115	0.695	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30297	-0.9983	10	0.39692	T	0.17	-2.7593	11.0647	0.47968	0.0:0.8502:0.0:0.1498	.	462	Q8IZ08	GP135_HUMAN	H	462	ENSP00000378548:R462H	ENSP00000378548:R462H	R	-	2	0	GPR135	59000313	1.000000	0.71417	0.940000	0.37924	0.994000	0.84299	3.548000	0.53670	0.675000	0.31264	0.651000	0.88453	CGC		0.607	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	NM_022571		4	153	0	0	0	0.150653	0	4	153				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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		12	747	0	0	0	0.500413	0	12	747				
CGB7	94027	broad.mit.edu	37	19	49558229	49558229	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:49558229T>C	ENST00000597853.1	-	4	2923	c.52A>G	c.(52-54)Aca>Gca	p.T18A	CGB7_ENST00000596965.1_Missense_Mutation_p.T18A|CGB7_ENST00000377280.3_Missense_Mutation_p.T18A|CGB7_ENST00000593309.1_5'Flank|CGB7_ENST00000356213.4_Missense_Mutation_p.T16A			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	18			T -> A. {ECO:0000269|PubMed:11861891}.		apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.T18A(1)		lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GATGCCCATGTCCCGCCCATG	0.657																																						ENST00000356213.4																			1	Substitution - Missense(1)	p.T18A(1)	urinary_tract(1)	lung(3)|urinary_tract(2)	5						c.(46-48)Aca>Gca		chorionic gonadotropin, beta polypeptide 7							89.0	66.0	74.0					19																	49558229		1504	2688	4192	SO:0001583	missense	94027							g.chr19:49558229T>C	K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.52A>G	19.37:g.49558229T>C	ENSP00000470813:p.Thr18Ala					CGB7_ENST00000597853.1_Missense_Mutation_p.T18A|CGB7_ENST00000377280.3_Missense_Mutation_p.T18A|CGB7_ENST00000596965.1_Missense_Mutation_p.T18A	p.T16A						all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	4	2923	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)						A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP	ENST00000597853.1	37	c.46A>G	CCDS33071.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.329503	0.00017	.	.	ENSG00000196337	ENST00000377280;ENST00000356213	T;T	0.38240	1.15;1.15	2.0	-0.578	0.11724	.	0.889152	0.09527	N	0.790128	T	0.12902	0.0313	.	.	.	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.09377	0.002;0.004	T	0.31833	-0.9929	9	0.05959	T	0.93	-23.5242	4.4433	0.11584	0.0:0.6359:0.0:0.3641	.	16;48	F5H162;A6NKQ9	.;CGB1_HUMAN	A	18;16	ENSP00000366493:T18A;ENSP00000348545:T16A	ENSP00000348545:T16A	T	-	1	0	CGB7	54250041	0.077000	0.21312	0.016000	0.15963	0.012000	0.07955	0.596000	0.24044	0.011000	0.14865	-1.140000	0.01884	ACA		0.657	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466254.1	NM_033142		5	493	0	0	0	0.335167	0	5	493				
PLS3	5358	broad.mit.edu	37	X	114871228	114871228	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:114871228G>A	ENST00000420625.2	+	8	963	c.829G>A	c.(829-831)Gca>Aca	p.A277T	PLS3_ENST00000537301.1_Missense_Mutation_p.A255T|PLS3_ENST00000289290.3_Missense_Mutation_p.A232T|PLS3_ENST00000355899.3_Missense_Mutation_p.A277T|PLS3_ENST00000539310.1_Missense_Mutation_p.A232T	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	277	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GCTTAGATGGGCAAACTTTCA	0.388																																					Colon(160;1047 1864 8490 12969 29601)	ENST00000420625.2																			0				NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						c.(829-831)Gca>Aca		plastin 3							124.0	125.0	125.0					X																	114871228		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114871228G>A	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.829G>A	X.37:g.114871228G>A	ENSP00000398945:p.Ala277Thr					PLS3_ENST00000289290.3_Missense_Mutation_p.A232T|PLS3_ENST00000539310.1_Missense_Mutation_p.A232T|PLS3_ENST00000537301.1_Missense_Mutation_p.A255T|PLS3_ENST00000355899.3_Missense_Mutation_p.A277T	p.A277T	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN			8	963	+			277			Actin-binding 1.|CH 2.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.829G>A	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679800	0.88542	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6	5.66	5.66	0.87406	Calponin homology domain (5);	0.095206	0.64402	D	0.000001	D	0.94394	0.8197	M	0.65975	2.015	0.80722	D	1	B;P;P	0.42620	0.242;0.785;0.636	B;B;B	0.43809	0.164;0.236;0.432	D	0.94546	0.7749	10	0.54805	T	0.06	-11.3604	17.1434	0.86760	0.0:0.0:1.0:0.0	.	250;255;277	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	T	277;255;232;277;232	ENSP00000348163:A277T;ENSP00000445105:A255T;ENSP00000289290:A232T;ENSP00000398945:A277T;ENSP00000445339:A232T	ENSP00000289290:A232T	A	+	1	0	PLS3	114777484	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.363000	0.80096	0.538000	0.68166	GCA		0.388	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			7	1180	0	0	0	0.248553	0	7	1180				
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76.0	70.0	72.0					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		7	320	0	0	0	0.248553	0	7	320				
LILRB2	10288	broad.mit.edu	37	19	54782828	54782828	+	Missense_Mutation	SNP	C	C	T	rs532414442		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:54782828C>T	ENST00000391749.4	-	6	1065	c.794G>A	c.(793-795)cGc>cAc	p.R265H	LILRB2_ENST00000314446.5_Missense_Mutation_p.R265H|LILRB2_ENST00000434421.1_Missense_Mutation_p.R149H|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_Missense_Mutation_p.R265H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R265H	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	265	Ig-like C2-type 3.				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)			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)		AGGGAGCTGGCGAAGGTCACG	0.637																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(793-795)cGc>cAc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							71.0	74.0	73.0					19																	54782828		2203	4300	6503	SO:0001583	missense	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.chr19:54782828C>T	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.794G>A	19.37:g.54782828C>T	ENSP00000375629:p.Arg265His					LILRB2_ENST00000434421.1_Missense_Mutation_p.R149H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R265H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R265H|LILRB2_ENST00000391749.4_Missense_Mutation_p.R265H	p.R265H	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	921	-	Ovarian(34;0.19)		265			Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.794G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018126	0.35606	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68	2.6	-3.34	0.04943	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.782710	0.03355	N	0.196682	T	0.17704	0.0425	L	0.42581	1.335	0.09310	N	1	D;P;D	0.58970	0.961;0.933;0.984	P;P;P	0.53809	0.735;0.735;0.735	T	0.24154	-1.0168	10	0.23302	T	0.38	.	5.3689	0.16129	0.6328:0.1698:0.1974:0.0	.	265;282;265	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	H	265;265;265;265;149	ENSP00000375628:R265H;ENSP00000319960:R265H;ENSP00000375629:R265H;ENSP00000375626:R265H;ENSP00000410117:R149H	ENSP00000319960:R265H	R	-	2	0	LILRB2	59474640	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.344000	0.02639	-1.121000	0.02949	-1.465000	0.01017	CGC		0.637	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			17	501	0	0	0	0.520397	0	17	501				
SMAD4	4089	broad.mit.edu	37	18	48593394	48593394	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr18:48593394A>T	ENST00000342988.3	+	10	1683	c.1145A>T	c.(1144-1146)cAc>cTc	p.H382L	SMAD4_ENST00000398417.2_Missense_Mutation_p.H382L|SMAD4_ENST00000588745.1_Missense_Mutation_p.H286L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	382	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CTAAGGTTGCACATAGGCAAA	0.338																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1144-1146)cAc>cTc		SMAD family member 4							180.0	151.0	161.0					18																	48593394		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48593394A>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1145A>T	18.37:g.48593394A>T	ENSP00000341551:p.His382Leu					SMAD4_ENST00000398417.2_Missense_Mutation_p.H382L|SMAD4_ENST00000588745.1_Missense_Mutation_p.H286L	p.H382L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	10	1683	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	382			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1145A>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.901257	0.92035	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98822	-5.16;-5.16	5.65	5.65	0.86999	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99873	1.1099	10	0.87932	D	0	.	14.8693	0.70444	1.0:0.0:0.0:0.0	.	382	Q13485	SMAD4_HUMAN	L	382	ENSP00000341551:H382L;ENSP00000381452:H382L	ENSP00000341551:H382L	H	+	2	0	SMAD4	46847392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.236000	0.95360	2.151000	0.67156	0.460000	0.39030	CAC		0.338	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		17	462	0	0	0	0.539581	0	17	462				
NBEA	26960	broad.mit.edu	37	13	35630161	35630161	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr13:35630161C>T	ENST00000400445.3	+	7	1521	c.987C>T	c.(985-987)agC>agT	p.S329S	NBEA_ENST00000379939.2_Silent_p.S329S|NBEA_ENST00000310336.4_Silent_p.S329S|NBEA_ENST00000540320.1_Silent_p.S329S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	329					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACATGATCAGCATTGTCCACA	0.318																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(985-987)agC>agT		neurobeachin							161.0	143.0	148.0					13																	35630161		1848	4085	5933	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35630161C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.987C>T	13.37:g.35630161C>T						NBEA_ENST00000400445.3_Silent_p.S329S|NBEA_ENST00000379939.2_Silent_p.S329S|NBEA_ENST00000310336.4_Silent_p.S329S	p.S329S			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	7	1521	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	329					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.987C>T	CCDS45026.1																																																																																				0.318	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		6	318	0	0	0	0.335167	0	6	318				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|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)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		5	338	0	0	0	0.217242	0	5	338				
MYH4	4622	broad.mit.edu	37	17	10348217	10348217	+	Splice_Site	SNP	C	C	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:10348217C>A	ENST00000255381.2	-	38	5577		c.e38-1		RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCTCTCACCTGGAAGGGAA	0.483																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.e38-1		myosin, heavy chain 4, skeletal muscle							261.0	205.0	224.0					17																	10348217		2203	4300	6503	SO:0001630	splice_region_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10348217C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5467-1G>T	17.37:g.10348217C>A						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA		NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			38	5577	-									Splice_Site	SNP	ENST00000255381.2	37		CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308539	0.81247	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7739	0.96383	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH4	10288942	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.776000	0.85560	2.744000	0.94065	0.655000	0.94253	.		0.483	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	Intron	6	721	1	0	0.000157383	0.278610	0.000162132	6	721				
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303																																						ENST00000582557.1																			0																																																			0							g.chr17:29061941T>C																													17.37:g.29061941T>C														0	861	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.303	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			6	277	0	0	0	0.248553	0	6	277				
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	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.S157S(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	0.527			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.S157S(5)	endometrium(3)|urinary_tract(1)|prostate(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.(469-471)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	14.0	12.0					9																	20414373		1757	3647	5404	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414373G>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.471C>T	9.37:g.20414373G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S	p.S157S	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	757	-			157			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.471C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	305	0	0	0	0.335167	0	8	305				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K669K	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		15	1118	0	0	0	0.457914	0	15	1118				
PASK	23178	broad.mit.edu	37	2	242046038	242046038	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:242046038C>A	ENST00000405260.1	-	18	4613	c.3915G>T	c.(3913-3915)gaG>gaT	p.E1305D	PASK_ENST00000539818.1_Missense_Mutation_p.E1089D|PASK_ENST00000475666.1_5'Flank|PASK_ENST00000234040.4_Missense_Mutation_p.E1305D|PASK_ENST00000544142.1_Missense_Mutation_p.E1119D|PASK_ENST00000358649.4_Missense_Mutation_p.E1312D	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1305					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CATTAGGAGCCTCGCCTGGAA	0.572																																						ENST00000405260.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(3913-3915)gaG>gaT		PAS domain containing serine/threonine kinase							90.0	101.0	97.0					2																	242046038		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242046038C>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3915G>T	2.37:g.242046038C>A	ENSP00000384016:p.Glu1305Asp					PASK_ENST00000544142.1_Missense_Mutation_p.E1119D|PASK_ENST00000539818.1_Missense_Mutation_p.E1089D|PASK_ENST00000234040.4_Missense_Mutation_p.E1305D|PASK_ENST00000358649.4_Missense_Mutation_p.E1312D	p.E1305D	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	18	4613	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1305					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.3915G>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	9.775	1.173846	0.21704	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.3;-0.33	3.19	2.23	0.28157	.	.	.	.	.	T	0.50240	0.1604	L	0.44542	1.39	0.09310	N	1	B;P;B;B	0.36874	0.213;0.572;0.318;0.213	B;B;B;B	0.29176	0.033;0.099;0.073;0.033	T	0.37407	-0.9707	9	0.39692	T	0.17	.	5.618	0.17442	0.0:0.833:0.0:0.167	.	1270;1119;1312;1305	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	D	1305;1119;1305;1312;1089	ENSP00000234040:E1305D;ENSP00000441374:E1119D;ENSP00000384016:E1305D;ENSP00000351475:E1312D;ENSP00000443083:E1089D	ENSP00000234040:E1305D	E	-	3	2	PASK	241694711	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.621000	0.24418	0.827000	0.34685	-0.355000	0.07637	GAG		0.572	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		6	948	1	0	0.0293803	0.248553	0.0297538	6	948				
CRYBB3	1417	broad.mit.edu	37	22	25597368	25597368	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:25597368C>T	ENST00000215855.2	+	2	85	c.5C>T	c.(4-6)gCg>gTg	p.A2V	CRYBB3_ENST00000404334.1_Missense_Mutation_p.A2V	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	2	N-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.A2V(1)		large_intestine(2)|lung(2)|prostate(1)	5						GGGGAGATGGCGGAACAGCAC	0.597																																						ENST00000215855.2																			1	Substitution - Missense(1)	p.A2V(1)	prostate(1)	large_intestine(2)|lung(2)|prostate(1)	5						c.(4-6)gCg>gTg		crystallin, beta B3							85.0	89.0	88.0					22																	25597368		2203	4300	6503	SO:0001583	missense	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25597368C>T		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.5C>T	22.37:g.25597368C>T	ENSP00000215855:p.Ala2Val					CRYBB3_ENST00000404334.1_Missense_Mutation_p.A2V	p.A2V	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN			2	85	+			2			N-terminal arm.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	c.5C>T	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307872	0.23821	.	.	ENSG00000100053	ENST00000215855;ENST00000404334	T;T	0.79554	-0.93;-1.28	4.81	2.29	0.28610	.	0.512848	0.13707	U	0.368369	T	0.64382	0.2593	L	0.34521	1.04	0.28366	N	0.920233	B	0.34313	0.448	B	0.25140	0.058	T	0.61192	-0.7112	10	0.72032	D	0.01	.	3.7975	0.08746	0.1677:0.5667:0.1634:0.1022	.	2	P26998	CRBB3_HUMAN	V	2	ENSP00000215855:A2V;ENSP00000386123:A2V	ENSP00000215855:A2V	A	+	2	0	CRYBB3	23927368	0.964000	0.33143	0.869000	0.34112	0.052000	0.14988	2.195000	0.42677	1.018000	0.39521	-0.122000	0.15005	GCG		0.597	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		6	736	0	0	0	0.248553	0	6	736				
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:37430948C>G	ENST00000602533.1	+	7	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGCCAGCAAAAGG	0.423																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(955-957)Cca>Gca		ankyrin repeat domain 30A							102.0	101.0	102.0					10																	37430948		1856	4094	5950	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430948C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.955C>G	10.37:g.37430948C>G	ENSP00000473551:p.Pro319Ala					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A	p.P319A			Q9BXX3	AN30A_HUMAN			7	1054	+			375					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.955C>G		.	.	.	.	.	.	.	.	.	.	.	0	-2.634296	0.00114	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.41400	1.17;1.0	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.45577	0.1349	L	0.40543	1.245	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.39292	-0.9621	8	0.15066	T	0.55	.	.	.	.	.	375	Q9BXX3	AN30A_HUMAN	A	319	ENSP00000354432:P319A;ENSP00000363792:P319A	ENSP00000354432:P319A	P	+	1	0	ANKRD30A	37470954	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	1.228000	0.32588	0.132000	0.18615	0.134000	0.15878	CCA		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		6	874	0	0	0	0.217242	0	6	874				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		8	454	1	0	1.08611e-07	0.387290	1.14858e-07	8	454				
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	RNA	SNP	T	T	C	rs79284655	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:32890639T>C	ENST00000330048.5	-	0	3159					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		ACCAGCGGCTTGTAGTACACA	0.627																																						ENST00000330048.5																			0																																																			0							g.chr16:32890639T>C	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890639T>C								NR_003083.2						0	3159	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.627	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	103	0	0	0	0.150653	0	4	103				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			8	599	0	0	0	0.335167	0	8	599				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		7	294	0	0	0	0.248553	0	7	294				
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493																																						ENST00000568624.1																			0																																																			0							g.chr15:28600002T>A																													15.37:g.28600002T>A														0	404	-									RNA	SNP	ENST00000568624.1	37			.	.	.	.	.	.	.	.	.	.	.	5.336	0.247398	0.10130	.	.	ENSG00000237850	ENST00000454724;ENST00000424531	.	.	.	.	.	.	.	.	.	.	.	T	0.14270	0.0345	.	.	.	.	.	.	B	0.11235	0.004	B	0.01281	0.0	T	0.23476	-1.0187	4	0.18276	T	0.48	.	.	.	.	.	112	B4DY83	.	H	118;116	.	ENSP00000393266:Q116H	Q	-	3	2	AC091304.2	26273597	0.988000	0.35896	0.117000	0.21633	0.118000	0.20060	-1.015000	0.03637	-2.183000	0.00763	-2.300000	0.00261	CAA		0.493	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			7	465	0	0	0	0.335167	0	7	465				
IGHG1	3500	broad.mit.edu	37	14	106207924	106207924	+	RNA	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:106207924G>T	ENST00000390548.2	-	0	878							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TGTCCACGGTGAGCTTGCTGT	0.592																																						ENST00000390548.2																			0																				146.0	103.0	117.0					14																	106207924		1979	4121	6100			0							g.chr14:106207924G>T	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106207924G>T														0	878	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.592	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		8	881	1	0	3.59834e-05	0.217242	3.73914e-05	8	881				
ZNF335	63925	broad.mit.edu	37	20	44578999	44578999	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:44578999C>T	ENST00000322927.2	-	22	3446	c.3346G>A	c.(3346-3348)Ggg>Agg	p.G1116R	ZNF335_ENST00000426788.1_Missense_Mutation_p.G961R	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1116					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.G1116W(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TTGAGGTGCCCGTTACGGTTG	0.612																																						ENST00000322927.2																			1	Substitution - Missense(1)	p.G1116W(1)	lung(1)	NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(3346-3348)Ggg>Agg		zinc finger protein 335							97.0	100.0	99.0					20																	44578999		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44578999C>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3346G>A	20.37:g.44578999C>T	ENSP00000325326:p.Gly1116Arg					ZNF335_ENST00000426788.1_Missense_Mutation_p.G961R	p.G1116R	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			22	3446	-		Myeloproliferative disorder(115;0.0122)	1116					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.3346G>A	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302358	0.60195	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.10192	3.05;2.9	4.64	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.03077	-1.1075	10	0.72032	D	0.01	-33.3619	17.0199	0.86431	0.0:1.0:0.0:0.0	.	961;1116	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	R	1116;893;961	ENSP00000325326:G1116R;ENSP00000397098:G961R	ENSP00000243961:G893R	G	-	1	0	ZNF335	44012406	1.000000	0.71417	0.964000	0.40570	0.400000	0.30750	7.178000	0.77657	2.585000	0.87301	0.655000	0.94253	GGG		0.612	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		53	644	0	0	0	0.870114	0	53	644				
LRP1	4035	broad.mit.edu	37	12	57606324	57606324	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:57606324G>A	ENST00000243077.3	+	89	14087	c.13621G>A	c.(13621-13623)Gac>Aac	p.D4541N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4541	Interaction with MAFB. {ECO:0000250}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGAGATAGGGGACCCCTTGGC	0.677																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(13621-13623)Gac>Aac		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						36.0	36.0	36.0					12																	57606324		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57606324G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13621G>A	12.37:g.57606324G>A	ENSP00000243077:p.Asp4541Asn						p.D4541N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	89	14087	+			4541			Interaction with MAFB (By similarity).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13621G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978696	0.74360	.	.	ENSG00000123384	ENST00000243077	D	0.91068	-2.78	4.66	4.66	0.58398	.	0.000000	0.56097	D	0.000037	D	0.85932	0.5812	L	0.44542	1.39	0.80722	D	1	B	0.27498	0.18	B	0.24848	0.056	D	0.84674	0.0713	10	0.66056	D	0.02	.	10.7064	0.45958	0.0925:0.0:0.9075:0.0	.	4541	Q07954	LRP1_HUMAN	N	4541	ENSP00000243077:D4541N	ENSP00000243077:D4541N	D	+	1	0	LRP1	55892591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.464000	0.80887	2.403000	0.81681	0.491000	0.48974	GAC		0.677	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		9	323	0	0	0	0.307466	0	9	323				
SLFN5	162394	broad.mit.edu	37	17	33591445	33591445	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:33591445C>T	ENST00000299977.4	+	4	1530	c.1382C>T	c.(1381-1383)gCg>gTg	p.A461V	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	461					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.A461V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AAGTGGGATGCGGGGTGCAAG	0.488																																						ENST00000299977.4																			1	Substitution - Missense(1)	p.A461V(1)	large_intestine(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(1381-1383)gCg>gTg		schlafen family member 5							106.0	101.0	102.0					17																	33591445		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33591445C>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1382C>T	17.37:g.33591445C>T	ENSP00000299977:p.Ala461Val					SLFN5_ENST00000542451.1_Intron	p.A461V	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	4	1530	+		Ovarian(249;0.17)	461					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.1382C>T	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	c	10.19	1.281290	0.23392	.	.	ENSG00000166750	ENST00000299977	T	0.02103	4.45	3.46	-6.55	0.01854	.	3.058740	0.01369	N	0.012514	T	0.02688	0.0081	M	0.62723	1.935	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.43065	-0.9414	10	0.32370	T	0.25	.	2.054	0.03577	0.1462:0.4354:0.1471:0.2712	.	461	Q08AF3	SLFN5_HUMAN	V	461	ENSP00000299977:A461V	ENSP00000299977:A461V	A	+	2	0	SLFN5	30615558	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-2.060000	0.01392	-1.294000	0.02360	-0.302000	0.09304	GCG		0.488	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		5	493	0	0	0	0.184627	0	5	493				
TULP4	56995	broad.mit.edu	37	6	158923248	158923248	+	Silent	SNP	G	G	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:158923248G>C	ENST00000367097.3	+	13	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	851					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCACCCCCGCCCCCTCTGC	0.657																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2551-2553)ccG>ccC		tubby like protein 4							5.0	6.0	6.0					6																	158923248		2080	4109	6189	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923248G>C		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2553G>C	6.37:g.158923248G>C						TULP4_ENST00000367094.2_Intron	p.P851P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	3910	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	851					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.2553G>C	CCDS34561.1																																																																																				0.657	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		9	63	0	0	0	0.500413	0	9	63				
LYPD3	27076	broad.mit.edu	37	19	43965886	43965886	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:43965886G>A	ENST00000244333.3	-	5	746	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	220	UPAR/Ly6 2.				cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GAGTTACAGCGGGACCCCTGG	0.622																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(658-660)Cgc>Tgc		LY6/PLAUR domain containing 3							92.0	95.0	94.0					19																	43965886		2203	4300	6503	SO:0001583	missense	27076					anchored to plasma membrane		g.chr19:43965886G>A	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.658C>T	19.37:g.43965886G>A	ENSP00000244333:p.Arg220Cys						p.R220C	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			5	746	-		Prostate(69;0.0153)	220			UPAR/Ly6 2.		Q9UJ74	Missense_Mutation	SNP	ENST00000244333.3	37	c.658C>T	CCDS12620.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578355	0.65878	.	.	ENSG00000124466	ENST00000244333;ENST00000377995	T	0.69926	-0.44	4.38	4.38	0.52667	CD59 antigen (1);	0.194301	0.35067	N	0.003473	T	0.71829	0.3386	L	0.36672	1.1	0.48975	D	0.999739	D	0.89917	1.0	D	0.70716	0.97	T	0.70461	-0.4865	10	0.38643	T	0.18	.	13.21	0.59819	0.0:0.0:1.0:0.0	.	220	O95274	LYPD3_HUMAN	C	220;168	ENSP00000244333:R220C	ENSP00000244333:R220C	R	-	1	0	LYPD3	48657726	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.529000	0.60588	2.396000	0.81511	0.603000	0.83216	CGC		0.622	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		28	736	0	0	0	0.706142	0	28	736				
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000464624.2_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		88	Substitution - Missense(88)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)cGt>cAt		GNAS complex locus							80.0	78.0	79.0					20																	57484421		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484421G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His	TSP Lung(22;0.16)				GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H	p.R844H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3083	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2531G>A	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		37	400	0	0	0	0.779181	0	37	400				
CHD8	57680	broad.mit.edu	37	14	21868724	21868724	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:21868724C>T	ENST00000557364.1	-	23	4681	c.4418G>A	c.(4417-4419)cGt>cAt	p.R1473H	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.R1473H|CHD8_ENST00000430710.3_Missense_Mutation_p.R1194H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1473					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)		TTCAGTCATACGTCGCTTGAA	0.428																																						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.(4417-4419)cGt>cAt		chromodomain helicase DNA binding protein 8							63.0	62.0	62.0					14																	21868724		1859	4101	5960	SO:0001583	missense	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.chr14:21868724C>T	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.4418G>A	14.37:g.21868724C>T	ENSP00000451601:p.Arg1473His					CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R1194H|CHD8_ENST00000557364.1_Missense_Mutation_p.R1473H	p.R1473H	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)	22	4482	-	all_cancers(95;0.00121)		1473					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.4418G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421067	0.25639	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.83335	-1.71;-1.71;-1.71	4.92	4.92	0.64577	.	0.061161	0.64402	D	0.000003	T	0.66327	0.2778	N	0.11313	0.125	0.51012	D	0.999901	B;B	0.11235	0.001;0.004	B;B	0.11329	0.005;0.006	T	0.61202	-0.7110	10	0.22706	T	0.39	-8.9064	10.6212	0.45481	0.0:0.9113:0.0:0.0887	.	1473;1194	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	H	1194;1473;1193;1473	ENSP00000406288:R1194H;ENSP00000382863:R1473H;ENSP00000451601:R1473H	ENSP00000262707:R1193H	R	-	2	0	CHD8	20938564	0.947000	0.32204	1.000000	0.80357	0.974000	0.67602	2.058000	0.41374	2.546000	0.85860	0.650000	0.86243	CGT		0.428	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		8	188	0	0	0	0.278610	0	8	188				
BMS1P20	96610	broad.mit.edu	37	22	22661756	22661756	+	RNA	SNP	T	T	G	rs200572688		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:22661756T>G	ENST00000426066.1	+	0	500					NR_027293.1				BMS1 pseudogene 20																		CTCCTAAGATTTTTCTCTTTT	0.333																																						ENST00000426066.1																			0																																																			0							g.chr22:22661756T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661756T>G								NR_027293.1						0	500	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.333	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	90	0	0	0	0.217242	0	6	90				
OR1L4	254973	broad.mit.edu	37	9	125486583	125486583	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:125486583C>T	ENST00000259466.1	+	1	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F105F(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGTACTTCTTCATGGCATTTG	0.473																																						ENST00000259466.1																			1	Substitution - coding silent(1)	p.F105F(1)	lung(1)	breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(313-315)ttC>ttT		olfactory receptor, family 1, subfamily L, member 4							156.0	143.0	147.0					9																	125486583		2203	4300	6503	SO:0001819	synonymous_variant	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486583C>T		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.315C>T	9.37:g.125486583C>T							p.F105F	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	315	+			105					Q6IFN0|Q96R81	Silent	SNP	ENST00000259466.1	37	c.315C>T	CCDS35129.1																																																																																				0.473	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			6	727	0	0	0	0.361761	0	6	727				
OBP2B	29989	broad.mit.edu	37	9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	rs1132279	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612													A|||	2	0.000399361	0.0008	0.0	5008	,	,		15717	0.001		0.0	False		,,,				2504	0.0					ENST00000372034.3																			2	Substitution - Missense(2)	p.S133P(2)	lung(1)|central_nervous_system(1)	central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(397-399)Tct>Cct		odorant binding protein 2B							79.0	74.0	76.0					9																	136081795		2203	4300	6503	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081795A>G	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.397T>C	9.37:g.136081795A>G	ENSP00000361104:p.Ser133Pro					OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	p.S133P	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	5	438	-			133					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.397T>C	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.130056	0.00338	.	.	ENSG00000171102	ENST00000372034	T	0.05855	3.38	2.38	-0.713	0.11223	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.411595	0.17841	N	0.160204	T	0.01029	0.0034	N	0.00215	-1.835	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44452	-0.9327	10	0.02654	T	1	-11.4445	5.2433	0.15483	0.4751:0.0:0.5249:0.0	rs1132279;rs3192931	133	Q9NPH6	OBP2B_HUMAN	P	133	ENSP00000361104:S133P	ENSP00000361104:S133P	S	-	1	0	OBP2B	135071616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.006000	0.13152	-0.185000	0.10550	-1.067000	0.02272	TCT		0.612	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		5	305	0	0	0	0.248553	0	5	305				
PSG7	5676	broad.mit.edu	37	19	43439887	43439887	+	RNA	SNP	T	T	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:43439887T>A	ENST00000406070.2	-	0	195				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TGACTTGGGCTGTGGTGGGCG	0.493																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							137.0	142.0	141.0					19																	43439887		2202	4300	6502			5676				female pregnancy	extracellular region		g.chr19:43439887T>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439887T>A						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	188	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.493	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		8	1262	0	0	0	0.361761	0	8	1262				
SIGLEC14	100049587	broad.mit.edu	37	19	52149092	52149092	+	Missense_Mutation	SNP	C	C	T	rs111981406	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:52149092C>T	ENST00000360844.6	-	3	684	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	215	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V215M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGCGTTTCACCTGACAGGTG	0.647													C|||	4	0.000798722	0.0	0.0	5008	,	,		10676	0.002		0.001	False		,,,				2504	0.001					ENST00000360844.6																			2	Substitution - Missense(2)	p.V215M(2)	central_nervous_system(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(643-645)Gtg>Atg		sialic acid binding Ig-like lectin 14							85.0	81.0	82.0					19																	52149092		2071	4198	6269	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52149092C>T	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.643G>A	19.37:g.52149092C>T	ENSP00000354090:p.Val215Met					SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron	p.V215M	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	3	684	-		all_neural(266;0.0299)	215			Ig-like C2-type 1.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.643G>A	CCDS42604.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	1	0.0013192612137203166	C	16.24	3.066375	0.55539	.	.	ENSG00000254415	ENST00000360844	D	0.89810	-2.57	3.1	3.1	0.35709	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.41396	D	0.000886	D	0.90628	0.7061	M	0.85859	2.78	0.19775	N	0.999952	D	0.64830	0.994	P	0.60345	0.873	D	0.83788	0.0229	10	0.66056	D	0.02	.	9.82	0.40876	0.0:1.0:0.0:0.0	.	215	Q08ET2	SIG14_HUMAN	M	215	ENSP00000354090:V215M	ENSP00000354090:V215M	V	-	1	0	SIGLEC14	56840904	0.048000	0.20356	0.215000	0.23724	0.789000	0.44602	1.698000	0.37794	1.755000	0.51935	0.514000	0.50259	GTG		0.647	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		7	384	0	0	0	0.335167	0	7	384				
ENTPD8	377841	broad.mit.edu	37	9	140331454	140331454	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:140331454T>C	ENST00000472938.1	-	4	438	c.422A>G	c.(421-423)gAc>gGc	p.D141G	ENTPD8_ENST00000371506.2_Missense_Mutation_p.D141G|ENTPD8_ENST00000344119.2_Missense_Mutation_p.D141G			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	141					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGCAAAGATGTCCCTGGCCTG	0.682																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(421-423)gAc>gGc		ectonucleoside triphosphate diphosphohydrolase 8							51.0	56.0	54.0					9																	140331454		2202	4298	6500	SO:0001583	missense	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140331454T>C	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.422A>G	9.37:g.140331454T>C	ENSP00000420531:p.Asp141Gly					ENTPD8_ENST00000344119.2_Missense_Mutation_p.D141G|ENTPD8_ENST00000472938.1_Missense_Mutation_p.D141G	p.D141G	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	5	605	-	all_cancers(76;0.0926)		141					A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.422A>G	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.941896	0.34283	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.12039	2.72;2.72;2.72	4.07	-2.28	0.06826	.	1.335750	0.04809	N	0.434870	T	0.11452	0.0279	L	0.49455	1.56	0.18873	N	0.999981	B;B	0.34399	0.452;0.005	B;B	0.29862	0.108;0.021	T	0.30650	-0.9971	10	0.38643	T	0.18	0.6553	4.5654	0.12184	0.0:0.2689:0.3092:0.4219	.	141;141	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	G	141	ENSP00000344089:D141G;ENSP00000360561:D141G;ENSP00000420531:D141G	ENSP00000344089:D141G	D	-	2	0	ENTPD8	139451275	0.000000	0.05858	0.033000	0.17914	0.596000	0.36781	0.070000	0.14573	-0.340000	0.08388	0.459000	0.35465	GAC		0.682	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		12	333	0	0	0	0.411799	0	12	333				
KRTAP4-4	84616	broad.mit.edu	37	17	39316759	39316759	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:39316759T>C	ENST00000390661.3	-	1	224	c.185A>G	c.(184-186)cAc>cGc	p.H62R		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	62	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13). {ECO:0000269|PubMed:11279113}.|Missing (in allele KAP4.4-v1).			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGTGGCAGCAGGT	0.662																																						ENST00000390661.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(184-186)cAc>cGc		keratin associated protein 4-4							39.0	48.0	45.0					17																	39316759		2200	4294	6494	SO:0001583	missense	84616					keratin filament		g.chr17:39316759T>C	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.185A>G	17.37:g.39316759T>C	ENSP00000375076:p.His62Arg						p.H62R	NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	224	-		Breast(137;0.000496)	62		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	c.185A>G	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	3.774	-0.047123	0.07407	.	.	ENSG00000171396	ENST00000390661	T	0.01203	5.18	5.19	-0.262	0.12958	.	0.000000	0.30101	N	0.010409	T	0.00210	0.0006	N	0.00010	-3.015	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46978	-0.9152	10	0.13108	T	0.6	.	4.2837	0.10844	0.153:0.4186:0.0:0.4284	.	62	Q9BYR3	KRA44_HUMAN	R	62	ENSP00000375076:H62R	ENSP00000375076:H62R	H	-	2	0	KRTAP4-4	36570285	0.000000	0.05858	0.243000	0.24186	0.582000	0.36321	-0.494000	0.06451	0.042000	0.15717	-0.142000	0.14014	CAC		0.662	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			9	641	0	0	0	0.435327	0	9	641				
KRTAP5-1	387264	broad.mit.edu	37	11	1605916	1605916	+	Silent	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:1605916A>G	ENST00000382171.2	-	1	597	c.564T>C	c.(562-564)ggT>ggC	p.G188G	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	188	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCACAAGAACCGCAGCCCC	0.677																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(562-564)ggT>ggC		keratin associated protein 5-1							39.0	52.0	47.0					11																	1605916		2202	4298	6500	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1605916A>G	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.564T>C	11.37:g.1605916A>G						KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	p.G188G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	597	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	188			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.564T>C	CCDS31330.1																																																																																				0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		7	439	0	0	0	0.457914	0	7	439				
POU4F2	5458	broad.mit.edu	37	4	147561030	147561030	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:147561030C>A	ENST00000281321.3	+	2	548	c.300C>A	c.(298-300)ttC>ttA	p.F100L	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	100					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCAATATATTCGGCGGGCTGG	0.612																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(298-300)ttC>ttA		POU class 4 homeobox 2							38.0	57.0	51.0					4																	147561030		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561030C>A	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.300C>A	4.37:g.147561030C>A	ENSP00000281321:p.Phe100Leu						p.F100L	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			2	548	+	all_hematologic(180;0.151)		100					B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.300C>A	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656967	0.67586	.	.	ENSG00000151615	ENST00000281321	T	0.20881	2.04	5.9	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.19451	-1.0305	10	0.59425	D	0.04	.	10.1163	0.42593	0.0:0.8456:0.0:0.1544	.	100	Q12837	PO4F2_HUMAN	L	100	ENSP00000281321:F100L	ENSP00000281321:F100L	F	+	3	2	POU4F2	147780480	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.989000	0.40707	1.489000	0.48450	0.563000	0.77884	TTC		0.612	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		5	346	1	0	0.0215528	0.217242	0.0219196	5	346				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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			4	185	0	0	0	0.248553	0	4	185				
GRM5	2915	broad.mit.edu	37	11	88780631	88780631	+	Missense_Mutation	SNP	A	A	G	rs72954992		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:88780631A>G	ENST00000305447.4	-	1	559	c.410T>C	c.(409-411)tTc>tCc	p.F137S	GRM5_ENST00000393294.3_Missense_Mutation_p.F137S|GRM5_ENST00000418177.2_Missense_Mutation_p.F137S|GRM5_ENST00000455756.2_Missense_Mutation_p.F137S|GRM5_ENST00000305432.5_Missense_Mutation_p.F137S|GRM5_ENST00000393297.1_Missense_Mutation_p.F137S	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	137					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CTTGGAGCGGAAGGAAGAGGA	0.502																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(409-411)tTc>tCc		glutamate receptor, metabotropic 5	Acamprosate(DB00659)																																			SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780631A>G	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.410T>C	11.37:g.88780631A>G	ENSP00000306138:p.Phe137Ser					GRM5_ENST00000305432.5_Missense_Mutation_p.F137S|GRM5_ENST00000305447.4_Missense_Mutation_p.F137S|GRM5_ENST00000393294.3_Missense_Mutation_p.F137S|GRM5_ENST00000393297.1_Missense_Mutation_p.F137S|GRM5_ENST00000455756.2_Missense_Mutation_p.F137S	p.F137S			P41594	GRM5_HUMAN			2	777	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	137					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.410T>C	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510476	0.27036	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.141460	0.64402	D	0.000005	T	0.69753	0.3146	N	0.03608	-0.345	0.38027	D	0.935059	B;B;B	0.11235	0.004;0.001;0.002	B;B;B	0.11329	0.002;0.001;0.006	T	0.66775	-0.5838	9	.	.	.	.	9.8808	0.41231	0.9236:0.0:0.0764:0.0	.	137;137;137	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	S	137	ENSP00000402912:F137S;ENSP00000405690:F137S;ENSP00000305905:F137S;ENSP00000306138:F137S;ENSP00000376975:F137S;ENSP00000376972:F137S	.	F	-	2	0	GRM5	88420279	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.086000	0.64474	2.033000	0.60031	0.460000	0.39030	TTC		0.502	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		5	367	0	0	0	0.278610	0	5	367				
ANKRD20A8P	729171	broad.mit.edu	37	2	95514963	95514963	+	RNA	SNP	G	G	A	rs114749649	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:95514963G>A	ENST00000432432.2	-	0	694				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		GCCTATCAACGGCATGTGTAC	0.328													.|||	2	0.000399361	0.0008	0.0	5008	,	,		21192	0.0		0.0	False		,,,				2504	0.001					ENST00000432432.2																			0																																																			0							g.chr2:95514963G>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95514963G>A								NR_040113.1						0	694	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.328	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			8	1030	0	0	0	0.654019	0	8	1030				
NSDHL	50814	broad.mit.edu	37	X	152031181	152031181	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:152031181C>T	ENST00000370274.3	+	5	650	c.456C>T	c.(454-456)ggC>ggT	p.G152G	NSDHL_ENST00000440023.1_Silent_p.G152G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	152					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)	p.G152G(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTTGAGGGCGTCGATATCA	0.413																																						ENST00000370274.3																			1	Substitution - coding silent(1)	p.G152G(1)	endometrium(1)	NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(454-456)ggC>ggT		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						159.0	138.0	145.0					X																	152031181		2203	4300	6503	SO:0001819	synonymous_variant	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152031181C>T	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.456C>T	X.37:g.152031181C>T						NSDHL_ENST00000440023.1_Silent_p.G152G	p.G152G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			5	650	+	Acute lymphoblastic leukemia(192;6.56e-05)		152					D3DWT6|O00344	Silent	SNP	ENST00000370274.3	37	c.456C>T	CCDS14717.1																																																																																				0.413	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		24	635	0	0	0	0.654019	0	24	635				
WHAMMP3	339005	broad.mit.edu	37	15	23205193	23205193	+	RNA	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:23205193A>G	ENST00000400153.2	-	0	661					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GGTGTCCTTGAATAACCTAGA	0.398																																						ENST00000400153.2																			0																																																			0							g.chr15:23205193A>G	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.23205193A>G								NR_003521.1						0	661	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.398	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		4	91	0	0	0	0.150653	0	4	91				
RFPL3	10738	broad.mit.edu	37	22	32754256	32754256	+	Silent	SNP	G	G	A	rs61729170	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:32754256G>A	ENST00000249007.4	+	1	403	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_Silent_p.S37S|RFPL3_ENST00000397468.1_Silent_p.S37S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	66							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCATCAATTCGCTGCAGAAGG	0.537																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(196-198)tcG>tcA		ret finger protein-like 3							121.0	114.0	117.0					22																	32754256		2203	4300	6503	SO:0001819	synonymous_variant	10738						zinc ion binding	g.chr22:32754256G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.198G>A	22.37:g.32754256G>A						RFPL3_ENST00000382088.3_Silent_p.S37S|RFPL3_ENST00000397468.1_Silent_p.S37S	p.S66S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			1	403	+			66					A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	c.198G>A	CCDS43011.1																																																																																				0.537	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		6	562	0	0	0	0.435327	0	6	562				
KAT6A	7994	broad.mit.edu	37	8	41800505	41800505	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr8:41800505G>A	ENST00000396930.3	-	15	2785	c.2242C>T	c.(2242-2244)Cgc>Tgc	p.R748C	KAT6A_ENST00000485568.1_Missense_Mutation_p.R748C|KAT6A_ENST00000265713.2_Missense_Mutation_p.R748C|KAT6A_ENST00000406337.1_Missense_Mutation_p.R748C	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	748	Catalytic.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTTTCCCGGCGGATAATCACA	0.423																																						ENST00000396930.3																			0											c.(2242-2244)Cgc>Tgc		K(lysine) acetyltransferase 6A							79.0	76.0	77.0					8																	41800505		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41800505G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2242C>T	8.37:g.41800505G>A	ENSP00000380136:p.Arg748Cys					KAT6A_ENST00000406337.1_Missense_Mutation_p.R748C|KAT6A_ENST00000265713.2_Missense_Mutation_p.R748C|KAT6A_ENST00000485568.1_Missense_Mutation_p.R748C	p.R748C	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			15	2785	-			748			Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.2242C>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768196	0.49680	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.84516	0.15;0.15;0.15;-1.86	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.89508	0.6735	L	0.35249	1.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	D	0.88927	0.3370	10	0.52906	T	0.07	-18.0878	20.5792	0.99380	0.0:0.0:1.0:0.0	.	748;748	A5PLL3;Q92794	.;KAT6A_HUMAN	C	748;748;748;328;748	ENSP00000265713:R748C;ENSP00000385888:R748C;ENSP00000380136:R748C;ENSP00000430606:R748C	ENSP00000265713:R748C	R	-	1	0	KAT6A	41919662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.239000	0.72356	2.873000	0.98535	0.561000	0.74099	CGC		0.423	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		19	376	0	0	0	0.592651	0	19	376				
UBN1	29855	broad.mit.edu	37	16	4924840	4924840	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:4924840G>A	ENST00000396658.4	+	14	3132	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D	UBN1_ENST00000262376.6_Missense_Mutation_p.G810D|UBN1_ENST00000590769.1_Missense_Mutation_p.G810D|UBN1_ENST00000545171.1_Missense_Mutation_p.G810D	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	810					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TTTCATGCCGGCACTCAGCAG	0.572																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2428-2430)gGc>gAc		ubinuclein 1							76.0	80.0	78.0					16																	4924840		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924840G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2429G>A	16.37:g.4924840G>A	ENSP00000379894:p.Gly810Asp					UBN1_ENST00000590769.1_Missense_Mutation_p.G810D|UBN1_ENST00000262376.6_Missense_Mutation_p.G810D|UBN1_ENST00000545171.1_Missense_Mutation_p.G810D	p.G810D	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			14	3132	+			810					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.2429G>A	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639246	0.67244	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.32753	1.44;1.44;1.44	5.28	5.28	0.74379	.	0.072533	0.56097	D	0.000032	T	0.38188	0.1031	N	0.24115	0.695	0.19300	N	0.99998	D;D	0.63046	0.992;0.972	P;P	0.58660	0.74;0.843	T	0.20840	-1.0263	10	0.52906	T	0.07	-13.9626	17.2731	0.87107	0.0:0.0:1.0:0.0	.	810;810	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	D	810	ENSP00000262376:G810D;ENSP00000442379:G810D;ENSP00000379894:G810D	ENSP00000262376:G810D	G	+	2	0	UBN1	4864841	0.988000	0.35896	0.981000	0.43875	0.776000	0.43924	4.750000	0.62162	2.758000	0.94735	0.563000	0.77884	GGC		0.572	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		7	836	0	0	0	0.278610	0	7	836				
NR3C2	4306	broad.mit.edu	37	4	149075982	149075982	+	Silent	SNP	T	T	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:149075982T>G	ENST00000358102.3	-	5	2447	c.2085A>C	c.(2083-2085)ccA>ccC	p.P695P	NR3C2_ENST00000344721.4_Silent_p.P695P|NR3C2_ENST00000511528.1_Silent_p.P699P|NR3C2_ENST00000355292.3_Silent_p.P699P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000512865.1_Intron|RP11-76G10.1_ENST00000514843.1_RNA	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	695	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggCTGCT	0.532																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2095-2097)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						8.0	11.0	10.0					4																	149075982		2171	4232	6403	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075982T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2085A>C	4.37:g.149075982T>G						NR3C2_ENST00000344721.4_Silent_p.P695P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Silent_p.P695P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000511528.1_Silent_p.P699P|NR3C2_ENST00000503313.1_5'UTR	p.P699P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2459	-	all_hematologic(180;0.151)		695			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2097A>C	CCDS3772.1																																																																																				0.532	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			8	74	0	0	0	0.520397	0	8	74				
LOC101927648	101927648	broad.mit.edu	37	1	143403563	143403563	+	lincRNA	SNP	C	C	A	rs376564211		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:143403563C>A	ENST00000423249.1	-	0	59																											TTTCTTTGGCCACTTTGGCTG	0.453																																						ENST00000423249.1																			0																																																			0							g.chr1:143403563C>A																													1.37:g.143403563C>A														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.453	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			8	125	1	0	3.99206e-14	0.557998	4.37661e-14	8	125				
GRM5	2915	broad.mit.edu	37	11	88780514	88780514	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:88780514C>A	ENST00000305447.4	-	1	676	c.527G>T	c.(526-528)aGc>aTc	p.S176I	GRM5_ENST00000393294.3_Missense_Mutation_p.S176I|GRM5_ENST00000418177.2_Missense_Mutation_p.S176I|GRM5_ENST00000455756.2_Missense_Mutation_p.S176I|GRM5_ENST00000305432.5_Missense_Mutation_p.S176I|GRM5_ENST00000393297.1_Missense_Mutation_p.S176I	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	176					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CAGATCCATGCTGGTTGCTGA	0.483																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(526-528)aGc>aTc		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						78.0	67.0	70.0					11																	88780514		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780514C>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.527G>T	11.37:g.88780514C>A	ENSP00000306138:p.Ser176Ile					GRM5_ENST00000305432.5_Missense_Mutation_p.S176I|GRM5_ENST00000305447.4_Missense_Mutation_p.S176I|GRM5_ENST00000393294.3_Missense_Mutation_p.S176I|GRM5_ENST00000393297.1_Missense_Mutation_p.S176I|GRM5_ENST00000455756.2_Missense_Mutation_p.S176I	p.S176I			P41594	GRM5_HUMAN			2	894	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	176					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.527G>T	CCDS44694.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.368843|4.368843	0.82463|0.82463	.|.	.|.	ENSG00000168959|ENSG00000168959	ENST00000449371|ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	.|D;D;D;D;D;D	.|0.88818	.|-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.4|5.4	5.4|5.4	0.78164|0.78164	.|GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95169|0.95169	0.8434|0.8434	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.996;1.0	D|D	0.95135|0.95135	0.8258|0.8258	5|9	.|.	.|.	.|.	.|.	19.1788|19.1788	0.93614|0.93614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|176;176;176	.|A8MT20;P41594-2;P41594	.|.;.;GRM5_HUMAN	S|I	9|176	.|ENSP00000402912:S176I;ENSP00000405690:S176I;ENSP00000305905:S176I;ENSP00000306138:S176I;ENSP00000376975:S176I;ENSP00000376972:S176I	.|.	A|S	-|-	1|2	0|0	GRM5|GRM5	88420162|88420162	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.687000|7.687000	0.84139|0.84139	2.514000|2.514000	0.84764|0.84764	0.563000|0.563000	0.77884|0.77884	GCA|AGC		0.483	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		6	398	1	0	0.0215528	0.217242	0.0219196	6	398				
TNRC6C	57690	broad.mit.edu	37	17	76046827	76046827	+	Missense_Mutation	SNP	G	G	A	rs200217894		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:76046827G>A	ENST00000588061.1	+	5	2411	c.1684G>A	c.(1684-1686)Gca>Aca	p.A562T	TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000335749.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	562	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGTGGGGCCGCAAATCAGGA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17135	0.0		0.0	False		,,,				2504	0.001					ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1684-1686)Gca>Aca		trinucleotide repeat containing 6C		G	THR/ALA,THR/ALA	0,4056		0,0,2028	53.0	59.0	57.0		1684,1684	3.8	0.6	17		57	1,8375		0,1,4187	no	missense,missense	TNRC6C	NM_001142640.1,NM_018996.3	58,58	0,1,6215	AA,AG,GG		0.0119,0.0,0.0080	benign,benign	562/1727,562/1691	76046827	1,12431	2028	4188	6216	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046827G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1684G>A	17.37:g.76046827G>A	ENSP00000468647:p.Ala562Thr					TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A562T	p.A562T	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2253	+			562			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.1684G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	6.103	0.387346	0.11581	0.0	1.19E-4	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14516	2.5;2.51;2.51;2.5	5.75	3.79	0.43588	.	0.922167	0.09205	N	0.834117	T	0.10680	0.0261	L	0.29908	0.895	0.26878	N	0.9676	B;B;B	0.13145	0.005;0.007;0.004	B;B;B	0.08055	0.002;0.003;0.001	T	0.38286	-0.9668	10	0.13108	T	0.6	0.8073	10.4778	0.44676	0.2076:0.0:0.7924:0.0	.	562;562;562	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	T	562	ENSP00000336783:A562T;ENSP00000301624:A562T;ENSP00000440310:A562T;ENSP00000442421:A562T	ENSP00000301624:A562T	A	+	1	0	TNRC6C	73558422	0.864000	0.29904	0.557000	0.28306	0.995000	0.86356	3.175000	0.50855	0.800000	0.34041	0.655000	0.94253	GCA		0.582	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		5	542	0	0	0	0.184627	0	5	542				
CTSG	1511	broad.mit.edu	37	14	25043976	25043976	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:25043976G>A	ENST00000216336.2	-	3	280	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	82	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTGTTTTCCCGTCTCTGGATA	0.532																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(244-246)Cgg>Tgg		cathepsin G							179.0	150.0	159.0					14																	25043976		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043976G>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.244C>T	14.37:g.25043976G>A	ENSP00000216336:p.Arg82Trp						p.R82W	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	280	-			82			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.244C>T	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323852	0.60634	.	.	ENSG00000100448	ENST00000216336	D	0.89270	-2.49	5.14	-0.234	0.13074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.162600	0.03040	N	0.153196	D	0.90082	0.6902	L	0.42686	1.345	0.09310	N	1	D	0.53462	0.96	P	0.57324	0.818	T	0.77091	-0.2716	10	0.72032	D	0.01	.	6.4544	0.21922	0.1768:0.4321:0.3911:0.0	.	82	P08311	CATG_HUMAN	W	82	ENSP00000216336:R82W	ENSP00000216336:R82W	R	-	1	2	CTSG	24113816	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.555000	0.05999	-0.140000	0.11394	0.655000	0.94253	CGG		0.532	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		16	491	0	0	0	0.539581	0	16	491				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				10	74	0	0	0	0.387290	0	10	74				
HERC2	8924	broad.mit.edu	37	15	28370291	28370291	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:28370291C>T	ENST00000261609.7	-	84	12959	c.12851G>A	c.(12850-12852)gGa>gAa	p.G4284E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATTGGTGGTTCCGTCTCCCAG	0.532																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12850-12852)gGa>gAa		HECT and RLD domain containing E3 ubiquitin protein ligase 2							234.0	211.0	219.0					15																	28370291		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28370291C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12851G>A	15.37:g.28370291C>T	ENSP00000261609:p.Gly4284Glu						p.G4284E	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	84	12959	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4284						Missense_Mutation	SNP	ENST00000261609.7	37	c.12851G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116754	0.94385	.	.	ENSG00000128731	ENST00000261609	D	0.84589	-1.87	5.19	5.19	0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94249	0.7492	10	0.87932	D	0	.	18.7201	0.91689	0.0:1.0:0.0:0.0	.	4284	O95714	HERC2_HUMAN	E	4284	ENSP00000261609:G4284E	ENSP00000261609:G4284E	G	-	2	0	HERC2	26043886	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.808000	0.86044	2.408000	0.81797	0.655000	0.94253	GGA		0.532	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		32	1054	0	0	0	0.693898	0	32	1054				
LDHC	3948	broad.mit.edu	37	11	18467784	18467784	+	Silent	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:18467784G>T	ENST00000541669.1	+	7	849	c.738G>T	c.(736-738)ggG>ggT	p.G246G	LDHC_ENST00000536880.1_Silent_p.G232G|LDHC_ENST00000280704.4_Silent_p.G246G|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000544105.1_Intron|LDHC_ENST00000546146.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	246					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCTGAAGGGGTATACCTCTT	0.378																																						ENST00000541669.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(736-738)ggG>ggT		lactate dehydrogenase C	NADH(DB00157)						178.0	176.0	177.0					11																	18467784		2199	4293	6492	SO:0001819	synonymous_variant	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18467784G>T	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.738G>T	11.37:g.18467784G>T						LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000544105.1_Intron|LDHC_ENST00000280704.4_Silent_p.G246G|LDHC_ENST00000536880.1_Silent_p.G232G|LDHC_ENST00000546146.1_Intron	p.G246G			P07864	LDHC_HUMAN			7	849	+			246					D3DQY4|Q6GSG8|Q7Z7J4	Silent	SNP	ENST00000541669.1	37	c.738G>T	CCDS7840.1																																																																																				0.378	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		25	678	1	0	2.41591e-17	0.681144	2.67316e-17	25	678				
STAT3	6774	broad.mit.edu	37	17	40498723	40498723	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:40498723G>A	ENST00000264657.5	-	3	449	c.137C>T	c.(136-138)gCg>gTg	p.A46V	STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000585517.1_Missense_Mutation_p.A46V|STAT3_ENST00000588969.1_Missense_Mutation_p.A46V|STAT3_ENST00000404395.3_Missense_Mutation_p.A46V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	46					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A46V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTTGCTGGCCGCATATGCCCT	0.433									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			2	Substitution - Missense(2)	p.A46V(2)	large_intestine(1)|prostate(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(136-138)gCg>gTg		signal transducer and activator of transcription 3 (acute-phase response factor)							158.0	158.0	158.0					17																	40498723		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40498723G>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.137C>T	17.37:g.40498723G>A	ENSP00000264657:p.Ala46Val					STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000404395.3_Missense_Mutation_p.A46V|STAT3_ENST00000585517.1_Missense_Mutation_p.A46V|STAT3_ENST00000588969.1_Missense_Mutation_p.A46V	p.A46V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	3	449	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	46					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.137C>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848324	0.91277	.	.	ENSG00000168610	ENST00000264657;ENST00000404395	T;T	0.51325	0.71;0.71	5.66	5.66	0.87406	STAT transcription factor, protein interaction (4);	0.219698	0.46758	D	0.000267	T	0.57577	0.2063	L	0.42632	1.34	0.80722	D	1	D;D;D	0.60160	0.987;0.981;0.981	P;P;P	0.56865	0.785;0.808;0.808	T	0.47156	-0.9139	10	0.30078	T	0.28	-22.3549	20.1041	0.97884	0.0:0.0:1.0:0.0	.	46;46;46	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	V	46	ENSP00000264657:A46V;ENSP00000384943:A46V	ENSP00000264657:A46V	A	-	2	0	STAT3	37752249	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	7.774000	0.85478	2.826000	0.97356	0.655000	0.94253	GCG		0.433	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		7	1127	0	0	0	0.217242	0	7	1127				
APEH	327	broad.mit.edu	37	3	49723596	49723596	+	IGR	SNP	G	G	A	rs200900272		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:49723596G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.P349L|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank	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			6	167	0	0	0	0.520397	0	6	167				
LPHN3	23284	broad.mit.edu	37	4	62812695	62812695	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:62812695C>T	ENST00000514591.1	+	15	2608	c.2279C>T	c.(2278-2280)gCc>gTc	p.A760V	LPHN3_ENST00000506720.1_Missense_Mutation_p.A828V|LPHN3_ENST00000514996.1_Missense_Mutation_p.A760V|LPHN3_ENST00000509896.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506746.1_Missense_Mutation_p.A828V|LPHN3_ENST00000511324.1_Missense_Mutation_p.A828V|LPHN3_ENST00000545650.1_Missense_Mutation_p.A760V|LPHN3_ENST00000514157.1_Missense_Mutation_p.A760V|LPHN3_ENST00000508946.1_Missense_Mutation_p.A760V|LPHN3_ENST00000507164.1_Missense_Mutation_p.A828V|LPHN3_ENST00000508693.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506700.1_Missense_Mutation_p.A760V|LPHN3_ENST00000507625.1_Missense_Mutation_p.A828V|LPHN3_ENST00000512091.2_Missense_Mutation_p.A760V|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000504896.1_Missense_Mutation_p.A760V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	747					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.A760V(3)|p.A760G(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACGGAGAATGCCAGTATGAAG	0.403																																						ENST00000512091.1																			4	Substitution - Missense(4)	p.A760V(3)|p.A760G(1)	prostate(3)|lung(1)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2278-2280)gCc>gTc		latrophilin 3							261.0	245.0	250.0					4																	62812695		1885	4119	6004	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62812695C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2279C>T	4.37:g.62812695C>T	ENSP00000422533:p.Ala760Val					LPHN3_ENST00000508946.1_Missense_Mutation_p.A760V|LPHN3_ENST00000545650.1_Missense_Mutation_p.A760V|LPHN3_ENST00000514996.1_Missense_Mutation_p.A760V|LPHN3_ENST00000506700.1_Missense_Mutation_p.A760V|LPHN3_ENST00000514591.1_Missense_Mutation_p.A760V|LPHN3_ENST00000504896.1_Missense_Mutation_p.A760V|LPHN3_ENST00000514157.1_Missense_Mutation_p.A760V|LPHN3_ENST00000507164.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506746.1_Missense_Mutation_p.A828V|LPHN3_ENST00000507625.1_Missense_Mutation_p.A828V|LPHN3_ENST00000511324.1_Missense_Mutation_p.A828V|LPHN3_ENST00000509896.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506720.1_Missense_Mutation_p.A828V|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000508693.1_Missense_Mutation_p.A828V	p.A760V			Q9HAR2	LPHN3_HUMAN			15	3026	+			747					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2279C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409129	0.96072	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75	5.51	5.51	0.81932	Domain of unknown function DUF3497 (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.65975	2.015	0.80722	D	1	D;D;D	0.56746	0.977;0.977;0.972	P;P;P	0.59703	0.862;0.862;0.616	T	0.00849	-1.1541	10	0.66056	D	0.02	.	19.4278	0.94751	0.0:1.0:0.0:0.0	.	760;747;760	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	V	760;760;828;828;760;760;747;760;828;828;828;760;760;760;828;828;760	ENSP00000423388:A760V;ENSP00000422533:A760V;ENSP00000423787:A828V;ENSP00000425033:A828V;ENSP00000424120:A760V;ENSP00000439831:A760V;ENSP00000421476:A828V;ENSP00000424030:A828V;ENSP00000421372:A828V;ENSP00000425201:A760V;ENSP00000423434:A760V;ENSP00000421627:A760V;ENSP00000420931:A828V;ENSP00000425884:A828V;ENSP00000424258:A760V	ENSP00000280009:A760V	A	+	2	0	LPHN3	62495290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.595000	0.87683	0.557000	0.71058	GCC		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			7	1257	0	0	0	0.248553	0	7	1257				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		8	965	0	0	0	0.307466	0	8	965				
TGM5	9333	broad.mit.edu	37	15	43527883	43527883	+	Nonsense_Mutation	SNP	G	G	A	rs144532387		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:43527883G>A	ENST00000220420.5	-	10	1505	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	TGM5_ENST00000349114.4_Nonsense_Mutation_p.R418*	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	500					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCACTGGGTCGAAGGGAAGGT	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21348	0.0		0.0	False		,,,				2504	0.0					ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(1498-1500)Cga>Tga		transglutaminase 5	L-Glutamine(DB00130)	G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	103.0	108.0		1252,1498	5.6	0.0	15	dbSNP_134	108	1,8597	1.2+/-3.3	0,1,4298	yes	stop-gained,stop-gained	TGM5	NM_004245.3,NM_201631.3	,	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	,	418/639,500/721	43527883	2,13002	2203	4299	6502	SO:0001587	stop_gained	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43527883G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1498C>T	15.37:g.43527883G>A	ENSP00000220420:p.Arg500*					TGM5_ENST00000349114.4_Nonsense_Mutation_p.R418*	p.R500*	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	10	1505	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	500					O43549|Q0VF40|Q9UEZ4	Nonsense_Mutation	SNP	ENST00000220420.5	37	c.1498C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771567	0.90108	2.27E-4	1.16E-4	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	.	.	.	5.58	5.58	0.84498	.	1.990680	0.02559	N	0.096485	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-0.2829	15.0606	0.71951	0.0:0.0:1.0:0.0	.	.	.	.	X	500;418;499	.	ENSP00000220420:R500X	R	-	1	2	TGM5	41315175	0.001000	0.12720	0.032000	0.17829	0.207000	0.24258	0.862000	0.27899	2.631000	0.89168	0.655000	0.94253	CGA		0.562	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		12	278	0	0	0	0.387290	0	12	278				
TCEAL3	85012	broad.mit.edu	37	X	102864204	102864204	+	Missense_Mutation	SNP	G	G	A	rs374490781		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:102864204G>A	ENST00000372628.1	+	3	570	c.212G>A	c.(211-213)aGg>aAg	p.R71K	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.R71K|TCEAL3_ENST00000243286.3_Missense_Mutation_p.R71K			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	71	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R71K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAGCAGGGCAGGTCCGAAGGT	0.622																																						ENST00000372628.1																			1	Substitution - Missense(1)	p.R71K(1)	large_intestine(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						c.(211-213)aGg>aAg		transcription elongation factor A (SII)-like 3							145.0	115.0	125.0					X																	102864204		2203	4300	6503	SO:0001583	missense	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864204G>A	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.212G>A	X.37:g.102864204G>A	ENSP00000361711:p.Arg71Lys					TCEAL3_ENST00000243286.3_Missense_Mutation_p.R71K|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.R71K	p.R71K			Q969E4	TCAL3_HUMAN			3	570	+			71			Glu-rich.		D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	c.212G>A	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	G	0.539	-0.854668	0.02630	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.15834	2.39;2.39;2.39	3.81	2.63	0.31362	.	0.639125	0.12947	N	0.426153	T	0.02380	0.0073	N	0.00094	-2.165	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41197	-0.9522	10	0.02654	T	1	.	5.1568	0.15038	0.8655:0.0:0.1345:0.0	.	71	Q969E4	TCAL3_HUMAN	K	71	ENSP00000361711:R71K;ENSP00000361710:R71K;ENSP00000243286:R71K	ENSP00000243286:R71K	R	+	2	0	TCEAL3	102750860	0.801000	0.28930	0.066000	0.19879	0.005000	0.04900	1.150000	0.31639	0.659000	0.30945	-0.383000	0.06682	AGG		0.622	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		7	1037	0	0	0	0.278610	0	7	1037				
RNF123	63891	broad.mit.edu	37	3	49724639	49724639	+	5'Flank	SNP	A	A	G	rs41291704		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:49724639A>G	ENST00000327697.6	+	0	0				MST1_ENST00000449682.2_Missense_Mutation_p.Y184H|MST1_ENST00000545762.1_Silent_p.A131A|MST1_ENST00000383728.3_Missense_Mutation_p.Y109H|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'UTR|RNF123_ENST00000432042.1_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCTGTTGTGTAGCACCAAGGA	0.627																																						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.(550-552)Tac>Cac		macrophage stimulating 1 (hepatocyte growth factor-like)							37.0	38.0	38.0					3																	49724639		2202	4300	6502	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724639A>G	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724639A>G	Exception_encountered					MST1_ENST00000545762.1_Silent_p.A131A|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.Y109H	p.Y184H	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)	5	911	-			170			Kringle 1.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.550T>C	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.916533	0.92249	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.73681	-0.77;-0.77	6.08	6.08	0.98989	Kringle (4);Kringle-like fold (1);	0.000000	0.38436	N	0.001682	D	0.87047	0.6080	M	0.81341	2.54	0.80722	D	1	D;P;P	0.89917	1.0;0.926;0.667	D;P;P	0.97110	1.0;0.852;0.66	D	0.88267	0.2927	10	0.66056	D	0.02	.	16.6512	0.85203	1.0:0.0:0.0:0.0	rs41291704	170;170;184	B7Z538;P26927;G3XAK1	.;HGFL_HUMAN;.	H	184;109	ENSP00000414287:Y184H;ENSP00000373234:Y109H	ENSP00000373234:Y109H	Y	-	1	0	MST1	49699643	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.332000	0.96446	2.333000	0.79357	0.482000	0.46254	TAC		0.627	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		5	283	0	0	0	0.184627	0	5	283				
COPS4	51138	broad.mit.edu	37	4	83978424	83978424	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:83978424G>A	ENST00000264389.2	+	6	713	c.578G>A	c.(577-579)cGt>cAt	p.R193H	COPS4_ENST00000509093.1_Missense_Mutation_p.R193H|COPS4_ENST00000511653.1_Missense_Mutation_p.R193H|COPS4_ENST00000503682.1_Missense_Mutation_p.R193H	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	193					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TGCTATGCACGTGTTCTTGAT	0.338																																						ENST00000509093.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13						c.(577-579)cGt>cAt		COP9 signalosome subunit 4							69.0	67.0	68.0					4																	83978424		2203	4300	6503	SO:0001583	missense	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83978424G>A	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.578G>A	4.37:g.83978424G>A	ENSP00000264389:p.Arg193His					COPS4_ENST00000503682.1_Missense_Mutation_p.R193H|COPS4_ENST00000264389.2_Missense_Mutation_p.R193H|COPS4_ENST00000511653.1_Missense_Mutation_p.R193H	p.R193H	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN			6	1356	+		Hepatocellular(203;0.114)	193					B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	ENST00000264389.2	37	c.578G>A	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672433	0.88348	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T;T	0.57107	0.47;0.59;0.65;0.42;0.55	5.57	4.73	0.59995	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;P;D;D	0.79784	0.991;0.721;0.981;0.993	T	0.79200	-0.1901	10	0.66056	D	0.02	-7.0725	14.2998	0.66339	0.0714:0.0:0.9286:0.0	.	193;193;193;193	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	H	193;193;81;193;193	ENSP00000425976:R193H;ENSP00000264389:R193H;ENSP00000425486:R81H;ENSP00000424791:R193H;ENSP00000424655:R193H	ENSP00000264389:R193H	R	+	2	0	COPS4	84197448	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.370000	0.97159	1.355000	0.45865	0.467000	0.42956	CGT		0.338	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1			9	346	0	0	0	0.335167	0	9	346				
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522																																						ENST00000564451.1																			1	Substitution - coding silent(1)	p.T398T(1)	kidney(1)																																																0							g.chr16:90162462A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162462A>G						TUBB8P7_ENST00000567960.1_RNA								0	1815	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	720	0	0	0	0.335167	0	8	720				
KRTAP5-1	387264	broad.mit.edu	37	11	1605919	1605919	+	Silent	SNP	G	G	A	rs148721177	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:1605919G>A	ENST00000382171.2	-	1	594	c.561C>T	c.(559-561)tgC>tgT	p.C187C	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	187	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAAGAACCGCAGCCCCCCT	0.672																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(559-561)tgC>tgT		keratin associated protein 5-1							38.0	51.0	46.0					11																	1605919		2202	4298	6500	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1605919G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.561C>T	11.37:g.1605919G>A						KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	p.C187C	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	594	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	187			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.561C>T	CCDS31330.1																																																																																				0.672	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		9	451	0	0	0	0.717897	0	9	451				
TUBB8P7	197331	broad.mit.edu	37	16	90161609	90161609	+	RNA	SNP	A	A	G	rs371305733		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:90161609A>G	ENST00000564451.1	+	0	962				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGATGGAGTCAGTGATGGACG	0.617																																						ENST00000564451.1																			0																																																			0							g.chr16:90161609A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161609A>G						TUBB8P7_ENST00000567960.1_RNA								0	962	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.617	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	146	0	0	0	0.479597	0	5	146				
KRTAP5-4	387267	broad.mit.edu	37	11	1642985	1642985	+	Silent	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:1642985G>A	ENST00000399682.1	-	1	383	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCCCCACAGGAGCCACAGC	0.667																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(337-339)tcC>tcT		keratin associated protein 5-4							8.0	18.0	15.0					11																	1642985		664	1522	2186	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1642985G>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.339C>T	11.37:g.1642985G>A							p.S113S	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	383	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	113			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.339C>T																																																																																					0.667	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		17	732	0	0	0	0.717897	0	17	732				
HIST1H2BJ	8970	broad.mit.edu	37	6	27100369	27100369	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:27100369C>T	ENST00000607124.1	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.G54D|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.G54D|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GGACGAAATGCCGGTGTCAGG	0.547																																						ENST00000607124.1																			2	Substitution - Missense(2)	p.G54D(2)	prostate(1)|kidney(1)	breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(160-162)gGc>gAc		histone cluster 1, H2bj							207.0	196.0	200.0					6																	27100369		2203	4300	6503	SO:0001583	missense	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100369C>T	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.161G>A	6.37:g.27100369C>T	ENSP00000476136:p.Gly54Asp					HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.G54D|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.G54D	p.G54D			P06899	H2B1J_HUMAN			1	160	-			54					B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	c.161G>A	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377785	0.61735	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.69435	-0.4;-0.4	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.83133	0.5188	M	0.93150	3.385	0.58432	D	0.999999	D	0.71674	0.998	D	0.72075	0.976	D	0.87687	0.2551	9	0.87932	D	0	.	14.8046	0.69942	0.0:1.0:0.0:0.0	.	54	P06899	H2B1J_HUMAN	D	54	ENSP00000445633:G54D;ENSP00000342886:G54D	ENSP00000342886:G54D	G	-	2	0	HIST1H2BJ	27208348	1.000000	0.71417	0.993000	0.49108	0.074000	0.17049	4.245000	0.58734	2.273000	0.75805	0.591000	0.81541	GGC		0.547	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		10	1460	0	0	0	0.217242	0	10	1460				
FOXP2	93986	broad.mit.edu	37	7	114270018	114270018	+	Silent	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:114270018G>A	ENST00000393494.2	+	5	834	c.555G>A	c.(553-555)caG>caA	p.Q185Q	FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000393500.3_Silent_p.Q110Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q			O15409	FOXP2_HUMAN	forkhead box P2	185	Gln-rich.				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.Q210Q(2)		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						agcagcaacagcagcagcagc	0.502																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	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.(328-330)caG>caA		forkhead box P2							48.0	44.0	45.0					7																	114270018		2197	4288	6485	SO:0001819	synonymous_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.chr7:114270018G>A	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.555G>A	7.37:g.114270018G>A						FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q	p.Q110Q			O15409	FOXP2_HUMAN			11	1150	+			185			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.330G>A	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	360	0	0	0	0.278610	0	7	360				
CCR3	1232	broad.mit.edu	37	3	46307531	46307531	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:46307531C>T	ENST00000357422.2	+	4	1425	c.882C>T	c.(880-882)tgC>tgT	p.C294C	CCR3_ENST00000395940.2_Silent_p.C294C|CCR3_ENST00000395942.2_Silent_p.C294C|CCR3_ENST00000541018.1_Silent_p.C294C|CCR3_ENST00000545097.1_Silent_p.C315C			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	294					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ACTCCCACTGCTGCATGAACC	0.527																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(880-882)tgC>tgT		chemokine (C-C motif) receptor 3							120.0	100.0	107.0					3																	46307531		2203	4300	6503	SO:0001819	synonymous_variant	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307531C>T	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.882C>T	3.37:g.46307531C>T						CCR3_ENST00000541018.1_Silent_p.C294C|CCR3_ENST00000545097.1_Silent_p.C315C|CCR3_ENST00000395940.2_Silent_p.C294C|CCR3_ENST00000395942.2_Silent_p.C294C	p.C294C			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	1425	+			294					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Silent	SNP	ENST00000357422.2	37	c.882C>T	CCDS2738.1																																																																																				0.527	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			5	365	0	0	0	0.184627	0	5	365				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N			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		8	576	0	0	0	0.557998	0	8	576				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			10	294	0	0	0	0.387290	0	10	294				
PRG4	10216	broad.mit.edu	37	1	186276588	186276588	+	Silent	SNP	T	T	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:186276588T>C	ENST00000445192.2	+	7	1782	c.1737T>C	c.(1735-1737)acT>acC	p.T579T	PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367483.4_Silent_p.T538T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T486T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	579	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T579T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCCCCAACTACCCCCAAGG	0.647																																						ENST00000445192.2																			1	Substitution - coding silent(1)	p.T579T(1)	endometrium(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1735-1737)acT>acC		proteoglycan 4							88.0	91.0	90.0					1																	186276588		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276588T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1737T>C	1.37:g.186276588T>C						PRG4_ENST00000367485.4_Silent_p.T486T|PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T538T	p.T579T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1782	+			579			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1737T>C	CCDS1369.1																																																																																				0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		39	756	0	0	0	0.870114	0	39	756				
STXBP5	134957	broad.mit.edu	37	6	147703993	147703993	+	Silent	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:147703993A>G	ENST00000321680.6	+	27	3273	c.3273A>G	c.(3271-3273)aaA>aaG	p.K1091K	STXBP5_ENST00000179882.6_Silent_p.K746K|STXBP5_ENST00000367481.3_Silent_p.K1055K|STXBP5_ENST00000367480.3_Silent_p.K1038K	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1091	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AAGGCGTAAAAGGGGCAGCAT	0.502																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(3163-3165)aaA>aaG		syntaxin binding protein 5 (tomosyn)							156.0	151.0	153.0					6																	147703993		2203	4300	6503	SO:0001819	synonymous_variant	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147703993A>G	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.3273A>G	6.37:g.147703993A>G						STXBP5_ENST00000367480.3_Silent_p.K1038K|STXBP5_ENST00000179882.6_Silent_p.K746K|STXBP5_ENST00000321680.6_Silent_p.K1091K	p.K1055K	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	25	3273	+		Ovarian(120;0.0164)	1091					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.3165A>G	CCDS47499.1																																																																																				0.502	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			6	910	0	0	0	0.217242	0	6	910				
DNAH5	1767	broad.mit.edu	37	5	13793653	13793653	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:13793653G>T	ENST00000265104.4	-	49	8299	c.8195C>A	c.(8194-8196)cCc>cAc	p.P2732H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2732	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTTCAGAGGGCAACGTGCA	0.468									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(8194-8196)cCc>cAc		dynein, axonemal, heavy chain 5							132.0	135.0	134.0					5																	13793653		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13793653G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8195C>A	5.37:g.13793653G>T	ENSP00000265104:p.Pro2732His						p.P2732H	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			49	8299	-	Lung NSC(4;0.00476)		2732			AAA 3 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.8195C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075499	0.76415	.	.	ENSG00000039139	ENST00000265104	T	0.53857	0.6	5.88	5.88	0.94601	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91639	0.5325	10	0.87932	D	0	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	2732	Q8TE73	DYH5_HUMAN	H	2732	ENSP00000265104:P2732H	ENSP00000265104:P2732H	P	-	2	0	DNAH5	13846653	1.000000	0.71417	0.981000	0.43875	0.472000	0.32918	9.694000	0.98686	2.792000	0.96026	0.557000	0.71058	CCC		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		15	548	1	0	4.7546e-09	0.500413	5.09574e-09	15	548				
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478																																						ENST00000568624.1																			0																																																			0							g.chr15:28599954A>G																													15.37:g.28599954A>G														0	452	-									RNA	SNP	ENST00000568624.1	37																																																																																						0.478	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			7	473	0	0	0	0.248553	0	7	473				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		16	164	0	0	0	0.500413	0	16	164				
RHOA	387	broad.mit.edu	37	3	49405942	49405942	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:49405942A>T	ENST00000418115.1	-	3	580	c.196T>A	c.(196-198)Tat>Aat	p.Y66N	RHOA-IT1_ENST00000428083.1_RNA|RHOA_ENST00000422781.1_Missense_Mutation_p.Y66N|RHOA_ENST00000454011.2_Intron	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	66					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGGCGATCATAATCTTCCTGC	0.493																																						ENST00000418115.1																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(196-198)Tat>Aat		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						122.0	117.0	119.0					3																	49405942		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49405942A>T	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.196T>A	3.37:g.49405942A>T	ENSP00000400175:p.Tyr66Asn					RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.Y66N	p.Y66N	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	580	-			66					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.196T>A	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.889072	0.91814	.	.	ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425	D;D;D	0.81579	-1.51;-1.51;-1.51	5.78	5.78	0.91487	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.92970	3.365	0.80722	D	1	P	0.40398	0.716	P	0.60012	0.867	D	0.93013	0.6433	10	0.87932	D	0	.	14.9619	0.71164	1.0:0.0:0.0:0.0	.	66	P61586	RHOA_HUMAN	N	66	ENSP00000400175:Y66N;ENSP00000413587:Y66N;ENSP00000408402:Y66N	ENSP00000400175:Y66N	Y	-	1	0	RHOA	49380946	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.163000	0.94750	2.219000	0.72066	0.450000	0.29827	TAT		0.493	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		33	607	0	0	0	0.750413	0	33	607				
OR52A1	23538	broad.mit.edu	37	11	5173196	5173196	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:5173196G>A	ENST00000380367.1	-	2	821	c.404C>T	c.(403-405)gCc>gTc	p.A135V	OR52A1_ENST00000328942.1_Missense_Mutation_p.A135V			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	135					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGATGTTGGCATGTCTTAG	0.498																																						ENST00000380367.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(403-405)gCc>gTc		olfactory receptor, family 52, subfamily A, member 1							101.0	85.0	90.0					11																	5173196		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5173196G>A	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.404C>T	11.37:g.5173196G>A	ENSP00000369725:p.Ala135Val					OR52A1_ENST00000328942.1_Missense_Mutation_p.A135V	p.A135V			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	821	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	135					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.404C>T	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919421	0.33908	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00411	7.53;7.53	5.28	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.674735	0.13640	N	0.373031	T	0.00496	0.0016	M	0.68952	2.095	0.09310	N	1	P	0.42161	0.772	B	0.38842	0.283	T	0.49862	-0.8894	10	0.87932	D	0	.	14.4598	0.67440	0.0:0.3045:0.6955:0.0	.	135	Q9UKL2	O52A1_HUMAN	V	135	ENSP00000369725:A135V;ENSP00000333684:A135V	ENSP00000333684:A135V	A	-	2	0	OR52A1	5129772	0.000000	0.05858	0.022000	0.16811	0.311000	0.27955	0.180000	0.16860	0.765000	0.33221	0.591000	0.81541	GCC		0.498	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		11	259	0	0	0	0.387290	0	11	259				
PLXNB3	5365	broad.mit.edu	37	X	153036952	153036952	+	Missense_Mutation	SNP	G	G	A	rs141109198		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:153036952G>A	ENST00000361971.5	+	14	2473	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D440N|PLXNB3_ENST00000538966.1_Missense_Mutation_p.D810N|PLXNB3_ENST00000538282.1_Missense_Mutation_p.D397N	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	787	PSI 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GATCCTGTACGACTGCGCCAT	0.672																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(2428-2430)Gac>Aac		plexin B3		G	ASN/ASP,ASN/ASP	0,3820		0,0,0,1630,560	38.0	36.0	37.0		2428,2359	5.1	1.0	X	dbSNP_134	37	2,6718		0,1,1,2425,1867	no	missense,missense	PLXNB3	NM_001163257.1,NM_005393.2	23,23	0,1,1,4055,2427	AA,AG,A,GG,G		0.0298,0.0,0.019	benign,benign	810/1933,787/1910	153036952	2,10538	2190	4294	6484	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153036952G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2359G>A	X.37:g.153036952G>A	ENSP00000355378:p.Asp787Asn					PLXNB3_ENST00000361971.5_Missense_Mutation_p.D787N|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D440N|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.D397N	p.D810N	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			15	2699	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		787					B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.2428G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127716	0.20959	0.0	2.98E-4	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.65549	5.37;5.34;4.75;-0.16	5.11	5.11	0.69529	.	0.049715	0.85682	D	0.000000	T	0.36853	0.0982	N	0.21373	0.66	0.44261	D	0.997117	B;P;B;B	0.36249	0.008;0.545;0.024;0.003	B;B;B;B	0.28849	0.004;0.095;0.02;0.003	T	0.41893	-0.9483	10	0.02654	T	1	.	8.7349	0.34523	0.1051:0.0:0.8949:0.0	.	440;469;810;787	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	N	810;787;440;397	ENSP00000442736:D810N;ENSP00000355378:D787N;ENSP00000445569:D440N;ENSP00000441919:D397N	ENSP00000355378:D787N	D	+	1	0	PLXNB3	152690146	0.213000	0.23551	0.985000	0.45067	0.052000	0.14988	1.359000	0.34113	2.111000	0.64477	0.529000	0.55759	GAC		0.672	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			12	252	0	0	0	0.411799	0	12	252				
AHNAK	79026	broad.mit.edu	37	11	62296070	62296070	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:62296070A>G	ENST00000378024.4	-	5	6093	c.5819T>C	c.(5818-5820)gTg>gCg	p.V1940A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1940					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACACATCCACATCCCCTTT	0.502																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5818-5820)gTg>gCg		AHNAK nucleoprotein							212.0	223.0	219.0					11																	62296070		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296070A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5819T>C	11.37:g.62296070A>G	ENSP00000367263:p.Val1940Ala					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.V1940A	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6093	-		Melanoma(852;0.155)	1940					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5819T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	4.561	0.104230	0.08731	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.01347	4.99	2.29	0.902	0.19290	.	.	.	.	.	T	0.03651	0.0104	M	0.91663	3.23	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21861	-1.0233	9	0.46703	T	0.11	.	7.4842	0.27423	0.8688:0.0:0.1312:0.0	.	1940	Q09666	AHNK_HUMAN	A	29;1940	ENSP00000367263:V1940A	ENSP00000244934:V29A	V	-	2	0	AHNAK	62052646	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.071000	0.14594	-0.202000	0.10268	-2.704000	0.00135	GTG		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		12	1977	0	0	0	0.248553	0	12	1977				
FAM86EP	348926	broad.mit.edu	37	4	3954855	3954855	+	RNA	SNP	G	G	T	rs545005986	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:3954855G>T	ENST00000313946.8	-	0	137				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AAAATATCCCGCCGCAGCTCA	0.493																																						ENST00000281228.8																			0																																																			0							g.chr4:3954855G>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3954855G>T						FAM86EP_ENST00000313946.8_RNA								0	143	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.493	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			6	354	1	0	5.68852e-11	0.307466	6.20802e-11	6	354				
BOD1L1	259282	broad.mit.edu	37	4	13604934	13604934	+	Missense_Mutation	SNP	G	G	A	rs543366380	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:13604934G>A	ENST00000040738.5	-	10	3725	c.3590C>T	c.(3589-3591)gCc>gTc	p.A1197V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1197						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTATGATCGGCATGCTTTTC	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		18841	0.0		0.0	False		,,,				2504	0.002					ENST00000040738.5																			0											c.(3589-3591)gCc>gTc		biorientation of chromosomes in cell division 1-like 1							158.0	165.0	163.0					4																	13604934		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604934G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3590C>T	4.37:g.13604934G>A	ENSP00000040738:p.Ala1197Val						p.A1197V	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	3725	-			1197					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.3590C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.151148	0.01700	.	.	ENSG00000038219	ENST00000040738	T	0.06528	3.29	5.54	1.31	0.21738	.	0.957388	0.08619	N	0.918700	T	0.06781	0.0173	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42068	-0.9473	10	0.29301	T	0.29	-0.096	5.5925	0.17309	0.2751:0.1489:0.576:0.0	.	1197	Q8NFC6	BOD1L_HUMAN	V	1197	ENSP00000040738:A1197V	ENSP00000040738:A1197V	A	-	2	0	BOD1L	13214032	0.000000	0.05858	0.019000	0.16419	0.000000	0.00434	0.533000	0.23082	0.296000	0.22592	-0.812000	0.03155	GCC		0.423	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		7	1107	0	0	0	0.307466	0	7	1107				
DNMT3B	1789	broad.mit.edu	37	20	31385055	31385055	+	Silent	SNP	G	G	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:31385055G>C	ENST00000328111.2	+	14	1761	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V	DNMT3B_ENST00000348286.2_Silent_p.V460V|DNMT3B_ENST00000353855.2_Silent_p.V460V|DNMT3B_ENST00000344505.4_Silent_p.V460V|DNMT3B_ENST00000443239.3_Silent_p.V418V|DNMT3B_ENST00000456297.2_Silent_p.V384V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Silent_p.V472V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	480	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|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)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTGCACTGTGTGCTGCGAGG	0.582																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1438-1440)gtG>gtC		DNA (cytosine-5-)-methyltransferase 3 beta							103.0	103.0	103.0					20																	31385055		2203	4300	6503	SO:0001819	synonymous_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31385055G>C		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1440G>C	20.37:g.31385055G>C						DNMT3B_ENST00000353855.2_Silent_p.V460V|DNMT3B_ENST00000344505.4_Silent_p.V460V|DNMT3B_ENST00000201963.3_Silent_p.V472V|DNMT3B_ENST00000348286.2_Silent_p.V460V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000456297.2_Silent_p.V384V|DNMT3B_ENST00000443239.3_Silent_p.V418V	p.V480V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			14	1761	+			480			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	c.1440G>C	CCDS13205.1																																																																																				0.582	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		62	728	0	0	0	0.870114	0	62	728				
TGOLN2	10618	broad.mit.edu	37	2	85554675	85554675	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:85554675C>T	ENST00000409232.3	-	2	241	c.180G>A	c.(178-180)ccG>ccA	p.P60P	TGOLN2_ENST00000444342.2_Silent_p.P60P|TGOLN2_ENST00000377386.3_Silent_p.P60P|TGOLN2_ENST00000409015.1_Silent_p.P60P|TGOLN2_ENST00000282120.2_Silent_p.P60P|TGOLN2_ENST00000398263.2_Silent_p.P60P			O43493	TGON2_HUMAN	trans-golgi network protein 2	60	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TTGGAGTCTGCGGCTCCGGAT	0.597																																						ENST00000377386.3																			0											c.(178-180)ccG>ccA		trans-golgi network protein 2							94.0	97.0	96.0					2																	85554675		1964	4147	6111	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554675C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.180G>A	2.37:g.85554675C>T						TGOLN2_ENST00000409232.3_Silent_p.P60P|TGOLN2_ENST00000444342.2_Silent_p.P60P|TGOLN2_ENST00000409015.1_Silent_p.P60P|TGOLN2_ENST00000398263.2_Silent_p.P60P|TGOLN2_ENST00000282120.2_Silent_p.P60P	p.P60P			O43493	TGON2_HUMAN			2	642	-			60			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.180G>A	CCDS56126.1																																																																																				0.597	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		7	1127	0	0	0	0.217242	0	7	1127				
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371958.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38.0	34.0	36.0					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		7	372	0	0	0	0.248553	0	7	372				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			5	610	0	0	0	0.278610	0	5	610				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		7	382	0	0	0	0.278610	0	7	382				
HEATR1	55127	broad.mit.edu	37	1	236739626	236739626	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:236739626G>A	ENST00000366582.3	-	22	3091	c.2977C>T	c.(2977-2979)Cat>Tat	p.H993Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.H993Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	993					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTTCTGATGAGATTTCAGT	0.318																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2977-2979)Cat>Tat		HEAT repeat containing 1							133.0	141.0	139.0					1																	236739626		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236739626G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2977C>T	1.37:g.236739626G>A	ENSP00000355541:p.His993Tyr					HEATR1_ENST00000366581.2_Missense_Mutation_p.H993Y	p.H993Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		22	3091	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	993					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2977C>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	2.336	-0.352148	0.05173	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66099	-0.17;-0.19	5.33	3.46	0.39613	Armadillo-type fold (2);	0.584047	0.17920	N	0.157540	T	0.44138	0.1279	L	0.31294	0.92	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27226	-1.0080	10	0.02654	T	1	.	11.691	0.51516	0.1441:0.0:0.8559:0.0	.	993;993	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	Y	993	ENSP00000355541:H993Y;ENSP00000355540:H993Y	ENSP00000355540:H993Y	H	-	1	0	HEATR1	234806249	1.000000	0.71417	0.983000	0.44433	0.946000	0.59487	2.700000	0.47085	0.646000	0.30693	0.460000	0.39030	CAT		0.318	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		24	700	0	0	0	0.654019	0	24	700				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		11	353	0	0	0	0.361761	0	11	353				
NCOA6	23054	broad.mit.edu	37	20	33345723	33345723	+	Silent	SNP	C	C	T	rs546356291	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:33345723C>T	ENST00000374796.2	-	8	3398	c.828G>A	c.(826-828)caG>caA	p.Q276Q	NCOA6_ENST00000359003.2_Silent_p.Q276Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-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						gctgttgttgctgctgctgct	0.537													C|||	3	0.000599042	0.0	0.0	5008	,	,		18338	0.002		0.0	False		,,,				2504	0.001					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.(826-828)caG>caA		nuclear receptor coactivator 6							93.0	71.0	78.0					20																	33345723		2203	4300	6503	SO:0001819	synonymous_variant	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.chr20:33345723C>T	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.828G>A	20.37:g.33345723C>T						NCOA6_ENST00000359003.2_Silent_p.Q276Q	p.Q276Q			Q14686	NCOA6_HUMAN			8	3398	-			276			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.828G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	324	0	0	0	0.217242	0	5	324				
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T	rs374392843		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	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)	p.A526A(1)		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)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	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.(1576-1578)gcG>gcT									62.0	68.0	66.0					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>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.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		7	848	1	0	9.70103e-10	0.361761	1.05388e-09	7	848				
DRD5	1816	broad.mit.edu	37	4	9784853	9784853	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:9784853C>G	ENST00000304374.2	+	1	1596	c.1200C>G	c.(1198-1200)atC>atG	p.I400M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	400					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)	p.I400M(2)		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)	ACCAAGACATCGTCTTCCACA	0.592																																						ENST00000304374.2																			2	Substitution - Missense(2)	p.I400M(2)	endometrium(1)|kidney(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(1198-1200)atC>atG		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						97.0	78.0	84.0					4																	9784853		2203	4300	6503	SO:0001583	missense	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.chr4:9784853C>G	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.1200C>G	4.37:g.9784853C>G	ENSP00000306129:p.Ile400Met						p.I400M	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	1596	+			400					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1200C>G	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	2.136	-0.397995	0.04865	.	.	ENSG00000169676	ENST00000304374	T	0.65364	-0.15	4.73	-9.46	0.00597	.	0.191884	0.44688	D	0.000429	T	0.27098	0.0664	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.04650	-1.0936	10	0.33141	T	0.24	.	5.418	0.16384	0.1584:0.2933:0.4256:0.1227	.	400	P21918	DRD5_HUMAN	M	400	ENSP00000306129:I400M	ENSP00000306129:I400M	I	+	3	3	DRD5	9393951	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-2.589000	0.00900	-1.894000	0.01105	-1.614000	0.00798	ATC		0.592	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			5	374	0	0	0	0.575678	0	5	374				
DNM1P47	100216544	broad.mit.edu	37	15	102292797	102292797	+	RNA	SNP	C	C	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:102292797C>G	ENST00000561463.1	+	0	843									DNM1 pseudogene 47									p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597																																						ENST00000561463.1																			2	Substitution - Missense(2)	p.P129A(2)	urinary_tract(1)|lung(1)																																																0							g.chr15:102292797C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292797C>G														0	843	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	246	0	0	0	0.335167	0	7	246				
IFI44	10561	broad.mit.edu	37	1	79128422	79128422	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:79128422C>G	ENST00000370747.4	+	8	1232	c.1147C>G	c.(1147-1149)Ctt>Gtt	p.L383V	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	383					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGGATTTGCTCTTTCTGACAT	0.368																																						ENST00000370747.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1147-1149)Ctt>Gtt		interferon-induced protein 44							123.0	111.0	115.0					1																	79128422		2203	4300	6503	SO:0001583	missense	10561				response to virus	cytoplasm		g.chr1:79128422C>G	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.1147C>G	1.37:g.79128422C>G	ENSP00000359783:p.Leu383Val					IFI44_ENST00000495254.1_3'UTR	p.L383V	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN			8	1232	+			383					B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	c.1147C>G	CCDS688.1	.	.	.	.	.	.	.	.	.	.	C	3.724	-0.056868	0.07362	.	.	ENSG00000137965	ENST00000370747	T	0.08458	3.09	3.79	0.729	0.18266	.	0.232813	0.26457	N	0.024265	T	0.01489	0.0048	L	0.39633	1.23	0.80722	D	1	B	0.33266	0.404	B	0.27715	0.082	T	0.47497	-0.9113	10	0.13108	T	0.6	-4.7103	3.4522	0.07502	0.0:0.4573:0.1987:0.344	.	383	Q8TCB0	IFI44_HUMAN	V	383	ENSP00000359783:L383V	ENSP00000359783:L383V	L	+	1	0	IFI44	78901010	0.907000	0.30839	0.079000	0.20413	0.941000	0.58515	0.126000	0.15769	0.153000	0.19213	0.514000	0.50259	CTT		0.368	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		13	350	0	0	0	0.479597	0	13	350				
FOXP2	93986	broad.mit.edu	37	7	114270015	114270015	+	Silent	SNP	A	A	G	rs146945410	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:114270015A>G	ENST00000393494.2	+	5	831	c.552A>G	c.(550-552)caA>caG	p.Q184Q	FOXP2_ENST00000393489.3_Silent_p.Q92Q|FOXP2_ENST00000360232.4_Silent_p.Q184Q|FOXP2_ENST00000403559.4_Silent_p.Q201Q|FOXP2_ENST00000350908.4_Silent_p.Q184Q|FOXP2_ENST00000393498.2_Silent_p.Q164Q|FOXP2_ENST00000408937.3_Silent_p.Q209Q|FOXP2_ENST00000393500.3_Silent_p.Q109Q|FOXP2_ENST00000393491.3_Silent_p.Q92Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q184Q|FOXP2_ENST00000390668.3_Silent_p.Q208Q			O15409	FOXP2_HUMAN	forkhead box P2	184	Gln-rich.				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)			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						agcagcagcaacagcagcagc	0.502													A|||	2	0.000399361	0.0	0.0	5008	,	,		15840	0.001		0.001	False		,,,				2504	0.0					ENST00000393500.3																			0				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.(325-327)caA>caG		forkhead box P2		A	,,,,,	5,4383		0,5,2189	47.0	43.0	45.0		552,627,552,627,552,603	-2.6	0.9	7	dbSNP_134	45	13,8553		0,13,4270	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FOXP2	NM_001172766.2,NM_001172767.2,NM_014491.3,NM_148898.3,NM_148899.3,NM_148900.3	,,,,,	0,18,6459	GG,GA,AA		0.1518,0.1139,0.139	,,,,,	184/715,209/458,184/716,209/741,184/433,201/733	114270015	18,12936	2194	4283	6477	SO:0001819	synonymous_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.chr7:114270015A>G	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.552A>G	7.37:g.114270015A>G						FOXP2_ENST00000393491.3_Silent_p.Q92Q|FOXP2_ENST00000393494.2_Silent_p.Q184Q|FOXP2_ENST00000393498.2_Silent_p.Q164Q|FOXP2_ENST00000378237.3_Silent_p.Q184Q|FOXP2_ENST00000350908.4_Silent_p.Q184Q|FOXP2_ENST00000403559.4_Silent_p.Q201Q|FOXP2_ENST00000390668.3_Silent_p.Q208Q|FOXP2_ENST00000360232.4_Silent_p.Q184Q|FOXP2_ENST00000393489.3_Silent_p.Q92Q|FOXP2_ENST00000408937.3_Silent_p.Q209Q	p.Q109Q			O15409	FOXP2_HUMAN			11	1147	+			184			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.327A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	358	0	0	0	0.217242	0	5	358				
KCNA1	3736	broad.mit.edu	37	12	5021286	5021286	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:5021286G>A	ENST00000382545.3	+	2	1849	c.742G>A	c.(742-744)Gac>Aac	p.D248N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	248					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CAGCAAGACGGACTTCTTCAA	0.493																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(742-744)Gac>Aac		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						85.0	80.0	82.0					12																	5021286		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021286G>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.742G>A	12.37:g.5021286G>A	ENSP00000371985:p.Asp248Asn					KCNA1_ENST00000543874.2_Intron	p.D248N	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1849	+			248					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.742G>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538245	0.27475	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.97256	-4.31	4.97	4.97	0.65823	Ion transport (1);	0.124139	0.56097	D	0.000038	D	0.94059	0.8096	L	0.31664	0.95	0.41605	D	0.988877	B	0.16603	0.018	B	0.25759	0.063	D	0.90746	0.4653	10	0.19590	T	0.45	.	17.7728	0.88497	0.0:0.0:1.0:0.0	.	248	Q09470	KCNA1_HUMAN	N	248	ENSP00000371985:D248N	ENSP00000228858:D248N	D	+	1	0	KCNA1	4891547	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.661000	0.83786	2.735000	0.93741	0.655000	0.94253	GAC		0.493	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		17	512	0	0	0	0.520397	0	17	512				
TLE3	7090	broad.mit.edu	37	15	70346894	70346894	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:70346894G>T	ENST00000558939.1	-	16	3095	c.1718C>A	c.(1717-1719)aCg>aAg	p.T573K	TLE3_ENST00000442299.2_Missense_Mutation_p.T565K|TLE3_ENST00000559048.1_Missense_Mutation_p.T573K|TLE3_ENST00000557997.1_Missense_Mutation_p.T565K|TLE3_ENST00000539550.1_Missense_Mutation_p.T500K|TLE3_ENST00000560939.1_Missense_Mutation_p.T575K|TLE3_ENST00000557907.1_Missense_Mutation_p.T565K|TLE3_ENST00000451782.2_Missense_Mutation_p.T570K|TLE3_ENST00000558379.1_Missense_Mutation_p.T568K|TLE3_ENST00000317509.8_Missense_Mutation_p.T561K|TLE3_ENST00000440567.3_Missense_Mutation_p.T563K|TLE3_ENST00000560589.1_Missense_Mutation_p.T517K|TLE3_ENST00000558201.1_Missense_Mutation_p.T579K|TLE3_ENST00000559929.1_Missense_Mutation_p.T583K|TLE3_ENST00000559191.1_Missense_Mutation_p.T154K	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	573					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCCGAGGACGTCAGCTCGGC	0.662																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1717-1719)aCg>aAg		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							37.0	42.0	41.0					15																	70346894		2192	4297	6489	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70346894G>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1718C>A	15.37:g.70346894G>T	ENSP00000452871:p.Thr573Lys					TLE3_ENST00000442299.2_Missense_Mutation_p.T565K|TLE3_ENST00000560939.1_Missense_Mutation_p.T575K|TLE3_ENST00000559048.1_Missense_Mutation_p.T573K|TLE3_ENST00000559929.1_Missense_Mutation_p.T583K|TLE3_ENST00000440567.3_Missense_Mutation_p.T563K|TLE3_ENST00000560589.1_Missense_Mutation_p.T517K|TLE3_ENST00000451782.2_Missense_Mutation_p.T570K|TLE3_ENST00000557997.1_Missense_Mutation_p.T565K|TLE3_ENST00000558201.1_Missense_Mutation_p.T579K|TLE3_ENST00000557907.1_Missense_Mutation_p.T565K|TLE3_ENST00000539550.1_Missense_Mutation_p.T500K|TLE3_ENST00000317509.8_Missense_Mutation_p.T561K|TLE3_ENST00000559191.1_Missense_Mutation_p.T154K|TLE3_ENST00000558379.1_Missense_Mutation_p.T568K	p.T573K			Q04726	TLE3_HUMAN			16	3095	-			573					B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.1718C>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098445	0.94197	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.83	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.996;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D;D;P	0.74348	0.983;0.96;0.937;0.977;0.971;0.977;0.957;0.908	T	0.68209	-0.5469	10	0.49607	T	0.09	-5.6579	17.7019	0.88298	0.0:0.0:1.0:0.0	.	563;570;565;568;561;573;573;500	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	K	565;570;573;563;500	ENSP00000390007:T565K;ENSP00000394717:T570K;ENSP00000415057:T563K;ENSP00000442594:T500K	ENSP00000319233:T573K	T	-	2	0	TLE3	68133948	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	9.530000	0.98051	2.515000	0.84797	0.462000	0.41574	ACG		0.662	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		13	228	1	0	2.27111e-07	0.411799	2.39117e-07	13	228				
DDX11	1663	broad.mit.edu	37	12	31256819	31256819	+	Missense_Mutation	SNP	C	C	G	rs368042207		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:31256819C>G	ENST00000407793.2	+	27	3016	c.2765C>G	c.(2764-2766)cCg>cGg	p.P922R	DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.P922R|DDX11_ENST00000542838.1_3'UTR|DDX11_ENST00000228264.6_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	922					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTGTCCTGCCCGCTGGAGACA	0.607										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(2764-2766)cCg>cGg		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							70.0	72.0	71.0					12																	31256819		2203	4300	6503	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31256819C>G	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2765C>G	12.37:g.31256819C>G	ENSP00000384703:p.Pro922Arg	Multiple Myeloma(12;0.14)				DDX11_ENST00000545668.1_Missense_Mutation_p.P922R|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000228264.6_3'UTR	p.P922R	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			27	3016	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		922					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.2765C>G	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	3.745	-0.052757	0.07362	.	.	ENSG00000013573	ENST00000407793;ENST00000545668	T;T	0.73152	-0.72;-0.72	1.32	0.398	0.16319	.	.	.	.	.	T	0.44435	0.1293	N	0.08118	0	0.09310	N	0.999997	B	0.29232	0.238	B	0.27608	0.081	T	0.30416	-0.9979	9	0.41790	T	0.15	.	3.8887	0.09110	0.0:0.756:0.0:0.244	.	922	Q96FC9	DDX11_HUMAN	R	922	ENSP00000384703:P922R;ENSP00000440402:P922R	ENSP00000384703:P922R	P	+	2	0	DDX11	31148086	0.000000	0.05858	0.010000	0.14722	0.007000	0.05969	-0.158000	0.10070	0.136000	0.18733	-1.250000	0.01514	CCG		0.607	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		13	354	0	0	0	0.435327	0	13	354				
RHOA	387	broad.mit.edu	37	3	49395482	49395482	+	IGR	SNP	G	G	C	rs201944086	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:49395482G>C	ENST00000418115.1	-	0	2031				GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000419783.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGGTTGCACGGGAAGCCGAG	0.726																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(229-231)cCg>cGg		glutathione peroxidase 1	Glutathione(DB00143)						11.0	14.0	13.0					3																	49395482		1848	4061	5909	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395482G>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395482G>C						GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	p.P77R	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	551	-			77					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.230C>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745728	0.96882	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.68483	0.958;0.891	T	0.72279	-0.4340	10	0.87932	D	0	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	77;77	E9PAS1;P07203	.;GPX1_HUMAN	R	77	ENSP00000407375:P77R;ENSP00000391316:P77R	ENSP00000391316:P77R	P	-	2	0	GPX1	49370486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.875000	0.87205	2.788000	0.95919	0.555000	0.69702	CCG		0.726	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		4	124	0	0	0	0.307466	0	4	124				
SYT9	143425	broad.mit.edu	37	11	7334873	7334873	+	Missense_Mutation	SNP	G	G	A	rs374567594		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:7334873G>A	ENST00000318881.6	+	3	982	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	SYT9_ENST00000396716.2_Missense_Mutation_p.A217T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.A249T(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAATTTGCCCGCCAAGGACTT	0.408																																						ENST00000318881.6																			1	Substitution - Missense(1)	p.A249T(1)	pancreas(1)	NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(745-747)Gcc>Acc		synaptotagmin IX		G	THR/ALA	0,4402		0,0,2201	112.0	113.0	112.0		745	5.9	1.0	11		112	1,8591	1.2+/-3.3	0,1,4295	no	missense	SYT9	NM_175733.3	58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	249/492	7334873	1,12993	2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334873G>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.745G>A	11.37:g.7334873G>A	ENSP00000324419:p.Ala249Thr					SYT9_ENST00000396716.2_Missense_Mutation_p.A217T	p.A249T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	982	+			249			C2 1.			Missense_Mutation	SNP	ENST00000318881.6	37	c.745G>A	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000779	0.93227	0.0	1.16E-4	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.70282	-0.47;-0.47	5.87	5.87	0.94306	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.64402	D	0.000001	T	0.82176	0.4980	M	0.75085	2.285	0.80722	D	1	D	0.60575	0.988	P	0.58331	0.837	D	0.83373	0.0008	10	0.87932	D	0	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	249	Q86SS6	SYT9_HUMAN	T	217;249	ENSP00000379944:A217T;ENSP00000324419:A249T	ENSP00000324419:A249T	A	+	1	0	SYT9	7291449	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GCC		0.408	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		5	759	0	0	0	0.184627	0	5	759				
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:4619828A>C	ENST00000269260.2	+	5	515	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000572457.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	94					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(280-282)ccA>ccC		arrestin, beta 2							30.0	25.0	26.0					17																	4619828		2203	4298	6501	SO:0001819	synonymous_variant	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619828A>C		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.282A>C	17.37:g.4619828A>C						ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR	p.P94P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			5	515	+			94					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	37	c.282A>C	CCDS11050.1																																																																																				0.667	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		17	120	0	0	0	0.654019	0	17	120				
SDHAP1	255812	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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			8	304	1	0	3.27435e-08	0.457914	3.49362e-08	8	304				
UBB	7314	broad.mit.edu	37	17	16285497	16285497	+	Silent	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.E92E|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.E92E	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			2	Substitution - coding silent(2)	p.E92E(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(274-276)gaA>gaG		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285497A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G						UBB_ENST00000395837.1_Silent_p.E92E|UBB_ENST00000395839.1_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron	p.E92E	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	668	+			92			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.276A>G	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		6	646	0	0	0	0.248553	0	6	646				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		8	81	0	0	0	0.361761	0	8	81				
ABCA3	21	broad.mit.edu	37	16	2347809	2347809	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:2347809C>G	ENST00000301732.5	-	16	2710	c.2010G>C	c.(2008-2010)agG>agC	p.R670S	ABCA3_ENST00000382381.3_Missense_Mutation_p.R612S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	670	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGAGCTTGCGCCTCATGCCCC	0.632																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2008-2010)agG>agC		ATP-binding cassette, sub-family A (ABC1), member 3							92.0	83.0	86.0					16																	2347809		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347809C>G	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2010G>C	16.37:g.2347809C>G	ENSP00000301732:p.Arg670Ser					ABCA3_ENST00000382381.3_Missense_Mutation_p.R612S	p.R670S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			16	2710	-		Ovarian(90;0.17)	670			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.2010G>C	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958616	0.53400	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D;T	0.94723	-3.5;-0.88	5.55	4.54	0.55810	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.393893	0.30510	N	0.009465	D	0.93200	0.7834	M	0.71581	2.175	0.80722	D	1	B;P;B	0.36183	0.033;0.542;0.033	B;B;B	0.38225	0.155;0.268;0.063	D	0.92912	0.6348	10	0.87932	D	0	.	11.1369	0.48378	0.0:0.9051:0.0:0.0949	.	670;674;670	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	S	670;674	ENSP00000301732:R670S;ENSP00000371818:R674S	ENSP00000301732:R670S	R	-	3	2	ABCA3	2287810	1.000000	0.71417	0.999000	0.59377	0.498000	0.33706	1.310000	0.33551	2.894000	0.99253	0.655000	0.94253	AGG		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		7	598	0	0	0	0.335167	0	7	598				
LOC101927079	101927079	broad.mit.edu	37	15	22332442	22332442	+	RNA	SNP	C	C	T	rs575019353	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:22332442C>T	ENST00000558896.1	+	0	249																											CGTGACAGAACTTGTTCTTCT	0.353													.|||	16	0.00319489	0.0038	0.0014	5008	,	,		29766	0.0		0.005	False		,,,				2504	0.0051					ENST00000558896.1																			0																																																			0							g.chr15:22332442C>T																													15.37:g.22332442C>T														0	249	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.353	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			13	607	0	0	0	0.435327	0	13	607				
DNM1P47	100216544	broad.mit.edu	37	15	102292832	102292832	+	RNA	SNP	G	G	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:102292832G>C	ENST00000561463.1	+	0	878									DNM1 pseudogene 47																		GAAGACACTCGTGGAGGCGTC	0.597																																						ENST00000561463.1																			0																																																			0							g.chr15:102292832G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292832G>C														0	878	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	164	0	0	0	0.457914	0	7	164				
FTHL17	53940	broad.mit.edu	37	X	31089614	31089614	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:31089614C>T	ENST00000359202.3	-	1	556	c.457G>A	c.(457-459)Gtg>Atg	p.V153M		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	153	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGGTTGCTCACGTAGCCACCC	0.617																																						ENST00000359202.3																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(457-459)Gtg>Atg		ferritin, heavy polypeptide-like 17							68.0	59.0	62.0					X																	31089614		2202	4300	6502	SO:0001583	missense	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089614C>T	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.457G>A	X.37:g.31089614C>T	ENSP00000368207:p.Val153Met						p.V153M	NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN			1	556	-			153			Ferritin-like diiron.		Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	c.457G>A	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565741	0.27915	.	.	ENSG00000132446	ENST00000359202	T	0.65549	-0.16	3.95	-7.89	0.01174	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.813860	0.11045	N	0.605645	T	0.63307	0.2500	M	0.75777	2.31	0.20489	N	0.999899	D	0.67145	0.996	P	0.52109	0.69	T	0.73445	-0.3980	10	0.62326	D	0.03	.	7.1071	0.25370	0.0696:0.0807:0.4098:0.4399	.	153	Q9BXU8	FHL17_HUMAN	M	153	ENSP00000368207:V153M	ENSP00000368207:V153M	V	-	1	0	FTHL17	30999535	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.299000	0.00133	-5.197000	0.00019	-0.337000	0.08149	GTG		0.617	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		19	450	0	0	0	0.592651	0	19	450				
KRTAP10-1	386677	broad.mit.edu	37	21	45959752	45959752	+	Silent	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr21:45959752G>A	ENST00000400375.1	-	1	326	c.282C>T	c.(280-282)ccC>ccT	p.P94P	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	94	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						cctgctggcagggggaggagg	0.662																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(280-282)ccC>ccT		keratin associated protein 10-1							41.0	47.0	45.0					21																	45959752		2190	4281	6471	SO:0001819	synonymous_variant	386677					keratin filament		g.chr21:45959752G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.282C>T	21.37:g.45959752G>A						TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.P94P	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	326	-			94			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Silent	SNP	ENST00000400375.1	37	c.282C>T	CCDS42954.1																																																																																				0.662	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			10	877	0	0	0	0.184627	0	10	877				
FREM1	158326	broad.mit.edu	37	9	14842569	14842569	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:14842569C>T	ENST00000380880.3	-	9	2266	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M	FREM1_ENST00000422223.2_Missense_Mutation_p.V495M|FREM1_ENST00000380881.4_Missense_Mutation_p.V496M			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	495					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.V496L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CGGAAGACCACGAAGTCTTTG	0.517																																						ENST00000380881.4																			1	Substitution - Missense(1)	p.V496L(1)	ovary(1)	breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1486-1488)Gtg>Atg		FRAS1 related extracellular matrix 1							123.0	126.0	125.0					9																	14842569		2042	4192	6234	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14842569C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1483G>A	9.37:g.14842569C>T	ENSP00000370262:p.Val495Met					FREM1_ENST00000380880.3_Missense_Mutation_p.V495M|FREM1_ENST00000422223.2_Missense_Mutation_p.V495M	p.V496M			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	10	2301	-			495					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1486G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549879	0.65311	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.46063	0.88;0.88;0.88	5.63	2.76	0.32466	.	0.122894	0.56097	D	0.000034	T	0.53142	0.1778	M	0.66939	2.045	0.39628	D	0.970137	D	0.76494	0.999	D	0.63957	0.92	T	0.54846	-0.8232	10	0.62326	D	0.03	-13.2093	5.4312	0.16454	0.0:0.5833:0.1427:0.274	.	495	Q5H8C1	FREM1_HUMAN	M	496;495;495	ENSP00000370263:V496M;ENSP00000412940:V495M;ENSP00000370262:V495M	ENSP00000370257:V498M	V	-	1	0	FREM1	14832569	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	1.080000	0.30779	0.847000	0.35167	0.655000	0.94253	GTG		0.517	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		20	578	0	0	0	0.575678	0	20	578				
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368392.3_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000343256.5_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892					cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|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)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL																																	ENST00000368395.1				Dom	yes		1	1q21	4582	T	"""mucin 1, transmembrane"""			L	IGH@		B-NHL		0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10						c.(334-336)Acc>Ccc		mucin 1, cell surface associated																																				SO:0001583	missense	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155161799T>G	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.334A>C	1.37:g.155161799T>G	ENSP00000357380:p.Thr112Pro					MUC1_ENST00000338684.5_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368390.3_Intron	p.T112P	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	405	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		892					A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Missense_Mutation	SNP	ENST00000368395.1	37	c.334A>C	CCDS55640.1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808546	0.16467	.	.	ENSG00000185499	ENST00000368395;ENST00000425082	T	0.20200	2.09	2.73	0.35	0.16037	.	2.188600	0.02617	N	0.102742	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	0.999999	D	0.65815	0.995	D	0.68483	0.958	T	0.17684	-1.0361	10	0.39692	T	0.17	.	3.1844	0.06596	0.0:0.2782:0.2183:0.5034	.	112	P15941	MUC1_HUMAN	P	112	ENSP00000357380:T112P	ENSP00000357380:T112P	T	-	1	0	MUC1	153428423	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.417000	0.07088	0.027000	0.15297	-1.038000	0.02383	ACC		0.711	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	NM_002456		21	90	0	0	0	0.819951	0	21	90				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			5	90	0	0	0	0.184627	0	5	90				
HLA-DQA2	3118	broad.mit.edu	37	6	32709266	32709266	+	Missense_Mutation	SNP	G	G	A	rs201984640	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:32709266G>A	ENST00000374940.3	+	1	148	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	16					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CGCCCTGACTGCCGTGATGAG	0.502													G|||	14	0.00279553	0.0053	0.0014	5008	,	,		16908	0.004		0.0	False		,,,				2504	0.002					ENST00000374940.3																			0				endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(46-48)Gcc>Acc		major histocompatibility complex, class II, DQ alpha 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						81.0	75.0	77.0					6																	32709266		2203	4300	6503	SO:0001583	missense	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32709266G>A		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.46G>A	6.37:g.32709266G>A	ENSP00000364076:p.Ala16Thr						p.A16T	NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN			1	148	+			16					A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	c.46G>A	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.419835	0.00188	.	.	ENSG00000237541	ENST00000374940	T	0.01685	4.69	3.06	1.84	0.25277	.	1.134200	0.06861	N	0.799035	T	0.00178	0.0005	N	0.00405	-1.535	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39099	-0.9630	10	0.02654	T	1	.	5.0347	0.14428	0.8511:0.0:0.1489:0.0	.	16	P01906	DQA2_HUMAN	T	16	ENSP00000364076:A16T	ENSP00000364076:A16T	A	+	1	0	HLA-DQA2	32817244	0.000000	0.05858	0.121000	0.21740	0.014000	0.08584	0.004000	0.13106	0.380000	0.24823	-1.197000	0.01672	GCC		0.502	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		7	174	0	0	0	0.411799	0	7	174				
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412.0	337.0	362.0					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		15	2471	0	0	0	0.278610	0	15	2471				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				10	73	1	0	2.80697e-09	0.387290	3.02192e-09	10	73				
KIAA0100	9703	broad.mit.edu	37	17	26961608	26961608	+	Silent	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P|KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region (GO:0005576)		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493																																						ENST00000528896.2																			1	Substitution - coding silent(1)	p.P999P(1)	prostate(1)	breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(2995-2997)ccT>ccC		KIAA0100							110.0	106.0	107.0					17																	26961608		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26961608A>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2997T>C	17.37:g.26961608A>G						KIAA0100_ENST00000389003.3_Silent_p.P856P|KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA	p.P999P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			16	3071	-	Lung NSC(42;0.00431)		999					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.2997T>C	CCDS32595.1																																																																																				0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		6	759	0	0	0	0.248553	0	6	759				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			0							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		13	1748	0	0	0	0.184627	0	13	1748				
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCTTCGTAAAGTGGATGATT	0.423																																						ENST00000436258.1																			0																																																			0							g.chr7:35131480A>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131480A>T														0	1889	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.423	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			4	258	0	0	0	0.387290	0	4	258				
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672																																						ENST00000391413.2																			2	Substitution - Missense(2)	p.S48R(2)	lung(1)|endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(142-144)agC>agG		keratin associated protein 4-11							11.0	16.0	14.0					17																	39274424		687	1589	2276	SO:0001583	missense	653240					keratin filament		g.chr17:39274424G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.144C>G	17.37:g.39274424G>C	ENSP00000375232:p.Ser48Arg						p.S48R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	182	-		Breast(137;0.000496)	48		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.144C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.52	2.262143	0.39995	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.91	3.91	0.45181	.	0.663392	0.11138	N	0.595595	T	0.06826	0.0174	M	0.91717	3.235	0.27842	N	0.941075	B	0.21606	0.058	B	0.25614	0.062	T	0.08310	-1.0728	10	0.66056	D	0.02	.	7.305	0.26443	0.1194:0.0:0.8806:0.0	.	48	Q9BYQ6	KR411_HUMAN	R	48	ENSP00000375232:S48R	ENSP00000375232:S48R	S	-	3	2	KRTAP4-11	36527950	0.739000	0.28196	0.990000	0.47175	0.119000	0.20118	0.787000	0.26858	2.015000	0.59207	0.609000	0.83330	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			15	464	0	0	0	0.539581	0	15	464				
APEH	327	broad.mit.edu	37	3	49723603	49723603	+	IGR	SNP	G	G	A	rs199969873	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:49723603G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.R347W|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank	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.R333W(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)		TCGGGGTTCCGGCAGAAGTTC	0.662													G|||	4	0.000798722	0.0008	0.0	5008	,	,		14102	0.001		0.001	False		,,,				2504	0.001					ENST00000449682.2																			5	Substitution - Missense(5)	p.R333W(5)	endometrium(4)|skin(1)	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.(1039-1041)Cgg>Tgg		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723603G>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.49723603G>A						MST1_ENST00000383728.3_3'UTR	p.R347W	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	1400	-			333			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1039C>T	CCDS2801.1	11	0.005036630036630037	4	0.008130081300813009	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	28.4	4.921307	0.92249	.	.	ENSG00000173531	ENST00000449682	D	0.93953	-3.32	5.47	2.53	0.30540	.	0.000000	0.38005	N	0.001857	D	0.96321	0.8800	H	0.97186	3.955	0.80722	D	1	D	0.56521	0.976	P	0.60609	0.877	D	0.95291	0.8395	10	0.66056	D	0.02	.	13.6859	0.62515	0.0:0.0:0.4634:0.5366	.	347	G3XAK1	.	W	347	ENSP00000414287:R347W	ENSP00000414287:R347W	R	-	1	2	MST1	49698607	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.194000	0.51005	0.213000	0.20722	0.655000	0.94253	CGG		0.662	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			5	163	0	0	0	0.335167	0	5	163				
DNM1P47	100216544	broad.mit.edu	37	15	102292820	102292820	+	RNA	SNP	G	G	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:102292820G>C	ENST00000561463.1	+	0	866									DNM1 pseudogene 47									p.T136T(2)									GCGTGGGAACGAGAAGACACT	0.592																																						ENST00000561463.1																			2	Substitution - coding silent(2)	p.T136T(2)	kidney(2)																																																0							g.chr15:102292820G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292820G>C														0	866	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	190	0	0	0	0.539581	0	7	190				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			10	891	0	0	0	0.387290	0	10	891				
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T	rs368809647		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	86	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(301-303)ggC>ggT		keratin associated protein 9-9							78.0	83.0	81.0					17																	39411940		2203	4297	6500	SO:0001819	synonymous_variant	81870					keratin filament		g.chr17:39411940C>T	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.303C>T	17.37:g.39411940C>T							p.G101G	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	305	+		Breast(137;0.000496)	101					B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	c.303C>T	CCDS54127.1																																																																																				0.617	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		9	817	0	0	0	0.361761	0	9	817				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			12	397	0	0	0	0.479597	0	12	397				
PCDHB13	56123	broad.mit.edu	37	5	140594939	140594939	+	Missense_Mutation	SNP	C	C	T	rs535862350		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:140594939C>T	ENST00000341948.4	+	1	1431	c.1244C>T	c.(1243-1245)gCg>gTg	p.A415V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	415	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAGCAGAGCGGAATACAAC	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20671	0.0		0.0	False		,,,				2504	0.001					ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1243-1245)gCg>gTg									112.0	103.0	106.0					5																	140594939		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594939C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1244C>T	5.37:g.140594939C>T	ENSP00000345491:p.Ala415Val						p.A415V	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1431	+			415			Cadherin 4.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1244C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	14.50	2.553086	0.45487	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.03663	3.85	3.5	1.63	0.23807	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14270	0.0345	H	0.94423	3.535	0.09310	N	1	P	0.36199	0.543	B	0.42462	0.388	T	0.03863	-1.0997	9	0.87932	D	0	.	10.3549	0.43958	0.148:0.7087:0.1433:0.0	.	415	Q9Y5F0	PCDBD_HUMAN	V	415	ENSP00000345491:A415V	ENSP00000345491:A415V	A	+	2	0	PCDHB13	140575123	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	1.246000	0.32803	0.051000	0.15978	-2.031000	0.00424	GCG		0.478	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		19	614	0	0	0	0.539581	0	19	614				
ARHGAP33	115703	broad.mit.edu	37	19	36278842	36278842	+	Silent	SNP	A	A	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:36278842A>C	ENST00000007510.4	+	21	3519	c.3375A>C	c.(3373-3375)tcA>tcC	p.S1125S	ARHGAP33_ENST00000314737.5_Silent_p.S964S|ARHGAP33_ENST00000378944.5_Silent_p.S961S|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1125					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTGGCCAATCACCCCCACTCC	0.667																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3373-3375)tcA>tcC		Rho GTPase activating protein 33							20.0	24.0	22.0					19																	36278842		2203	4298	6501	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278842A>C	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3375A>C	19.37:g.36278842A>C						ARHGAP33_ENST00000378944.5_Silent_p.S961S|ARHGAP33_ENST00000314737.5_Silent_p.S964S	p.S1125S			O14559	RHG33_HUMAN			21	3519	+			1125					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.3375A>C																																																																																					0.667	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		15	122	0	0	0	0.575678	0	15	122				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr21:11058168A>T	ENST00000470054.1	-	0	479							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)		TACATCTTTCAGGAGCTTGGT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							100.0	79.0	86.0					21																	11058168		692	1591	2283			85319							g.chr21:11058168A>T	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.11058168A>T												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	479	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		12	733	0	0	0	0.592651	0	12	733				
ZNF473	25888	broad.mit.edu	37	19	50548290	50548290	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:50548290G>T	ENST00000595661.1	+	6	1085	c.590G>T	c.(589-591)aGc>aTc	p.S197I	ZNF473_ENST00000391821.2_Missense_Mutation_p.S197I|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.S185I|ZNF473_ENST00000270617.3_Missense_Mutation_p.S197I|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	197					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCCGACCACAGCCAGCAGGAT	0.468																																						ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(589-591)aGc>aTc		zinc finger protein 473							65.0	61.0	63.0					19																	50548290		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548290G>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.590G>T	19.37:g.50548290G>T	ENSP00000472808:p.Ser197Ile					CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.S197I|ZNF473_ENST00000270617.3_Missense_Mutation_p.S197I|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.S185I	p.S197I			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	1085	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	197					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.590G>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391145	0.42410	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.09817	3.01;3.01;2.94	4.36	0.983	0.19767	.	0.440569	0.19421	N	0.114692	T	0.07413	0.0187	L	0.29908	0.895	0.28136	N	0.929982	P	0.50943	0.94	P	0.45037	0.467	T	0.27606	-1.0069	10	0.15499	T	0.54	-6.7845	6.053	0.19796	0.1824:0.158:0.6596:0.0	.	197	Q8WTR7	ZN473_HUMAN	I	197;197;185	ENSP00000270617:S197I;ENSP00000375697:S197I;ENSP00000388961:S185I	ENSP00000270617:S197I	S	+	2	0	ZNF473	55240102	.	.	0.124000	0.21820	0.120000	0.20174	.	.	0.336000	0.23639	0.655000	0.94253	AGC		0.468	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		14	429	1	0	1.05317e-09	0.457914	1.13895e-09	14	429				
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		POTE ankyrin domain family, member M							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					RP11-244H18.1_ENST00000547584.1_lincRNA	p.V308A	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			5	974	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		5	254	0	0	0	0.184627	0	5	254				
SPTB	6710	broad.mit.edu	37	14	65260215	65260215	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:65260215C>T	ENST00000389721.5	-	13	2198	c.2166G>A	c.(2164-2166)tcG>tcA	p.S722S	SPTB_ENST00000556626.1_Silent_p.S722S|SPTB_ENST00000389722.3_Silent_p.S722S|SPTB_ENST00000389720.3_Silent_p.S722S|SPTB_ENST00000542895.1_Silent_p.S722S	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	722					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCACTGTGCCGACACCTCCT	0.582																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(2164-2166)tcG>tcA		spectrin, beta, erythrocytic							56.0	54.0	55.0					14																	65260215		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65260215C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2166G>A	14.37:g.65260215C>T						SPTB_ENST00000389720.3_Silent_p.S722S|SPTB_ENST00000389721.5_Silent_p.S722S|SPTB_ENST00000542895.1_Silent_p.S722S|SPTB_ENST00000556626.1_Silent_p.S722S	p.S722S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2219	-		all_lung(585;4.15e-09)	722					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.2166G>A	CCDS32100.1																																																																																				0.582	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			11	356	0	0	0	0.361761	0	11	356				
SLC8A1	6546	broad.mit.edu	37	2	40656239	40656239	+	Silent	SNP	G	G	A	rs545044457		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:40656239G>A	ENST00000403092.1	-	2	1215	c.1182C>T	c.(1180-1182)caC>caT	p.H394H	SLC8A1_ENST00000406785.2_Silent_p.H394H|SLC8A1_ENST00000408028.2_Silent_p.H394H|SLC8A1_ENST00000406391.2_Silent_p.H394H|SLC8A1_ENST00000542756.1_Silent_p.H394H|SLC8A1_ENST00000405901.3_Silent_p.H394H|SLC8A1_ENST00000542024.1_Silent_p.H394H|SLC8A1_ENST00000405269.1_Silent_p.H394H|SLC8A1_ENST00000332839.4_Silent_p.H394H|SLC8A1_ENST00000402441.1_Silent_p.H394H			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	394					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGTTGACCTCGTGCATGCTGA	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21448	0.0		0.0	False		,,,				2504	0.0					ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1180-1182)caC>caT		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						129.0	103.0	112.0					2																	40656239		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656239G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1182C>T	2.37:g.40656239G>A						SLC8A1_ENST00000542756.1_Silent_p.H394H|SLC8A1_ENST00000542024.1_Silent_p.H394H|SLC8A1_ENST00000405901.3_Silent_p.H394H|SLC8A1_ENST00000405269.1_Silent_p.H394H|SLC8A1_ENST00000403092.1_Silent_p.H394H|SLC8A1_ENST00000402441.1_Silent_p.H394H|SLC8A1_ENST00000332839.4_Silent_p.H394H|SLC8A1_ENST00000408028.2_Silent_p.H394H|SLC8A1_ENST00000406391.2_Silent_p.H394H	p.H394H			P32418	NAC1_HUMAN			2	1371	-			394					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.1182C>T	CCDS1806.1																																																																																				0.468	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		16	456	0	0	0	0.479597	0	16	456				
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3																			5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		8	560	0	0	0	0.307466	0	8	560				
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418													A|||	38	0.00758786	0.0234	0.0043	5008	,	,		21479	0.002		0.001	False		,,,				2504	0.001					ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(931-933)caT>caC		zinc finger protein 83							108.0	113.0	111.0					19																	53116885		2201	4300	6501	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116885A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.933T>C	19.37:g.53116885A>G						ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron	p.H311H			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3186	-			311					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.933T>C	CCDS12854.1																																																																																				0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		7	784	0	0	0	0.248553	0	7	784				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G						LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron	p.S598P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			15	282	0	0	0	0.575678	0	15	282				
PCDHGA1	56114	broad.mit.edu	37	5	140712120	140712120	+	Silent	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:140712120G>A	ENST00000517417.1	+	1	1869	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	PCDHGA1_ENST00000378105.3_Silent_p.T623T	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	623	Cadherin 6. {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)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGCACACGGGCGAGGTGC	0.701																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1867-1869)acG>acA									20.0	25.0	23.0					5																	140712120		2146	4222	6368	SO:0001819	synonymous_variant	0							g.chr5:140712120G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1869G>A	5.37:g.140712120G>A						PCDHGA1_ENST00000378105.3_Silent_p.T623T	p.T623T	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1869	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.1869G>A	CCDS54922.1																																																																																				0.701	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		18	386	0	0	0	0.667858	0	18	386				
KRTAP4-11	653240	broad.mit.edu	37	17	39274161	39274161	+	Missense_Mutation	SNP	T	T	C	rs200329167	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:39274161T>C	ENST00000391413.2	-	1	445	c.407A>G	c.(406-408)cAc>cGc	p.H136R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	136	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcagctggggtggcagcaggt	0.662													t|||	497	0.0992412	0.174	0.1124	5008	,	,		19473	0.1478		0.0179	False		,,,				2504	0.0225					ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(406-408)cAc>cGc		keratin associated protein 4-11							8.0	14.0	12.0					17																	39274161		684	1586	2270	SO:0001583	missense	653240					keratin filament		g.chr17:39274161T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.407A>G	17.37:g.39274161T>C	ENSP00000375232:p.His136Arg						p.H136R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	445	-		Breast(137;0.000496)	136			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.407A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	6.053	0.378142	0.11466	.	.	ENSG00000212721	ENST00000391413	T	0.01203	5.18	4.43	-4.18	0.03846	.	606.472000	0.01656	U	0.024837	T	0.00241	0.0007	N	0.00030	-2.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53365	-0.8449	10	0.02654	T	1	.	0.2042	0.00148	0.2921:0.2622:0.1441:0.3015	.	136	Q9BYQ6	KR411_HUMAN	R	136	ENSP00000375232:H136R	ENSP00000375232:H136R	H	-	2	0	KRTAP4-11	36527687	0.000000	0.05858	0.005000	0.12908	0.909000	0.53808	-1.036000	0.03560	-0.298000	0.08921	-0.540000	0.04249	CAC		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	266	0	0	0	0.608945	0	6	266				
GHDC	84514	broad.mit.edu	37	17	40344270	40344270	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:40344270G>A	ENST00000301671.8	-	4	1319	c.878C>T	c.(877-879)gCt>gTt	p.A293V	GHDC_ENST00000593209.1_Missense_Mutation_p.A293V|GHDC_ENST00000428494.2_Missense_Mutation_p.A254V|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000587427.1_Missense_Mutation_p.A293V|GHDC_ENST00000436923.2_Missense_Mutation_p.A293V|GHDC_ENST00000414034.3_Missense_Mutation_p.A293V			Q8N2G8	GHDC_HUMAN	GH3 domain containing	293						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCCCGAGGCAGCATAAGCAGG	0.607																																						ENST00000301671.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(877-879)gCt>gTt		GH3 domain containing							114.0	110.0	111.0					17																	40344270		2174	4271	6445	SO:0001583	missense	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40344270G>A	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.878C>T	17.37:g.40344270G>A	ENSP00000301671:p.Ala293Val					GHDC_ENST00000593209.1_Missense_Mutation_p.A293V|GHDC_ENST00000587427.1_Missense_Mutation_p.A293V|GHDC_ENST00000436923.2_Missense_Mutation_p.A293V|GHDC_ENST00000428494.2_Missense_Mutation_p.A254V|GHDC_ENST00000414034.3_Missense_Mutation_p.A293V	p.A293V			Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	4	1319	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	293					B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	c.878C>T	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784509	0.31593	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.21	-0.341	0.12639	.	0.575297	0.16115	N	0.228891	T	0.30448	0.0765	L	0.50333	1.59	0.24253	N	0.995312	B;B;B	0.24186	0.079;0.099;0.028	B;B;B	0.28011	0.068;0.085;0.019	T	0.25257	-1.0137	9	0.16420	T	0.52	-0.1174	5.9724	0.19359	0.5217:0.0:0.4783:0.0	.	254;293;293	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	V	237;254;293;293;293	.	ENSP00000301671:A293V	A	-	2	0	GHDC	37597796	0.000000	0.05858	0.005000	0.12908	0.802000	0.45316	-0.016000	0.12613	0.097000	0.17492	-0.258000	0.10820	GCT		0.607	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		7	1187	0	0	0	0.217242	0	7	1187				
GRIK4	2900	broad.mit.edu	37	11	120838027	120838027	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:120838027C>T	ENST00000527524.2	+	19	2677	c.2390C>T	c.(2389-2391)gCt>gTt	p.A797V	GRIK4_ENST00000438375.2_Missense_Mutation_p.A797V	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	797					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GATCACAGAGCTAAAGGTAAG	0.522																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(2389-2391)gCt>gTt		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						109.0	98.0	102.0					11																	120838027		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120838027C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2390C>T	11.37:g.120838027C>T	ENSP00000435648:p.Ala797Val					GRIK4_ENST00000438375.2_Missense_Mutation_p.A797V	p.A797V			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	19	2677	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	797					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.2390C>T	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	35	5.503700	0.96371	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.54479	0.57;0.57	5.41	5.41	0.78517	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.64676	1.99	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.73678	-0.3907	10	0.87932	D	0	.	18.7905	0.91973	0.0:1.0:0.0:0.0	.	797	Q16099	GRIK4_HUMAN	V	797	ENSP00000435648:A797V;ENSP00000404063:A797V	ENSP00000404063:A797V	A	+	2	0	GRIK4	120343237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.032000	0.70918	2.537000	0.85549	0.563000	0.77884	GCT		0.522	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		6	245	0	0	0	0.278610	0	6	245				
TPRG1	285386	broad.mit.edu	37	3	189028237	189028237	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:189028237G>A	ENST00000345063.3	+	5	709	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TPRG1_ENST00000433971.1_Missense_Mutation_p.R181H	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	181						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CTTCTGTCCCGCTGGAACCCA	0.473																																						ENST00000345063.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16						c.(541-543)cGc>cAc		tumor protein p63 regulated 1							80.0	78.0	79.0					3																	189028237		2203	4300	6503	SO:0001583	missense	285386							g.chr3:189028237G>A	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.542G>A	3.37:g.189028237G>A	ENSP00000341031:p.Arg181His					TPRG1_ENST00000433971.1_Missense_Mutation_p.R181H	p.R181H	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	5	709	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	181						Missense_Mutation	SNP	ENST00000345063.3	37	c.542G>A	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865563	0.71949	.	.	ENSG00000188001	ENST00000433971;ENST00000345063	.	.	.	5.83	4.93	0.64822	.	0.052144	0.64402	D	0.000001	T	0.61350	0.2340	M	0.74647	2.275	0.52099	D	0.999945	B	0.17465	0.022	B	0.10450	0.005	T	0.62248	-0.6894	9	0.87932	D	0	-2.1854	10.2396	0.43303	0.1661:0.0:0.8339:0.0	.	181	Q6ZUI0	TPRG1_HUMAN	H	181	.	ENSP00000341031:R181H	R	+	2	0	TPRG1	190510931	1.000000	0.71417	0.494000	0.27515	0.710000	0.40934	4.374000	0.59543	1.416000	0.47057	0.585000	0.79938	CGC		0.473	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485		5	375	0	0	0	0.184627	0	5	375				
FAM86EP	348926	broad.mit.edu	37	4	3954857	3954857	+	RNA	SNP	C	C	A	rs17410899		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:3954857C>A	ENST00000313946.8	-	0	135				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AATATCCCGCCGCAGCTCAGA	0.488																																						ENST00000281228.8																			0																																																			0							g.chr4:3954857C>A			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3954857C>A						FAM86EP_ENST00000313946.8_RNA								0	141	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.488	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			6	357	1	0	0.307466	0.307466	0.308758	6	357				
KLB	152831	broad.mit.edu	37	4	39448687	39448687	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:39448687G>A	ENST00000257408.4	+	4	2438	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	781	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAAGACCGGGGACTACCCCGC	0.672																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(2341-2343)Gac>Aac		klotho beta							28.0	31.0	30.0					4																	39448687		2188	4276	6464	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448687G>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2341G>A	4.37:g.39448687G>A	ENSP00000257408:p.Asp781Asn						p.D781N	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			4	2438	+			781			Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.2341G>A	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854905	0.71719	.	.	ENSG00000134962	ENST00000257408	T	0.33654	1.4	4.95	4.95	0.65309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.050736	0.85682	D	0.000000	T	0.41465	0.1160	M	0.65975	2.015	0.49051	D	0.99974	P;P	0.44139	0.827;0.827	B;B	0.43445	0.42;0.42	T	0.46289	-0.9202	10	0.87932	D	0	-32.5532	12.6289	0.56646	0.0803:0.0:0.9197:0.0	.	772;781	B7ZL50;Q86Z14	.;KLOTB_HUMAN	N	781	ENSP00000257408:D781N	ENSP00000257408:D781N	D	+	1	0	KLB	39125082	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	5.387000	0.66243	2.293000	0.77203	0.313000	0.20887	GAC		0.672	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		16	417	0	0	0	0.557998	0	16	417				
RANBP2	5903	broad.mit.edu	37	2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					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						CTTTACTGAAAATGATTTGCC	0.348																																						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.(2434-2436)aaA>aaT		RAN binding protein 2							156.0	173.0	167.0					2																	109371685		2202	4299	6501	SO:0001583	missense	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.chr2:109371685A>T	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.2436A>T	2.37:g.109371685A>T	ENSP00000283195:p.Lys812Asn						p.K812N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2562	+			812					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2436A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.71	3.197492	0.58126	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.23147	1.92	5.8	5.8	0.92144	.	.	.	.	.	T	0.17066	0.0410	L	0.27053	0.805	0.33230	D	0.555798	P	0.38922	0.651	B	0.32677	0.15	T	0.24799	-1.0150	9	0.42905	T	0.14	-15.3403	11.2285	0.48899	0.929:0.0:0.071:0.0	.	812	P49792	RBP2_HUMAN	N	812	ENSP00000283195:K812N	ENSP00000283195:K812N	K	+	3	2	RANBP2	108738117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.509000	0.53386	2.210000	0.71456	0.443000	0.29094	AAA		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		10	1379	0	0	0	0.500413	0	10	1379				
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:16285788C>T	ENST00000395837.1	+	2	748	c.567C>T	c.(565-567)ccC>ccT	p.P189P	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.P189P|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P189P	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			1	Substitution - coding silent(1)	p.P189P(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(565-567)ccC>ccT		ubiquitin B							55.0	59.0	58.0					17																	16285788		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285788C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.567C>T	17.37:g.16285788C>T						UBB_ENST00000395837.1_Silent_p.P189P|UBB_ENST00000395839.1_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.P113P	p.P189P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	959	+			189			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.567C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		6	490	0	0	0	0.278610	0	6	490				
MYH9	4627	broad.mit.edu	37	22	36702080	36702080	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:36702080C>T	ENST00000216181.5	-	17	2285	c.2055G>A	c.(2053-2055)ccG>ccA	p.P685P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	685	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCACGAGATGCGGGTCCAGCT	0.592			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2053-2055)ccG>ccA		myosin, heavy chain 9, non-muscle							66.0	62.0	64.0					22																	36702080		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36702080C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2055G>A	22.37:g.36702080C>T							p.P685P	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			17	2285	-			685			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.2055G>A	CCDS13927.1																																																																																				0.592	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		6	531	0	0	0	0.248553	0	6	531				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			10	458	0	0	0	0.361761	0	10	458				
AHNAK2	113146	broad.mit.edu	37	14	105412376	105412376	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:105412376C>T	ENST00000333244.5	-	7	9531	c.9412G>A	c.(9412-9414)Gcc>Acc	p.A3138T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3138						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTCTTTGGCAGTCACATCC	0.602																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9412-9414)Gcc>Acc		AHNAK nucleoprotein 2							169.0	135.0	146.0					14																	105412376		1908	4076	5984	SO:0001583	missense	113146					nucleus		g.chr14:105412376C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9412G>A	14.37:g.105412376C>T	ENSP00000353114:p.Ala3138Thr					AHNAK2_ENST00000557457.1_Intron	p.A3138T	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9531	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3138					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9412G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	1.596	-0.527716	0.04112	.	.	ENSG00000185567	ENST00000333244	T	0.00902	5.56	2.93	2.02	0.26589	.	.	.	.	.	T	0.00754	0.0025	N	0.25380	0.74	0.09310	N	1	B	0.33637	0.42	B	0.30782	0.12	T	0.49818	-0.8899	9	0.22109	T	0.4	.	5.5134	0.16894	0.0:0.837:0.0:0.163	.	3138	Q8IVF2	AHNK2_HUMAN	T	3138	ENSP00000353114:A3138T	ENSP00000353114:A3138T	A	-	1	0	AHNAK2	104483421	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-4.196000	0.00276	0.415000	0.25817	0.313000	0.20887	GCC		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		11	2571	0	0	0	0.361761	0	11	2571				
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G	rs544520355	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000512865.1_Intron|RP11-76G10.1_ENST00000514843.1_RNA	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14.0	17.0	16.0					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000344721.4_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000503313.1_5'UTR	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			14	90	0	0	0	0.847076	0	14	90				
CD163L1	283316	broad.mit.edu	37	12	7559406	7559406	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:7559406C>T	ENST00000313599.3	-	5	866	c.809G>A	c.(808-810)cGc>cAc	p.R270H	CD163L1_ENST00000416109.2_Missense_Mutation_p.R280H|CD163L1_ENST00000396630.1_Missense_Mutation_p.R270H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	270	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATACAGCGGTTAGTTCC	0.448																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(808-810)cGc>cAc		CD163 molecule-like 1							209.0	186.0	194.0					12																	7559406		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559406C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.809G>A	12.37:g.7559406C>T	ENSP00000315945:p.Arg270His					CD163L1_ENST00000416109.2_Missense_Mutation_p.R280H|CD163L1_ENST00000396630.1_Missense_Mutation_p.R270H	p.R270H			Q9NR16	C163B_HUMAN			5	866	-			270			SRCR 3.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.809G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331677	0.24167	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36340	1.26;1.26;1.26	1.88	-1.44	0.08856	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.24044	0.0582	L	0.37697	1.125	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.09377	0.004;0.004	T	0.21008	-1.0258	9	0.42905	T	0.14	.	5.8061	0.18440	0.0:0.3986:0.0:0.6014	.	280;270	E7EVK4;Q9NR16	.;C163B_HUMAN	H	270;280;270	ENSP00000315945:R270H;ENSP00000393474:R280H;ENSP00000379871:R270H	ENSP00000315945:R270H	R	-	2	0	CD163L1	7450673	0.000000	0.05858	0.000000	0.03702	0.560000	0.35617	-4.189000	0.00277	-0.331000	0.08501	0.460000	0.39030	CGC		0.448	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		27	544	0	0	0	0.706142	0	27	544				
RALGAPA1	253959	broad.mit.edu	37	14	36064899	36064899	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:36064899C>T	ENST00000389698.3	-	36	6022	c.5632G>A	c.(5632-5634)Gta>Ata	p.V1878I	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.V1878I|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.V1925I|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.V1891I	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1878	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGAAATATTACCTCTACTGTA	0.353																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(5773-5775)Gta>Ata		Ral GTPase activating protein, alpha subunit 1 (catalytic)							144.0	141.0	142.0					14																	36064899		2202	4300	6502	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36064899C>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5632G>A	14.37:g.36064899C>T	ENSP00000374348:p.Val1878Ile					RALGAPA1_ENST00000307138.6_Missense_Mutation_p.V1878I|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.V1878I|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.V1891I	p.V1925I			Q6GYQ0	RGPA1_HUMAN			37	6163	-			1878			Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.5773G>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542814	0.86022	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.05	5.05	0.67936	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	L	0.39085	1.19	0.53688	D	0.999976	D;P;P;P	0.76494	0.999;0.927;0.918;0.756	D;P;P;P	0.80764	0.994;0.842;0.554;0.531	D	0.94142	0.7398	10	0.51188	T	0.08	-13.6603	18.7911	0.91974	0.0:1.0:0.0:0.0	.	1925;1891;1878;1878	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	I	1878;1878;1878;1925;516;1891;1925	ENSP00000374348:V1878I;ENSP00000302647:V1878I;ENSP00000258840:V1925I;ENSP00000451133:V516I;ENSP00000371803:V1891I;ENSP00000451877:V1925I	ENSP00000258840:V1925I	V	-	1	0	RALGAPA1	35134650	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.039000	0.70972	2.493000	0.84123	0.655000	0.94253	GTA		0.353	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		12	515	0	0	0	0.411799	0	12	515				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-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)	p.Q269Q(15)		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						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	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.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	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.chr20:33345744C>T	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.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		12	344	0	0	0	0.411799	0	12	344				
KRTAP5-4	387267	broad.mit.edu	37	11	1643036	1643036	+	Silent	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:1643036A>G	ENST00000399682.1	-	1	332	c.288T>C	c.(286-288)ggT>ggC	p.G96G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAGG	0.682																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(286-288)ggT>ggC		keratin associated protein 5-4							6.0	12.0	10.0					11																	1643036		650	1527	2177	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1643036A>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.288T>C	11.37:g.1643036A>G							p.G96G	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	332	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	96			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.288T>C																																																																																					0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		23	529	0	0	0	0.750413	0	23	529				
PTCHD2	57540	broad.mit.edu	37	1	11579468	11579468	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:11579468C>T	ENST00000294484.6	+	8	2084	c.1946C>T	c.(1945-1947)gCc>gTc	p.A649V	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A649V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	649					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GACGTGTTTGCCGCTCCCGAG	0.637																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(1945-1947)gCc>gTc		patched domain containing 2							131.0	144.0	140.0					1																	11579468		2018	4176	6194	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11579468C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1946C>T	1.37:g.11579468C>T	ENSP00000294484:p.Ala649Val					PTCHD2_ENST00000389575.3_Missense_Mutation_p.A649V	p.A649V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	8	2084	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	649					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1946C>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	c	0.062	-1.222704	0.01530	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.89343	-2.5;-2.5	5.31	4.2	0.49525	.	0.708452	0.14158	N	0.337598	T	0.74741	0.3756	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.60357	-0.7279	10	0.27785	T	0.31	-7.2097	7.9709	0.30127	0.0:0.8421:0.0:0.1579	.	649	Q9P2K9	PTHD2_HUMAN	V	649	ENSP00000294484:A649V;ENSP00000374226:A649V	ENSP00000294484:A649V	A	+	2	0	PTCHD2	11502055	0.037000	0.19845	0.620000	0.29132	0.040000	0.13550	2.572000	0.45999	2.491000	0.84063	0.651000	0.88453	GCC		0.637	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		7	1246	0	0	0	0.278610	0	7	1246				
MUC21	394263	broad.mit.edu	37	6	30955025	30955025	+	Missense_Mutation	SNP	G	G	A	rs55763085		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:30955025G>A	ENST00000376296.3	+	2	1314	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	358	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S358N(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGGGGCCAGCACAGCCACC	0.642																																						ENST00000376296.3																			1	Substitution - Missense(1)	p.S358N(1)	lung(1)	NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1072-1074)aGc>aAc		mucin 21, cell surface associated							135.0	134.0	135.0					6																	30955025		2202	4298	6500	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30955025G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1073G>A	6.37:g.30955025G>A	ENSP00000365473:p.Ser358Asn					MUC21_ENST00000486149.2_5'UTR	p.S358N	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1314	+			358			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.1073G>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	g	11.44	1.638585	0.29157	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02863	4.13	4.44	1.37	0.22104	.	.	.	.	.	T	0.00724	0.0024	N	0.17082	0.46	0.09310	N	1	B	0.27498	0.18	B	0.29176	0.099	T	0.47509	-0.9112	9	0.36615	T	0.2	-6.2264	7.3385	0.26623	0.0985:0.4534:0.448:0.0	rs55763085	358	Q5SSG8	MUC21_HUMAN	N	208;358	ENSP00000365473:S358N	ENSP00000365473:S358N	S	+	2	0	MUC21	31063004	0.000000	0.05858	0.067000	0.19924	0.130000	0.20726	-0.612000	0.05616	0.590000	0.29694	-0.192000	0.12808	AGC		0.642	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		13	2281	0	0	0	0.184627	0	13	2281				
MOV10L1	54456	broad.mit.edu	37	22	50591565	50591565	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:50591565C>T	ENST00000262794.5	+	22	3067	c.2984C>T	c.(2983-2985)gCg>gTg	p.A995V	MOV10L1_ENST00000540615.1_Missense_Mutation_p.A975V|MOV10L1_ENST00000395843.1_Missense_Mutation_p.A38V|MOV10L1_ENST00000354853.2_Missense_Mutation_p.A38V|MOV10L1_ENST00000395852.1_Missense_Mutation_p.A122V|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A995V|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A995V	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	995					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAGGTCTGTGCGGACCCCACA	0.577																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2983-2985)gCg>gTg		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							205.0	191.0	196.0					22																	50591565		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50591565C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2984C>T	22.37:g.50591565C>T	ENSP00000262794:p.Ala995Val					MOV10L1_ENST00000395858.3_Missense_Mutation_p.A995V|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A995V|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A975V|MOV10L1_ENST00000354853.2_Missense_Mutation_p.A38V|MOV10L1_ENST00000395843.1_Missense_Mutation_p.A38V|MOV10L1_ENST00000395852.1_Missense_Mutation_p.A122V	p.A995V	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	22	3067	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	995					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2984C>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	17.01	3.278572	0.59758	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000395843;ENST00000540615;ENST00000395852;ENST00000354853	D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.11	5.11	0.69529	.	0.049834	0.85682	D	0.000000	D	0.95809	0.8636	M	0.77616	2.38	0.45216	D	0.998227	D;D;P;D;D	0.89917	1.0;0.999;0.931;0.999;0.999	D;D;B;D;D	0.66084	0.939;0.935;0.318;0.941;0.919	D	0.96234	0.9170	10	0.72032	D	0.01	-23.7788	18.5434	0.91038	0.0:1.0:0.0:0.0	.	975;38;122;995;995	F5H403;Q9BXT6-3;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;.;M10L1_HUMAN	V	995;995;995;38;975;122;38	ENSP00000438978:A995V;ENSP00000262794:A995V;ENSP00000379199:A995V;ENSP00000379184:A38V;ENSP00000438542:A975V;ENSP00000379193:A122V;ENSP00000346917:A38V	ENSP00000262794:A995V	A	+	2	0	MOV10L1	48933692	1.000000	0.71417	0.988000	0.46212	0.046000	0.14306	4.245000	0.58734	2.376000	0.81061	0.462000	0.41574	GCG		0.577	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		6	708	0	0	0	0.248553	0	6	708				
TATDN2	9797	broad.mit.edu	37	3	10312110	10312110	+	Missense_Mutation	SNP	G	G	A	rs374867810		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:10312110G>A	ENST00000287652.4	+	4	2295	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	TATDN2_ENST00000448281.2_Missense_Mutation_p.R415H|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	415					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.R415H(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGCCGGAGCCGCATGAGTGAT	0.567																																						ENST00000287652.4																			1	Substitution - Missense(1)	p.R415H(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1243-1245)cGc>cAc		TatD DNase domain containing 2							86.0	86.0	86.0					3																	10312110		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312110G>A	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1244G>A	3.37:g.10312110G>A	ENSP00000287652:p.Arg415His					RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.R415H	p.R415H	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			4	2295	+			415					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.1244G>A	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	8.315	0.822940	0.16678	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.43294	0.95;0.95	4.65	-7.6	0.01303	.	.	.	.	.	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15723	-1.0427	9	0.30854	T	0.27	-1.0794	1.7629	0.02995	0.2604:0.0815:0.319:0.3391	.	415	Q93075	TATD2_HUMAN	H	415	ENSP00000287652:R415H;ENSP00000408736:R415H	ENSP00000287652:R415H	R	+	2	0	TATDN2	10287110	0.000000	0.05858	0.002000	0.10522	0.142000	0.21351	-0.096000	0.11059	-0.765000	0.04645	-0.280000	0.10049	CGC		0.567	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		6	823	0	0	0	0.217242	0	6	823				
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483																																						ENST00000535591.1																			1	Substitution - Missense(1)	p.C84S(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(250-252)tGc>tCc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887606C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.251G>C	1.37:g.12887606C>G	ENSP00000439551:p.Cys84Ser						p.C84S	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	446	-			84						Missense_Mutation	SNP	ENST00000535591.1	37	c.251G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.676	0.903882	0.17760	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.18016	2.24;2.24	1.48	-0.635	0.11512	.	1.371720	0.04624	N	0.402516	T	0.15825	0.0381	L	0.54908	1.71	0.09310	N	1	P	0.44816	0.844	B	0.41764	0.366	T	0.23904	-1.0175	10	0.16896	T	0.51	.	3.692	0.08350	0.2835:0.4381:0.2784:0.0	rs58074988	84	O60813	PRA11_HUMAN	S	84;125;84	ENSP00000439551:C84S;ENSP00000391839:C84S	ENSP00000328783:C125S	C	-	2	0	PRAMEF11	12810193	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.358000	0.07641	-0.176000	0.10707	-1.934000	0.00508	TGC		0.483	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		9	1719	0	0	0	0.248553	0	9	1719				
AKR7A2	8574	broad.mit.edu	37	1	19632583	19632583	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:19632583C>T	ENST00000235835.3	-	6	868	c.847G>A	c.(847-849)Gca>Aca	p.A283T	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	283					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCATATGCGGCCTGCAGG	0.632																																						ENST00000235835.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(847-849)Gca>Aca		aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)							81.0	76.0	77.0					1																	19632583		2203	4300	6503	SO:0001583	missense	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19632583C>T	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.847G>A	1.37:g.19632583C>T	ENSP00000235835:p.Ala283Thr						p.A283T	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	868	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	283					O75749|Q5TG63	Missense_Mutation	SNP	ENST00000235835.3	37	c.847G>A	CCDS194.1	.	.	.	.	.	.	.	.	.	.	C	2.734	-0.263746	0.05754	.	.	ENSG00000053371	ENST00000235835;ENST00000330072;ENST00000489286	T;T	0.04234	3.67;3.67	3.84	-4.86	0.03132	NADP-dependent oxidoreductase domain (3);	0.486606	0.22144	N	0.064003	T	0.02807	0.0084	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41963	-0.9479	10	0.20046	T	0.44	.	6.4401	0.21845	0.123:0.3475:0.0:0.5296	.	283	O43488	ARK72_HUMAN	T	283;238;145	ENSP00000235835:A283T;ENSP00000339084:A238T	ENSP00000235835:A283T	A	-	1	0	AKR7A2	19505170	0.010000	0.17322	0.001000	0.08648	0.017000	0.09413	0.315000	0.19451	-0.830000	0.04262	-1.010000	0.02471	GCA		0.632	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		6	558	0	0	0	0.217242	0	6	558				
UBC	7316	broad.mit.edu	37	12	125398267	125398267	+	Silent	SNP	A	A	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:125398267A>C	ENST00000538617.1	-	3	367	c.51T>G	c.(49-51)gtT>gtG	p.V17V	UBC_ENST00000339647.5_Silent_p.V17V|UBC_ENST00000536769.1_Silent_p.V17V|UBC_ENST00000546120.1_Silent_p.V17V|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'UTR			P0CG48	UBC_HUMAN	ubiquitin C	397	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CACTGGGCTCAACCTCGAGGG	0.473																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(49-51)gtT>gtG		ubiquitin C							185.0	175.0	179.0					12																	125398267		2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125398267A>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.51T>G	12.37:g.125398267A>C						UBC_ENST00000536661.1_5'UTR|UBC_ENST00000538617.1_Silent_p.V17V|UBC_ENST00000546120.1_Silent_p.V17V|UBC_ENST00000339647.5_Silent_p.V17V	p.V17V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1627	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		17			Ubiquitin-like 1.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.51T>G																																																																																					0.473	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		9	1099	0	0	0	0.387290	0	9	1099				
CFAP46	54777	broad.mit.edu	37	10	134660745	134660745	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:134660745C>T	ENST00000368586.5	-	42	6133	c.6033G>A	c.(6031-6033)ccG>ccA	p.P2011P	TTC40_ENST00000263170.5_Silent_p.P172P	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGGAGGCCGGCGGGTCCCTGC	0.677																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(6031-6033)ccG>ccA		tetratricopeptide repeat domain 40							53.0	62.0	59.0					10																	134660745		2203	4300	6503	SO:0001819	synonymous_variant	54777							g.chr10:134660745C>T																												ENST00000368586.5:c.6033G>A	10.37:g.134660745C>T						TTC40_ENST00000263170.5_Silent_p.P172P	p.P2011P	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			42	6133	-			172						Silent	SNP	ENST00000368586.5	37	c.6033G>A	CCDS58101.1																																																																																				0.677	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			7	539	0	0	0	0.248553	0	7	539				
SYNGAP1	8831	broad.mit.edu	37	6	33405686	33405686	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:33405686G>A	ENST00000418600.2	+	8	1105	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R335H|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R276H	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	335	C2.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GACAAAAAGCGCAAGAAGGAC	0.607																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(1003-1005)cGc>cAc		synaptic Ras GTPase activating protein 1							75.0	69.0	71.0					6																	33405686		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405686G>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1004G>A	6.37:g.33405686G>A	ENSP00000403636:p.Arg335His					SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R276H|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R335H	p.R335H	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			8	1105	+			335			C2.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.1004G>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763499	0.69763	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.40476	1.03;1.03;1.03	4.5	3.63	0.41609	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	T	0.41558	0.1164	L	0.44542	1.39	0.51482	D	0.999924	D;D;D;P	0.89917	1.0;1.0;1.0;0.889	D;D;D;P	0.87578	0.998;0.996;0.996;0.487	T	0.43877	-0.9364	10	0.87932	D	0	.	8.4886	0.33086	0.1058:0.0:0.8942:0.0	.	335;335;335;335	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	H	335;335;335;276	ENSP00000293748:R335H;ENSP00000403636:R335H;ENSP00000412475:R276H	ENSP00000293748:R335H	R	+	2	0	SYNGAP1	33513664	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.360000	0.44151	1.110000	0.41699	0.655000	0.94253	CGC		0.607	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		7	526	0	0	0	0.248553	0	7	526				
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:43318571G>A	ENST00000374518.5	+	20	3201	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1046					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.M1046I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393																																						ENST00000374518.4																			1	Substitution - Missense(1)	p.M1046I(1)	endometrium(1)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3136-3138)atG>atA		BMS1 ribosome biogenesis factor							74.0	83.0	80.0					10																	43318571		2202	4297	6499	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318571G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3138G>A	10.37:g.43318571G>A	ENSP00000363642:p.Met1046Ile						p.M1046I	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3201	+			1046					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3138G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485181	0.63962	.	.	ENSG00000165733	ENST00000374518	T	0.26957	1.7	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.86953	2.85	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.48636	-0.9018	10	0.72032	D	0.01	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1046	Q14692	BMS1_HUMAN	I	1046	ENSP00000363642:M1046I	ENSP00000363642:M1046I	M	+	3	0	BMS1	42638577	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.443000	0.97568	2.250000	0.74265	0.454000	0.30748	ATG		0.393	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		7	805	0	0	0	0.479597	0	7	805				
ZNF285	26974	broad.mit.edu	37	19	44892085	44892085	+	Missense_Mutation	SNP	T	T	A	rs79240579		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:44892085T>A	ENST00000330997.4	-	4	386	c.322A>T	c.(322-324)Agt>Tgt	p.S108C	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S108C|ZNF285_ENST00000591679.1_Missense_Mutation_p.S115C	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CACTCTTCACTGAGGGAAACA	0.393																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(322-324)Agt>Tgt		zinc finger protein 285							90.0	89.0	89.0					19																	44892085		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44892085T>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.322A>T	19.37:g.44892085T>A	ENSP00000333595:p.Ser108Cys					ZNF285_ENST00000591679.1_Missense_Mutation_p.S115C|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S108C	p.S108C	NM_152354.3	NP_689567.3					4	386	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.322A>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	5.371	0.253712	0.10185	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.05717	3.4	3.22	1.05	0.20165	.	.	.	.	.	T	0.02119	0.0066	N	0.01668	-0.77	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43814	-0.9368	9	0.49607	T	0.09	.	2.7258	0.05213	0.644:0.0:0.1304:0.2256	.	132;108	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	C	131;108	ENSP00000333595:S108C	ENSP00000333595:S108C	S	-	1	0	ZNF285	49583925	0.000000	0.05858	0.023000	0.16930	0.271000	0.26615	0.103000	0.15292	0.036000	0.15547	-0.610000	0.04054	AGT		0.393	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		6	774	0	0	0	0.479597	0	6	774				
CTNNA3	29119	broad.mit.edu	37	10	68940142	68940142	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:68940142C>T	ENST00000433211.2	-	7	1154	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	CTNNA3_ENST00000545309.1_Missense_Mutation_p.R327Q|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R327Q	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.R327Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGCGATAATCCGCTCTCGGTG	0.517																																						ENST00000433211.1																			2	Substitution - Missense(2)	p.R327Q(2)	skin(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(979-981)cGg>cAg		catenin (cadherin-associated protein), alpha 3							147.0	126.0	133.0					10																	68940142		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68940142C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.980G>A	10.37:g.68940142C>T	ENSP00000389714:p.Arg327Gln					CTNNA3_ENST00000373744.4_Missense_Mutation_p.R327Q|CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R327Q	p.R327Q	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			7	1154	-			327						Missense_Mutation	SNP	ENST00000433211.2	37	c.980G>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199060	0.94997	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.38722	1.45;1.45;1.12	5.83	5.83	0.93111	.	0.000000	0.46442	D	0.000281	T	0.64811	0.2632	M	0.67700	2.07	0.49213	D	0.999767	D;D;D;D	0.89917	1.0;1.0;0.984;0.998	D;D;P;D	0.87578	0.998;0.998;0.889;0.992	T	0.61816	-0.6985	10	0.45353	T	0.12	-7.9917	18.8814	0.92357	0.0:1.0:0.0:0.0	.	327;327;327;327	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	Q	327	ENSP00000389714:R327Q;ENSP00000362849:R327Q;ENSP00000441444:R327Q	ENSP00000362849:R327Q	R	-	2	0	CTNNA3	68610148	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	6.079000	0.71291	2.753000	0.94483	0.585000	0.79938	CGG		0.517	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		17	450	0	0	0	0.520397	0	17	450				
USP29	57663	broad.mit.edu	37	19	57642253	57642253	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:57642253G>A	ENST00000254181.4	+	4	2664	c.2210G>A	c.(2209-2211)tGt>tAt	p.C737Y	USP29_ENST00000598197.1_Missense_Mutation_p.C737Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	737	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCCAGCAGTGTATTGAGGAG	0.458																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(2209-2211)tGt>tAt		ubiquitin specific peptidase 29							63.0	59.0	60.0					19																	57642253		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642253G>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2210G>A	19.37:g.57642253G>A	ENSP00000254181:p.Cys737Tyr					USP29_ENST00000598197.1_Missense_Mutation_p.C737Y	p.C737Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2664	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	737						Missense_Mutation	SNP	ENST00000254181.4	37	c.2210G>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.235668	0.00277	.	.	ENSG00000131864	ENST00000254181	T	0.41400	1.0	2.18	-3.46	0.04767	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.15089	0.0364	N	0.10916	0.065	0.09310	N	1	B	0.21381	0.055	B	0.22386	0.039	T	0.26916	-1.0089	9	0.09084	T	0.74	.	0.5372	0.00638	0.4081:0.1745:0.2268:0.1905	.	737	Q9HBJ7	UBP29_HUMAN	Y	737	ENSP00000254181:C737Y	ENSP00000254181:C737Y	C	+	2	0	USP29	62334065	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.000000	0.12993	-0.815000	0.04346	0.467000	0.42956	TGT		0.458	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			23	398	0	0	0	0.654019	0	23	398				
RP11-423O2.5	0	broad.mit.edu	37	1	142803746	142803746	+	lincRNA	SNP	A	A	G	rs371041896		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:142803746A>G	ENST00000423385.1	-	0	1219																											actatggattagagctgatta	0.393																																						ENST00000423385.1																			0																																																			0							g.chr1:142803746A>G																													1.37:g.142803746A>G														0	1219	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.393	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			8	61	0	0	0	0.307466	0	8	61				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		10	1066	0	0	0	0.335167	0	10	1066				
GABRD	2563	broad.mit.edu	37	1	1956774	1956774	+	Splice_Site	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:1956774delC	ENST00000378585.4	+	3	266	c.183delC	c.(181-183)ggc>gg	p.G61fs		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	61					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V64fs*365(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|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)	TCCTTGCAGGCCCCCCCGTGA	0.647																																						ENST00000378585.4																			1	Insertion - Frameshift(1)	p.V64fs*365(1)	lung(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.e3-1		gamma-aminobutyric acid (GABA) A receptor, delta							70.0	76.0	74.0					1																	1956774		2203	4299	6502	SO:0001630	splice_region_variant	2563					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.chr1:1956774delC	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.182-1C>-	1.37:g.1956774delC							p.G61_splice	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	3	266	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	61					Q8N4N9	Splice_Site	DEL	ENST00000378585.4	37	c.181_splice	CCDS36.1																																																																																				0.647	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815	Frame_Shift_Del	7	813						7	813	---	---	---	---
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(343-345)afs		DnaJ (Hsp40) homolog, subfamily C, member 11																																				SO:0001589	frameshift_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727803_6727804delTC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs					DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|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		13	266						13	266	---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7811329	7811329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:7811329delA	ENST00000303635.7	+	20	4967	c.4760delA	c.(4759-4761)caafs	p.Q1587fs	CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs|CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs	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_ENST00000476864.1_Frame_Shift_Del_p.Q151fs|CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs	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		11	1652						11	1652	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gagfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(2407-2409)gfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255142_16255143delGA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2407_2408delGA	1.37:g.16255152_16255153delGA	ENSP00000364912:p.Glu803fs						p.E803fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2611_2612	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	803			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.2407_2408delGA	CCDS164.1																																																																																				0.431	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		10	750						10	750	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16953827	16953828	+	lincRNA	INS	-	-	C	rs57007114|rs397767732		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:16953827_16953828insC	ENST00000412962.1	-	0	477							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCACTTTCCTGCCCGAACCTCC	0.609																																						ENST00000412962.1																			0																																																			0							g.chr1:16953827_16953828insC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16953830_16953830dupC														0	477	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.609	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		11	408						11	408	---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	17914103	17914103	+	Frame_Shift_Del	DEL	C	C	-	rs201247982		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:17914103delC	ENST00000361221.3	+	3	345	c.186delC	c.(184-186)gacfs	p.D62fs	ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.D62fs|ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.D62fs|ARHGEF10L_ENST00000375420.3_5'Flank|ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.D62fs	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	62						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GGGACACAGACCCCCCACTGA	0.587																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(184-186)gafs		Rho guanine nucleotide exchange factor (GEF) 10-like			,	0,4266		0,0,2133	143.0	156.0	152.0		,	-0.6	0.0	1		152	1,8253		0,1,4126	no	frameshift,frameshift	ARHGEF10L	NM_018125.3,NM_001011722.2	,	0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,	17914103	1,12519	2203	4300	6503	SO:0001589	frameshift_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17914103delC	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.186delC	1.37:g.17914103delC	ENSP00000355060:p.Asp62fs					ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.D62fs|ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.D62fs|ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.D62fs	p.D62fs	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	3	345	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	62					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Frame_Shift_Del	DEL	ENST00000361221.3	37	c.186delC	CCDS182.1																																																																																				0.587	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		7	1452						7	1452	---	---	---	---
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	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_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	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		10	496						10	496	---	---	---	---
TCEB3	6924	broad.mit.edu	37	1	24078404	24078404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:24078404delA	ENST00000418390.2	+	4	1658	c.1387delA	c.(1387-1389)aaafs	p.K464fs	TCEB3_ENST00000609199.1_Frame_Shift_Del_p.K438fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	464					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.N439fs*19(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TAAAGGACTTAAAAAAAATGA	0.413											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418390.2																			1	Deletion - Frameshift(1)	p.N439fs*19(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1387-1389)aafs		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							70.0	83.0	79.0					1																	24078404		2195	4299	6494	SO:0001589	frameshift_variant	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24078404delA	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1387delA	1.37:g.24078404delA	ENSP00000395574:p.Lys464fs		OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.K464fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	1658	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	464					B2R7Q8|Q8IXH1	Frame_Shift_Del	DEL	ENST00000418390.2	37	c.1387delA	CCDS239.2																																																																																				0.413	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		9	1181						9	1181	---	---	---	---
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:38078467_38078469delTGC	ENST00000401069.1	-	7	1462_1464	c.750_752delGCA	c.(748-753)cagcaa>caa	p.250_251QQ>Q	RSPO1_ENST00000401068.1_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401071.2_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000356545.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401070.1_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000373059.1_In_Frame_Del_p.223_224QQ>Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(748-753)caa>ca		R-spondin 1			,,,	31,74,4091		12,0,7,2,70,2007					,,,	2.3	1.0			96	37,0,8137		16,0,5,0,0,4066	no	codingComplex,codingComplex,codingComplex,codingComplex	RSPO1	NM_001242910.1,NM_001242909.1,NM_001242908.1,NM_001038633.3	,,,	28,0,12,2,70,6073	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4527,2.5024,1.1479	,,,	,,,		68,74,12228				SO:0001651	inframe_deletion	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38078467_38078469delTGC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.750_752delGCA	1.37:g.38078476_38078478delTGC	ENSP00000383847:p.Gln251del					RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del	p.QQ250del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			8	1537_1539	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	250					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	In_Frame_Del	DEL	ENST00000401069.1	37	c.750_752delGCA	CCDS41304.1																																																																																				0.621	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		8	915						8	915	---	---	---	---
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406																																						ENST00000372766.3																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(43-45)tfs		transmembrane and coiled-coil domains 2																																				SO:0001589	frameshift_variant	127391					integral to membrane		g.chr1:40713708_40713709delTC	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.43_44delTC	1.37:g.40713718_40713719delTC	ENSP00000361852:p.Ser15fs					TMCO2_ENST00000468258.1_Intron	p.S15fs	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	136_137	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	15						Frame_Shift_Del	DEL	ENST00000372766.3	37	c.43_44delTC	CCDS30684.1																																																																																				0.406	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		16	1307						16	1307	---	---	---	---
ZMPSTE24	10269	broad.mit.edu	37	1	40756542	40756543	+	Frame_Shift_Ins	INS	-	-	T	rs553349565|rs137854889		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:40756542_40756543insT	ENST00000372759.3	+	9	1241_1242	c.1076_1077insT	c.(1075-1080)tgttttfs	p.CF359fs		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	359					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTTTCCTGTGTTTTTTTTTAT	0.332																																						ENST00000372759.3																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16						c.(1075-1077)tttfs		zinc metallopeptidase STE24				1,4261		0,1,2130				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		5.3	1.0		dbSNP_133	135	3,8249		0,3,4123	no	frameshift	ZMPSTE24	NM_005857.3		0,4,6253	A1A1,A1R,RR		0.0364,0.0235,0.032				4,12510				SO:0001589	frameshift_variant	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40756542_40756543insT	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.1085dupT	1.37:g.40756551_40756551dupT	ENSP00000361845:p.Cys359fs						p.F359fs	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		9	1241_1242	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	359					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Frame_Shift_Ins	INS	ENST00000372759.3	37	c.1076_1077insT	CCDS449.1																																																																																				0.332	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			8	440						8	440	---	---	---	---
MUTYH	4595	broad.mit.edu	37	1	45795066	45795066	+	Frame_Shift_Del	DEL	T	T	-	rs34961970		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:45795066delT	ENST00000372098.3	-	16	1686	c.1553delA	c.(1552-1554)aagfs	p.K518fs	MUTYH_ENST00000372115.3_Frame_Shift_Del_p.K507fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.K508fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.K504fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.K202fs|MUTYH_ENST00000528013.2_Frame_Shift_Del_p.K507fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.K188fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000450313.1_Frame_Shift_Del_p.K521fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.K494fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.K188fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.K504fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000531105.1_Frame_Shift_Del_p.K53fs			Q9UIF7	MUTYH_HUMAN	mutY homolog	518					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CATGCGGGGCTTTTTCCGACT	0.547			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													ENST00000450313.1			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19						c.(1561-1563)agfs	Base excision repair (BER), DNA glycosylases	mutY homolog							143.0	156.0	151.0					1																	45795066		2203	4300	6503	SO:0001589	frameshift_variant	4595	MUTYH-associated polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45795066delT	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1553delA	1.37:g.45795066delT	ENSP00000361170:p.Lys518fs					MUTYH_ENST00000372104.1_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.K504fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.K508fs|MUTYH_ENST00000372098.3_Frame_Shift_Del_p.K518fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.K494fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.K507fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.K188fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.K202fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.K188fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.K504fs|MUTYH_ENST00000531105.1_Frame_Shift_Del_p.K53fs	p.K521fs	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN			16	1777	-	Acute lymphoblastic leukemia(166;0.155)		518					D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Frame_Shift_Del	DEL	ENST00000372098.3	37	c.1562delA	CCDS520.1																																																																																				0.547	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		7	1551						7	1551	---	---	---	---
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)atafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	ENST00000370580.1				Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT		1	Insertion - Frameshift(1)	p.I46fs*4(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19						c.(136-138)tafs		B-cell CLL/lymphoma 10							83.0	90.0	87.0					1																	85736511		2203	4300	6503	SO:0001589	frameshift_variant	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85736511delT	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.136delA	1.37:g.85736511delT	ENSP00000359612:p.Ile46fs						p.I46fs	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	2	873	-			46			CARD.		Q5VUF1	Frame_Shift_Del	DEL	ENST00000370580.1	37	c.136delA	CCDS704.1																																																																																				0.343	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		12	602						12	602	---	---	---	---
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-	rs375773077		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000370389.2_In_Frame_Del_p.S575del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1699-1701)del		bromodomain, testis-specific																																				SO:0001651	inframe_deletion	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447228_92447230delAGC	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del					BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del	p.S575del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2623_2625	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	ENST00000362005.3	37	c.1699_1701delAGC	CCDS735.1																																																																																				0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		7	574						7	574	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	lincRNA	DEL	T	T	-	rs140223576		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:142713977delT	ENST00000610091.1	-	0	1681																											ATCCATATACTAAAAAGGTTA	0.294																																						ENST00000369381.2																			0																																																			0							g.chr1:142713977delT																													1.37:g.142713977delT														0	628	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.294	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			12	86						12	86	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G	rs368205479|rs371276355		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												tcgctcacgctggagctgtaga	0.535																																						ENST00000467933.1																			0																																																			0							g.chr1:144043905_144043906insG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144043907_144043907dupG														0	1108	+									RNA	INS	ENST00000467933.1	37																																																																																						0.535	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		14	104						14	104	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_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_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_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	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1540-1542)ccfs		B-cell CLL/lymphoma 9				35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091501delC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs						p.P517fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2280	+	all_hematologic(923;0.115)		517			Poly-Pro.|Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.1540delC	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		13	976						13	976	---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:150530506delG	ENST00000369038.2	+	12	2464	c.2263delG	c.(2263-2265)gggfs	p.G758fs	ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000271643.4_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_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs	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		11	829						11	829	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	GCT	-	rs58327065|rs367921715|rs572995536	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:154842200_154842202delGCT	ENST00000271915.4	-	1	554_556	c.239_241delAGC	c.(238-243)cagcca>cca	p.Q80del	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGATGCGGTGgctgctgctgctg	0.7																																						ENST00000271915.3																			2	Insertion - In frame(2)	p.Q80_P81insQQ(2)	prostate(2)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(238-243)cca>c		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154842200_154842202delGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.239_241delAGC	1.37:g.154842209_154842211delGCT	ENSP00000271915:p.Gln80del						p.QP80del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	554_556	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.239_241delAGC	CCDS30880.1																																																																																				0.700	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		21	63						21	63	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156626160	156626160	+	Frame_Shift_Del	DEL	G	G	-	rs571106745		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:156626160delG	ENST00000329117.5	+	9	2365	c.2029delG	c.(2029-2031)gggfs	p.G678fs	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	678	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGGCTATGGGGGGGACCT	0.622																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2029-2031)ggfs		brevican							84.0	76.0	79.0					1																	156626160		2203	4300	6503	SO:0001589	frameshift_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626160delG	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2029delG	1.37:g.156626160delG	ENSP00000331210:p.Gly678fs					RP11-284F21.7_ENST00000448869.1_RNA	p.G678fs	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			9	2365	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		678			EGF-like.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Frame_Shift_Del	DEL	ENST00000329117.5	37	c.2029delG	CCDS1149.1																																																																																				0.622	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		9	824						9	824	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)ctcfs	p.L289fs	ISG20L2_ENST00000472824.2_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557																																						ENST00000313146.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(865-867)tcfs		interferon stimulated exonuclease gene 20kDa-like 2							82.0	86.0	85.0					1																	156694023		2203	4300	6503	SO:0001589	frameshift_variant	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156694023delG	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.865delC	1.37:g.156694023delG	ENSP00000323424:p.Leu289fs					ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR	p.L289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN			2	1647	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		289			Exonuclease.		D3DVC6|Q64KA2	Frame_Shift_Del	DEL	ENST00000313146.6	37	c.865delC	CCDS1153.1																																																																																				0.557	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		13	712						13	712	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176762724	176762724	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:176762724delC	ENST00000367662.3	+	20	6213	c.5049delC	c.(5047-5049)atcfs	p.I1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGTGTAATCCCCCCCAGTG	0.468																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5047-5049)atfs		pappalysin 2							208.0	207.0	207.0					1																	176762724		1969	4150	6119	SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762724delC	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5049delC	1.37:g.176762724delC	ENSP00000356634:p.Ile1683fs						p.I1683fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			20	6213	+			1683			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Del	DEL	ENST00000367662.3	37	c.5049delC	CCDS41438.1																																																																																				0.468	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			9	505						9	505	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276524	186276526	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:186276524_186276526delAGG	ENST00000445192.2	+	7	1718_1720	c.1673_1675delAGG	c.(1672-1677)aaggag>aag	p.E559del	PRG4_ENST00000367486.3_In_Frame_Del_p.E516del|PRG4_ENST00000367483.4_In_Frame_Del_p.E518del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_In_Frame_Del_p.E466del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	559	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCACCACCAAGGAGCCTGCACC	0.635																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1672-1677)aag>a		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276524_186276526delAGG	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1673_1675delAGG	1.37:g.186276524_186276526delAGG	ENSP00000399679:p.Glu559del					PRG4_ENST00000367483.4_In_Frame_Del_p.KE517del|PRG4_ENST00000367485.4_In_Frame_Del_p.KE465del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.KE515del	p.KE558del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1718_1720	+			558			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1673_1675delAGG	CCDS1369.1																																																																																				0.635	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	1159						8	1159	---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-	rs143136196|rs376331360|rs189081489|rs539310988	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			1	Deletion - In frame(1)	p.E716delE(1)	liver(1)	NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2146-2151)gct>g		protein tyrosine phosphatase, non-receptor type 14																																				SO:0001651	inframe_deletion	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557049_214557051delCCT	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2147_2149delAGG	1.37:g.214557058_214557060delCCT	ENSP00000355923:p.Glu716del					PTPN14_ENST00000543945.1_3'UTR	p.EA716del	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2341_2343	-			716			Poly-Glu.		Q5VSI0	In_Frame_Del	DEL	ENST00000366956.5	37	c.2147_2149delAGG	CCDS1514.1																																																																																				0.626	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		20	398						20	398	---	---	---	---
WNT9A	7483	broad.mit.edu	37	1	228111953	228111954	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:228111953_228111954insC	ENST00000272164.5	-	3	510_511	c.500_501insG	c.(499-501)ggcfs	p.G167fs		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	167					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.G167fs*38(1)|p.C168fs*6(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGTCTCCGCAGCCCCCCCACTG	0.629																																						ENST00000272164.5																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.G167fs*38(1)|p.C168fs*6(1)	large_intestine(1)|pancreas(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(499-501)gtgfs		wingless-type MMTV integration site family, member 9A																																				SO:0001589	frameshift_variant	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228111953_228111954insC	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.501dupG	1.37:g.228111960_228111960dupC	ENSP00000272164:p.Gly167fs					WNT9A_ENST00000497852.1_Intron	p.V167fs	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN			3	510_511	-		Prostate(94;0.0405)	167					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Frame_Shift_Ins	INS	ENST00000272164.5	37	c.500_501insG	CCDS31045.1																																																																																				0.629	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		7	976						7	976	---	---	---	---
AGT	183	broad.mit.edu	37	1	230839055	230839055	+	Frame_Shift_Del	DEL	A	A	-	rs387906578		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:230839055delA	ENST00000366667.4	-	5	1504	c.1290delT	c.(1288-1290)tttfs	p.F430fs		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	430					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTTCAAGCTCAAAAAAAATGC	0.562																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	GRCh37	CD065661	AGT	D		c.(1288-1290)ttfs		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						96.0	93.0	94.0					1																	230839055		2203	4300	6503	SO:0001589	frameshift_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230839055delA	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1290delT	1.37:g.230839055delA	ENSP00000355627:p.Phe430fs						p.F430fs	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	5	1504	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	430					Q16358|Q16359|Q96F91	Frame_Shift_Del	DEL	ENST00000366667.4	37	c.1290delT	CCDS1585.1																																																																																				0.562	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		7	569						7	569	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:17898126delT	ENST00000448223.2	-	14	1497	c.1228delA	c.(1228-1230)atafs	p.I410fs	SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	410					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1228-1230)tafs		structural maintenance of chromosomes 6							82.0	78.0	80.0					2																	17898126		2203	4297	6500	SO:0001589	frameshift_variant	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17898126delT	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1228delA	2.37:g.17898126delT	ENSP00000404092:p.Ile410fs					SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs	p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			14	1497	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		410					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Frame_Shift_Del	DEL	ENST00000448223.2	37	c.1228delA	CCDS1690.1																																																																																				0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		11	279						11	279	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-	rs199521315|rs372484063|rs199910361	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		10	580						10	580	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54093344	54093345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:54093344_54093345insT	ENST00000404125.1	-	46	5468_5469	c.5413_5414insA	c.(5413-5415)accfs	p.T1805fs	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Frame_Shift_Ins_p.T949fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1805					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.T1691fs*>39(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATTGGATAAGGTTTTTTTTACA	0.401																																						ENST00000404125.1																			1	Deletion - Frameshift(1)	p.T1691fs*>39(1)	ovary(1)	breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5413-5415)cttfs		proteasome (prosome, macropain) activator subunit 4																																				SO:0001589	frameshift_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54093344_54093345insT	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5414dupA	2.37:g.54093352_54093352dupT	ENSP00000384211:p.Thr1805fs					PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs|PSME4_ENST00000476586.1_5'UTR	p.L1805fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		46	5468_5469	-			1805					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Frame_Shift_Ins	INS	ENST00000404125.1	37	c.5413_5414insA	CCDS33197.2																																																																																				0.401	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		10	635						10	635	---	---	---	---
HTRA2	27429	broad.mit.edu	37	2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs|HTRA2_ENST00000467961.1_Intron|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(52-54)ggcfs		HtrA serine peptidase 2																																				SO:0001589	frameshift_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757185_74757186insG		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.55dupG	2.37:g.74757188_74757188dupG	ENSP00000258080:p.Arg18fs					HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs	p.G18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			1	682_683	+			18					Q9HBZ4|Q9P0Y3|Q9P0Y4	Frame_Shift_Ins	INS	ENST00000258080.3	37	c.52_53insG	CCDS1951.1																																																																																				0.718	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		39	369						39	369	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91887904	91887905	+	RNA	INS	-	-	T	rs374250838|rs373336109|rs369805878|rs199562278	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:91887904_91887905insT	ENST00000436174.1	-	0	540																											AGCTATTTTCCATTTTTTTTTT	0.292																																						ENST00000436174.1																			0																																																			0							g.chr2:91887904_91887905insT																													2.37:g.91887904_91887905insT														0	540	-									RNA	INS	ENST00000436174.1	37																																																																																						0.292	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			9	339						9	339	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		12	696						12	696	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)caafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2386-2388)cafs		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							43.0	37.0	39.0					2																	103149137		2203	4300	6503	SO:0001589	frameshift_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149137delA		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2387delA	2.37:g.103149137delA	ENSP00000295269:p.Gln796fs						p.Q796fs	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			12	2844	+			796					Q69YK0	Frame_Shift_Del	DEL	ENST00000295269.4	37	c.2387delA	CCDS33264.1																																																																																				0.473	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		7	263						7	263	---	---	---	---
ERMN	57471	broad.mit.edu	37	2	158178062	158178064	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:158178062_158178064delATC	ENST00000410096.1	-	3	865_867	c.574_576delGAT	c.(574-576)gatdel	p.D192del	ERMN_ENST00000420719.2_In_Frame_Del_p.D172del|ERMN_ENST00000397283.2_In_Frame_Del_p.D205del|ERMN_ENST00000535935.1_In_Frame_Del_p.D86del	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	192	Poly-Asp.				actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						tattgcaattatcatcatcatca	0.365																																						ENST00000410096.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(574-576)del		ermin, ERM-like protein																																				SO:0001651	inframe_deletion	57471					cytoplasm|cytoskeleton		g.chr2:158178062_158178064delATC	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.574_576delGAT	2.37:g.158178071_158178073delATC	ENSP00000387047:p.Asp192del					ERMN_ENST00000535935.1_In_Frame_Del_p.D86del|ERMN_ENST00000397283.2_In_Frame_Del_p.D205del|ERMN_ENST00000420719.2_In_Frame_Del_p.D172del	p.D192del	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN			3	865_867	-			192			Poly-Asp.		B4DKA6|Q9ULN1	In_Frame_Del	DEL	ENST00000410096.1	37	c.574_576delGAT	CCDS46431.1																																																																																				0.365	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		9	709						9	709	---	---	---	---
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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		8	398						8	398	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			9	30						9	30	---	---	---	---
HIBCH	26275	broad.mit.edu	37	2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:191161629delT	ENST00000359678.5	-	3	423	c.129delA	c.(127-129)aaafs	p.K43fs	HIBCH_ENST00000392332.3_Frame_Shift_Del_p.K43fs	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(127-129)aafs		3-hydroxyisobutyryl-CoA hydrolase							116.0	104.0	108.0					2																	191161629		2203	4300	6503	SO:0001589	frameshift_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161629delT	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.129delA	2.37:g.191161629delT	ENSP00000352706:p.Lys43fs					HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs	p.K43fs			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	268	-			43					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Frame_Shift_Del	DEL	ENST00000359678.5	37	c.129delA	CCDS2304.1																																																																																				0.353	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			7	330						7	330	---	---	---	---
GTF3C3	9330	broad.mit.edu	37	2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:197649613_197649614insT	ENST00000263956.3	-	8	1170_1171	c.1081_1082insA	c.(1081-1083)actfs	p.T361fs	GTF3C3_ENST00000470386.1_5'Flank|GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.T361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	361					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCTTCTGAAGTTTTTTTTTCC	0.337																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1081-1083)ttcfs		general transcription factor IIIC, polypeptide 3, 102kDa																																				SO:0001589	frameshift_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197649613_197649614insT	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1082dupA	2.37:g.197649622_197649622dupT	ENSP00000263956:p.Thr361fs					GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs	p.F361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			8	1170_1171	-			361					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Frame_Shift_Ins	INS	ENST00000263956.3	37	c.1081_1082insA	CCDS2316.1																																																																																				0.337	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			10	268						10	268	---	---	---	---
ALS2CR11	151254	broad.mit.edu	37	2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:202352352delT	ENST00000286195.3	-	15	1899	c.1855delA	c.(1855-1857)attfs	p.I619fs	ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.I1816fs|ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439802.1_3'UTR	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(5446-5448)ttfs		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							97.0	96.0	96.0					2																	202352352		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202352352delT	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1855delA	2.37:g.202352352delT	ENSP00000286195:p.Ile619fs					ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs	p.I1816fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			16	5490	-			619					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.5446delA	CCDS2349.1																																																																																				0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		11	570						11	570	---	---	---	---
CRYGA	1418	broad.mit.edu	37	2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:209025577delC	ENST00000304502.4	-	3	495	c.476delG	c.(475-477)ggtfs	p.G159fs		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	159	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GGCATCTGCACCCCCCCAGTC	0.532																																						ENST00000304502.4																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12						c.(475-477)gtfs		crystallin, gamma A							79.0	86.0	84.0					2																	209025577		2203	4300	6503	SO:0001589	frameshift_variant	1418							g.chr2:209025577delC		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.476delG	2.37:g.209025577delC	ENSP00000302105:p.Gly159fs						p.G159fs	NM_014617.3	NP_055432.2				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	3	495	-								Q53ST5	Frame_Shift_Del	DEL	ENST00000304502.4	37	c.476delG	CCDS33367.1																																																																																				0.532	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		11	895						11	895	---	---	---	---
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gctfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(589-591)gcfs		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							305.0	318.0	314.0					2																	219252307		2203	4300	6503	SO:0001589	frameshift_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219252307delT	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.591delT	2.37:g.219252307delT	ENSP00000233202:p.Ala197fs					SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	p.A197fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	931	+		Renal(207;0.0474)	197					C0H5Y3	Frame_Shift_Del	DEL	ENST00000233202.6	37	c.591delT	CCDS2415.1																																																																																				0.448	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		8	2616						8	2616	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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		12	550						12	550	---	---	---	---
TATDN2	9797	broad.mit.edu	37	3	10291121	10291123	+	In_Frame_Del	DEL	CTC	CTC	-	rs377423264		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:10291121_10291123delCTC	ENST00000287652.4	+	2	1288_1290	c.237_239delCTC	c.(235-240)aactcc>aac	p.S83del	TATDN2_ENST00000448281.2_In_Frame_Del_p.S83del|RP11-438J1.1_ENST00000450534.1_In_Frame_Del_p.S26del	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	83					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GCAGAAATAACTCCTCCTCCTCC	0.635																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(235-240)aac>aa		TatD DNase domain containing 2																																				SO:0001651	inframe_deletion	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10291121_10291123delCTC	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.237_239delCTC	3.37:g.10291130_10291132delCTC	ENSP00000287652:p.Ser83del					TATDN2_ENST00000448281.2_In_Frame_Del_p.NS79del|RP11-438J1.1_ENST00000450534.1_In_Frame_Del_p.NS22del	p.NS79del	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			2	1288_1290	+			79					Q3MIL9|Q5BKU0	In_Frame_Del	DEL	ENST00000287652.4	37	c.237_239delCTC	CCDS33698.1																																																																																				0.635	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		8	1634						8	1634	---	---	---	---
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:12790198_12790200delGAG	ENST00000314124.7	-	3	521_523	c.165_167delCTC	c.(163-168)tcctct>tct	p.55_56SS>S	TMEM40_ENST00000431022.2_In_Frame_Del_p.71_72SS>S|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000264728.8_In_Frame_Del_p.55_56SS>S	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	55	Ser-rich.			S -> F (in Ref. 1; BAA91967). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(163-168)tct>tc		transmembrane protein 40																																				SO:0001651	inframe_deletion	55287					integral to membrane		g.chr3:12790198_12790200delGAG	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.165_167delCTC	3.37:g.12790207_12790209delGAG	ENSP00000322837:p.Ser70del					TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del	p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	521_523	-			69			Ser-rich.		C9JID5|Q8NAL4|Q9NUZ4	In_Frame_Del	DEL	ENST00000314124.7	37	c.165_167delCTC	CCDS2613.1																																																																																				0.419	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		8	1280						8	1280	---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18391133	18391135	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:18391133_18391135delCTG	ENST00000338745.6	-	11	3553_3555	c.1819_1821delCAG	c.(1819-1821)cagdel	p.Q607del	SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del|SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	607	Poly-Gln.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCGGCGGTGCctgctgctgctgc	0.606																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1819-1821)del		SATB homeobox 1			,,	7,190,3727		2,0,3,5,180,1772					,,	-1.4	0.0			13	18,388,7346		2,0,14,7,374,3479	no	codingComplex,codingComplex,codingComplex	SATB1	NM_002971.4,NM_001195470.1,NM_001131010.2	,,	4,0,17,12,554,5251	A1A1,A1A2,A1R,A2A2,A2R,RR		5.2374,5.0204,5.1644	,,	,,		25,578,11073				SO:0001651	inframe_deletion	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18391133_18391135delCTG		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1819_1821delCAG	3.37:g.18391142_18391144delCTG	ENSP00000341024:p.Gln607del					SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del|SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del|TBC1D5_ENST00000414318.2_Intron	p.Q607del	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			11	3553_3555	-			607			Poly-Gln.		B3KXF1|C9JTR6|Q59EQ0	In_Frame_Del	DEL	ENST00000338745.6	37	c.1819_1821delCAG	CCDS2631.1																																																																																				0.606	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		12	158						12	158	---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42242450	42242450	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:42242450delC	ENST00000327628.5	+	12	1731	c.1331delC	c.(1330-1332)accfs	p.T444fs	TRAK1_ENST00000449246.1_Frame_Shift_Del_p.T370fs|TRAK1_ENST00000396175.1_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000341421.3_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	444	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGCGTCAGCACCCCCCGGTCC	0.592																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1330-1332)acfs		trafficking protein, kinesin binding 1							117.0	110.0	112.0					3																	42242450		2203	4300	6503	SO:0001589	frameshift_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42242450delC		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1331delC	3.37:g.42242450delC	ENSP00000328998:p.Thr444fs					TRAK1_ENST00000341421.3_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000396175.1_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Frame_Shift_Del_p.T370fs	p.T444fs	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			12	1731	+			444			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Frame_Shift_Del	DEL	ENST00000327628.5	37	c.1331delC	CCDS43072.1																																																																																				0.592	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		9	951						9	951	---	---	---	---
LIMD1	8994	broad.mit.edu	37	3	45636543	45636545	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:45636543_45636545delCAG	ENST00000273317.4	+	1	193_195	c.172_174delCAG	c.(172-174)cagdel	p.Q63del	AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	63	Mediates nuclear export.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AATCCACCTCCAGCAGCAGCAGC	0.626																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(172-174)del		LIM domains containing 1																																				SO:0001651	inframe_deletion	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636543_45636545delCAG	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.172_174delCAG	3.37:g.45636552_45636554delCAG	ENSP00000273317:p.Gln63del					LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del	p.Q63del	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	193_195	+			63			Mediates nuclear export.		Q17RQ1|Q9BQQ9|Q9NQ47	In_Frame_Del	DEL	ENST00000273317.4	37	c.172_174delCAG	CCDS2729.1																																																																																				0.626	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		9	318						9	318	---	---	---	---
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		9	517						9	517	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723112	49723112	+	IGR	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank	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)		CCCATCTGGGTTCCGGCAGAA	0.587																																						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.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43.0	42.0	43.0					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	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.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	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)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			12	393						12	393	---	---	---	---
PARP3	10039	broad.mit.edu	37	3	51978150	51978152	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:51978150_51978152delAAC	ENST00000417220.2	+	4	717_719	c.229_231delAAC	c.(229-231)aacdel	p.N80del	PARP3_ENST00000398755.3_In_Frame_Del_p.N87del|PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|RRP9_ENST00000232888.6_5'Flank			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	80				N -> K (in Ref. 2; AAD29855). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAACATCGAGAACAACAACAACA	0.596																																						ENST00000417220.2																			0				ovary(1)	1						c.(229-231)del		poly (ADP-ribose) polymerase family, member 3			,	10,3992		5,0,1996					,	-7.6	0.0			201	34,8036		15,4,4016	no	coding,coding	PARP3	NM_005485.4,NM_001003931.2	,	20,4,6012	A1A1,A1R,RR		0.4213,0.2499,0.3645	,	,		44,12028				SO:0001651	inframe_deletion	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51978150_51978152delAAC	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.229_231delAAC	3.37:g.51978159_51978161delAAC	ENSP00000395951:p.Asn80del					PARP3_ENST00000398755.3_In_Frame_Del_p.N87del|PARP3_ENST00000431474.1_In_Frame_Del_p.N80del	p.N80del			Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	717_719	+			80	N -> K (in Ref. 2; AAD29855).				Q8NER9|Q96CG2|Q9UG81	In_Frame_Del	DEL	ENST00000417220.2	37	c.229_231delAAC	CCDS43097.1																																																																																				0.596	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		8	1592						8	1592	---	---	---	---
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:53220653delG	ENST00000394729.2	+	13	1622	c.1294delG	c.(1294-1296)gggfs	p.G433fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	433	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GTTCCTCAACGGGGGGGACCT	0.602																																						ENST00000394729.2																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1294-1296)ggfs		protein kinase C, delta							215.0	220.0	218.0					3																	53220653		2203	4300	6503	SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220653delG		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1294delG	3.37:g.53220653delG	ENSP00000378217:p.Gly433fs					PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	13	1622	+		Ovarian(412;0.0728)	433			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Del	DEL	ENST00000394729.2	37	c.1294delG	CCDS2870.1																																																																																				0.602	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			8	2276						8	2276	---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71247357	71247359	+	In_Frame_Del	DEL	TGC	TGC	-	rs370638902		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:71247357_71247359delTGC	ENST00000318789.4	-	6	699_701	c.174_176delGCA	c.(172-177)cagcaa>caa	p.58_59QQ>Q	FOXP1_ENST00000475937.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000318779.3_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000493089.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000468577.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000484350.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000498215.1_In_Frame_Del_p.58_59QQ>Q	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	58	Gln-rich.	Breakpoint for translocation to form PAX5-FOXP1.			negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CAGTACCTGTTGCTGCTGCTGCT	0.586			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(172-177)caa>ca		forkhead box P1																																				SO:0001651	inframe_deletion	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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.chr3:71247357_71247359delTGC	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.174_176delGCA	3.37:g.71247366_71247368delTGC	ENSP00000318902:p.Gln60del					FOXP1_ENST00000498215.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000475937.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000468577.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000493089.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000484350.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000318779.3_In_Frame_Del_p.QQ58del	p.QQ58del	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	6	699_701	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	58			Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	In_Frame_Del	DEL	ENST00000318789.4	37	c.174_176delGCA	CCDS2914.1																																																																																				0.586	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		11	608						11	608	---	---	---	---
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:129268107_129268108insA	ENST00000324382.2	+	3	647_648	c.642_643insA	c.(643-645)aggfs	p.R215fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.R76fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	215					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653																																						ENST00000324382.2																			0				endometrium(1)|lung(4)|skin(1)	6						c.(640-645)gcggaafs		H1 histone family, member O, oocyte-specific																																				SO:0001589	frameshift_variant	132243				meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	g.chr3:129268107_129268108insA	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"""Histones / Replication-independent"""	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.643dupA	3.37:g.129268108_129268108dupA	ENSP00000319799:p.Arg215fs					H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs	p.E215fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN			3	647_648	+			215					Q86WT7	Frame_Shift_Ins	INS	ENST00000324382.2	37	c.642_643insA	CCDS3064.1																																																																																				0.653	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3	NM_153833		8	106						8	106	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		9	302						9	302	---	---	---	---
NEK11	79858	broad.mit.edu	37	3	130881254	130881254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:130881254delA	ENST00000510769.1	+	7	903	c.650delA	c.(649-651)caafs	p.Q217fs	NEK11_ENST00000412440.2_Frame_Shift_Del_p.Q174fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000383366.4_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000511262.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.Q322fs					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATTTATAGGCAAAAAAGGATC	0.423																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(964-966)cafs		NIMA-related kinase 11							143.0	167.0	158.0					3																	130881254		2203	4300	6503	SO:0001589	frameshift_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130881254delA	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.650delA	3.37:g.130881254delA	ENSP00000421549:p.Gln217fs					NEK11_ENST00000510688.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000510769.1_Frame_Shift_Del_p.Q217fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.Q174fs|NEK11_ENST00000511262.1_Frame_Shift_Del_p.Q322fs	p.Q322fs	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			11	1258	+			322						Frame_Shift_Del	DEL	ENST00000510769.1	37	c.965delA																																																																																					0.423	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		8	1826						8	1826	---	---	---	---
IL12A-AS1	101928376	broad.mit.edu	37	3	159820697	159820698	+	RNA	INS	-	-	A	rs527889186|rs113756526	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:159820697_159820698insA	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		TTGGAacagtgaaaaaaaaaag	0.277													|||unknown(HR)	612	0.122204	0.261	0.0533	5008	,	,		18975	0.0923		0.0815	False		,,,				2504	0.0562					ENST00000497452.1																			0																																																			0							g.chr3:159820697_159820698insA	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159820707_159820707dupA														0	517	-									RNA	INS	ENST00000497452.1	37																																																																																						0.277	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			13	41						13	41	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)accatc>atc	p.T23del	PHC3_ENST00000497658.1_In_Frame_Del_p.T35del|PHC3_ENST00000467570.1_In_Frame_Del_p.T35del|PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000495893.2_In_Frame_Del_p.T35del|PHC3_ENST00000481639.1_In_Frame_Del_p.T35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(67-72)atc>a		polyhomeotic homolog 3 (Drosophila)				6,3998		2,2,1998						3.6	1.0			276	21,8059		10,1,4029	no	coding	PHC3	NM_024947.3		12,3,6027	A1A1,A1R,RR		0.2599,0.1499,0.2234				27,12057				SO:0001651	inframe_deletion	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169896635_169896637delTGG		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.68_70delCCA	3.37:g.169896644_169896646delTGG	ENSP00000420271:p.Thr23del					PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del	p.TI23del			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		2	136_138	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		23			Poly-Thr.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	In_Frame_Del	DEL	ENST00000494943.1	37	c.68_70delCCA																																																																																					0.493	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		8	1709						8	1709	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	247254	247255	+	RNA	DEL	TA	TA	-	rs139373828|rs535526044	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:247254_247255delTA	ENST00000356347.3	+	0	172					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTTGTATAAGTATATATATATT	0.287														1478	0.295128	0.3759	0.3314	5008	,	,		16713	0.1518		0.2207	False		,,,				2504	0.3845					ENST00000356347.3																			0																																																			0							g.chr4:247254_247255delTA	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.247262_247263delTA								NR_027481.1						0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.287	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		24	22						24	22	---	---	---	---
PDE6B	5158	broad.mit.edu	37	4	661763	661765	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:661763_661765delAGG	ENST00000496514.1	+	21	2492_2494	c.2471_2473delAGG	c.(2470-2475)aaggag>aag	p.E828del	PDE6B_ENST00000255622.6_In_Frame_Del_p.E828del|PDE6B_ENST00000429163.2_In_Frame_Del_p.E549del			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	828					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CTGGAGGAGAAGGAGGAGGAGGA	0.562																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(2470-2475)aag>a		phosphodiesterase 6B, cGMP-specific, rod, beta																																				SO:0001651	inframe_deletion	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:661763_661765delAGG	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2471_2473delAGG	4.37:g.661772_661774delAGG	ENSP00000420295:p.Glu828del					PDE6B_ENST00000496514.1_In_Frame_Del_p.KE824del|PDE6B_ENST00000429163.2_In_Frame_Del_p.KE545del	p.KE824del	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			21	2514_2516	+			824					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	In_Frame_Del	DEL	ENST00000496514.1	37	c.2471_2473delAGG	CCDS33932.1																																																																																				0.562	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		12	957						12	957	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389083	1389084	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:1389083_1389084insCA	ENST00000324803.4	+	1	3744_3745	c.784_785insCA	c.(784-786)tcafs	p.S262fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	262					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACACGTGCCC	0.693																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(784-786)acafs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389083_1389084insCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.787_788dupCA	4.37:g.1389086_1389087dupCA	ENSP00000323978:p.Ser262fs						p.T262fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3744_3745	+			262					Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.784_785insCA	CCDS3349.1																																																																																				0.693	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		10	1044						10	1044	---	---	---	---
TLR10	81793	broad.mit.edu	37	4	38774955	38774956	+	Frame_Shift_Ins	INS	-	-	T	rs564674109		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:38774955_38774956insT	ENST00000308973.4	-	4	2861_2862	c.2256_2257insA	c.(2254-2259)aaagcafs	p.A753fs	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Frame_Shift_Ins_p.A753fs|TLR10_ENST00000508334.1_Frame_Shift_Ins_p.A753fs|TLR10_ENST00000506111.1_Frame_Shift_Ins_p.A753fs	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	753	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						TCCAAGTATGCTTTTTTTTCCA	0.386																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(2254-2259)aacatafs		toll-like receptor 10			,,,,	1,4265		0,1,2132					,,,,	2.5	0.0			82	0,8254		0,0,4127	no	frameshift,frameshift,frameshift,frameshift,frameshift	TLR10	NM_030956.3,NM_001195108.1,NM_001195107.1,NM_001195106.1,NM_001017388.2	,,,,	0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080	,,,,	,,,,		1,12519				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.chr4:38774955_38774956insT	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.2257dupA	4.37:g.38774963_38774963dupT	ENSP00000308925:p.Ala753fs					TLR10_ENST00000506111.1_Frame_Shift_Ins_p.NI752fs|TLR10_ENST00000361424.2_Frame_Shift_Ins_p.NI752fs|TLR10_ENST00000508334.1_Frame_Shift_Ins_p.NI752fs	p.NI752fs	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	2861_2862	-			752			TIR.		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Frame_Shift_Ins	INS	ENST00000308973.4	37	c.2256_2257insA	CCDS3445.1																																																																																				0.386	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			7	580						7	580	---	---	---	---
AASDH	132949	broad.mit.edu	37	4	57220269	57220269	+	Frame_Shift_Del	DEL	A	A	-	rs148777026		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:57220269delA	ENST00000205214.6	-	8	1499	c.1319delT	c.(1318-1320)ttgfs	p.L440fs	AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000602986.1_Frame_Shift_Del_p.L287fs|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Frame_Shift_Del_p.L440fs|AASDH_ENST00000513376.1_Frame_Shift_Del_p.L340fs|AASDH_ENST00000451613.1_Frame_Shift_Del_p.L440fs	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	440					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.?(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTTCGTCCCAAAAAAAAAAT	0.363																																						ENST00000205214.6																			1	Unknown(1)	p.?(1)	skin(1)	endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(1318-1320)tgfs		aminoadipate-semialdehyde dehydrogenase																																				SO:0001589	frameshift_variant	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57220269delA	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1319delT	4.37:g.57220269delA	ENSP00000205214:p.Leu440fs					AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Frame_Shift_Del_p.L440fs|AASDH_ENST00000451613.1_Frame_Shift_Del_p.L440fs|AASDH_ENST00000513376.1_Frame_Shift_Del_p.L340fs|AASDH_ENST00000602986.1_Frame_Shift_Del_p.L287fs	p.L440fs	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			8	1499	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	440					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Frame_Shift_Del	DEL	ENST00000205214.6	37	c.1319delT	CCDS3504.1																																																																																				0.363	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		19	393						19	393	---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83745800	83745800	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:83745800delT	ENST00000395310.2	-	25	3501	c.3319delA	c.(3319-3321)attfs	p.I1107fs	SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.I1120fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1107	Interaction with PDCD6.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCTTGGTAATTTTTTTTGTT	0.388																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(3358-3360)ttfs		SEC31 homolog A (S. cerevisiae)							147.0	145.0	145.0					4																	83745800		2203	4300	6503	SO:0001589	frameshift_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83745800delT	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3319delA	4.37:g.83745800delT	ENSP00000378721:p.Ile1107fs					SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I1107fs	p.I1120fs			O94979	SC31A_HUMAN			26	3521	-		Hepatocellular(203;0.114)	1107					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	ENST00000395310.2	37	c.3358delA	CCDS3596.1																																																																																				0.388	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		8	378						8	378	---	---	---	---
CDS1	1040	broad.mit.edu	37	4	85556474	85556475	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:85556474_85556475insT	ENST00000295887.5	+	8	1203_1204	c.780_781insT	c.(781-783)tttfs	p.F261fs		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.G260G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ACCTTTTTGGATTTTTTTTTGG	0.307																																						ENST00000295887.5																			1	Substitution - coding silent(1)	p.G260G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(778-783)ggttttfs		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1																																				SO:0001589	frameshift_variant	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85556474_85556475insT	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.789dupT	4.37:g.85556483_85556483dupT	ENSP00000295887:p.Phe261fs						p.GF260fs	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	8	1203_1204	+		Hepatocellular(203;0.114)	260					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Frame_Shift_Ins	INS	ENST00000295887.5	37	c.780_781insT	CCDS3608.1																																																																																				0.307	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			19	606						19	606	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85611708	85611709	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:85611708_85611709delCA	ENST00000295888.4	-	61	9720_9721	c.9313_9314delTG	c.(9313-9315)tggfs	p.W3105fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.W3088fs|RN7SL552P_ENST00000462094.2_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3105	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCCCATCTCCCACACACACACA	0.51																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9262-9264)gfs		WD repeat and FYVE domain containing 3																																				SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85611708_85611709delCA	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9313_9314delTG	4.37:g.85611718_85611719delCA	ENSP00000295888:p.Trp3105fs					WDFY3_ENST00000295888.4_Frame_Shift_Del_p.W3105fs	p.W3088fs			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	60	9669_9670	-		Hepatocellular(203;0.114)	3105					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	c.9262_9263delTG	CCDS3609.1																																																																																				0.510	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		8	490						8	490	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85741302	85741302	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:85741302delT	ENST00000295888.4	-	12	2036	c.1629delA	c.(1627-1629)aaafs	p.K543fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.K543fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	543					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAGCCAGGTGTTTTTGGTCTT	0.353																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1627-1629)aafs		WD repeat and FYVE domain containing 3							182.0	195.0	190.0					4																	85741302		2203	4300	6503	SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85741302delT	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1629delA	4.37:g.85741302delT	ENSP00000295888:p.Lys543fs					WDFY3_ENST00000295888.4_Frame_Shift_Del_p.K543fs	p.K543fs			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	12	2036	-		Hepatocellular(203;0.114)	543					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	c.1629delA	CCDS3609.1																																																																																				0.353	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		7	1526						7	1526	---	---	---	---
MMRN1	22915	broad.mit.edu	37	4	90844391	90844393	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:90844391_90844393delAGC	ENST00000394980.1	+	5	1242_1244	c.923_925delAGC	c.(922-927)gagcag>gag	p.Q313del	MMRN1_ENST00000264790.2_In_Frame_Del_p.Q313del|MMRN1_ENST00000394981.1_In_Frame_Del_p.Q279del|MMRN1_ENST00000508372.1_In_Frame_Del_p.Q55del			Q13201	MMRN1_HUMAN	multimerin 1	313	Poly-Gln.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGAGTAGCTGAGCAGCAGCAGCA	0.448																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(922-927)gag>g		multimerin 1																																				SO:0001651	inframe_deletion	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90844391_90844393delAGC	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.923_925delAGC	4.37:g.90844400_90844402delAGC	ENSP00000378431:p.Gln313del					MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del	p.EQ308del			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	5	1242_1244	+		Hepatocellular(203;0.114)	308					Q4W5L1|Q6P3T8|Q6ZUL9	In_Frame_Del	DEL	ENST00000394980.1	37	c.923_925delAGC	CCDS3635.1																																																																																				0.448	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		7	1490						7	1490	---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119745872	119745873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:119745872_119745873insG	ENST00000280551.6	-	3	388_389	c.150_151insC	c.(148-153)gccaccfs	p.T51fs	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Frame_Shift_Ins_p.T51fs			O94855	SC24D_HUMAN	SEC24 family member D	51	Pro-rich.				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)|in utero embryonic development (GO:0001701)|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(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTAGTGGCGGTGGCCCCCAAAG	0.54																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(148-153)gcccgcfs		SEC24 family member D																																				SO:0001589	frameshift_variant	9871				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	zinc ion binding	g.chr4:119745872_119745873insG	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.151dupC	4.37:g.119745874_119745874dupG	ENSP00000280551:p.Thr51fs					SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.R51fs	p.R51fs	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			3	421_422	-			51			Pro-rich.		Q8IYI7	Frame_Shift_Ins	INS	ENST00000280551.6	37	c.150_151insC	CCDS3710.1																																																																																				0.540	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			7	953						7	953	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:123302211delA	ENST00000296513.2	+	4	422	c.237delA	c.(235-237)ccafs	p.P79fs	ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	79					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(235-237)ccfs		adenosine deaminase domain containing 1 (testis-specific)							63.0	70.0	68.0					4																	123302211		2202	4300	6502	SO:0001589	frameshift_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123302211delA	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.237delA	4.37:g.123302211delA	ENSP00000296513:p.Pro79fs					ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000492454.1_3'UTR	p.P79fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			4	422	+			79					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Frame_Shift_Del	DEL	ENST00000296513.2	37	c.237delA	CCDS34058.1																																																																																				0.358	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		11	473						11	473	---	---	---	---
EEF1GP8	391698	broad.mit.edu	37	4	130824738	130824738	+	lincRNA	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:130824738delC	ENST00000513875.1	+	0	1264																											TAAGCAGTAGCCCCAGGCTGA	0.532																																						ENST00000513875.1																			0																																																			0							g.chr4:130824738delC																													4.37:g.130824738delC														0	1264	+									RNA	DEL	ENST00000513875.1	37																																																																																						0.532	RP11-422J15.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000364127.1			20	47						20	47	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183609359	183609359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:183609359delG	ENST00000511685.1	+	12	2199	c.2076delG	c.(2074-2076)atgfs	p.M692fs	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	692	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCGTTTGCATGGGGGGGACGT	0.592																																						ENST00000511685.1																			0											c.(2074-2076)atfs		teneurin transmembrane protein 3							109.0	116.0	113.0					4																	183609359		1969	4158	6127	SO:0001589	frameshift_variant	55714							g.chr4:183609359delG	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2076delG	4.37:g.183609359delG	ENSP00000424226:p.Met692fs					TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs|TENM3_ENST00000502950.1_3'UTR	p.M692fs							12	2199	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Del	DEL	ENST00000511685.1	37	c.2076delG	CCDS47165.1																																																																																				0.592	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			7	1055						7	1055	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaagaa>aaa	p.E86del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	86					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)		GCTCCACACAAAGAAGGTTTGTG	0.414																																						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.(253-258)aaa>a		FSHD region gene 1				24,4216		0,24,2096						3.5	1.0		dbSNP_134	78	47,8181		0,47,4067	no	coding	FRG1	NM_004477.2		0,71,6163	A1A1,A1R,RR		0.5712,0.566,0.5695				71,12397				SO:0001651	inframe_deletion	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190873437_190873439delAAG	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.254_256delAAG	4.37:g.190873440_190873442delAAG	ENSP00000226798:p.Glu86del					FRG1_ENST00000514482.1_3'UTR	p.KE85del	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)	3	476_478	+		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)	85					A8K775	In_Frame_Del	DEL	ENST00000226798.4	37	c.254_256delAAG	CCDS34121.1																																																																																				0.414	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		10	1012						10	1012	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14399056	14399056	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:14399056delA	ENST00000344204.4	+	30	4515	c.4491delA	c.(4489-4491)ccafs	p.P1497fs	TRIO_ENST00000537187.1_Frame_Shift_Del_p.P1497fs|TRIO_ENST00000509967.2_Frame_Shift_Del_p.P1448fs	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1497	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|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)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGTGGGACCCAAAAACCTTAA	0.403																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(4489-4491)ccfs		trio Rho guanine nucleotide exchange factor							125.0	132.0	129.0					5																	14399056		2203	4300	6503	SO:0001589	frameshift_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14399056delA	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4491delA	5.37:g.14399056delA	ENSP00000339299:p.Pro1497fs					TRIO_ENST00000537187.1_Frame_Shift_Del_p.P1497fs|TRIO_ENST00000509967.2_Frame_Shift_Del_p.P1448fs	p.P1497fs	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			30	4515	+	Lung NSC(4;0.000742)		1497			PH 1.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Frame_Shift_Del	DEL	ENST00000344204.4	37	c.4491delA	CCDS3883.1																																																																																				0.403	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		7	804						7	804	---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35874637	35874637	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:35874637delA	ENST00000303115.3	+	6	922	c.793delA	c.(793-795)aaafs	p.K266fs	IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	266					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGTGTTATGGAAAAAAAGGTG	0.428			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(793-795)aafs		interleukin 7 receptor							166.0	147.0	154.0					5																	35874637		2203	4300	6503	SO:0001589	frameshift_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35874637delA	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.793delA	5.37:g.35874637delA	ENSP00000306157:p.Lys266fs					IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron	p.K266fs	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		6	922	+	all_lung(31;0.00015)		266					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Frame_Shift_Del	DEL	ENST00000303115.3	37	c.793delA	CCDS3911.1																																																																																				0.428	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			7	516						7	516	---	---	---	---
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			9	1790						9	1790	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98235339	98235340	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:98235339_98235340insT	ENST00000284049.3	-	7	1078_1079	c.929_930insA	c.(928-930)aacfs	p.N310fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	310	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTGGTTCTTTGTTTTTTTCAAA	0.411																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(928-930)aaafs		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)																																			SO:0001589	frameshift_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98235339_98235340insT	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.930dupA	5.37:g.98235346_98235346dupT	ENSP00000284049:p.Asn310fs						p.K310fs	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	7	1078_1079	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	310			Chromo 1.		Q17RZ3	Frame_Shift_Ins	INS	ENST00000284049.3	37	c.929_930insA	CCDS34204.1																																																																																				0.411	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		7	1285						7	1285	---	---	---	---
CDO1	1036	broad.mit.edu	37	5	115148957	115148958	+	Splice_Site	INS	-	-	A	rs571899483	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:115148957_115148958insA	ENST00000250535.4	-	2	727		c.e2-2		CDO1_ENST00000502631.1_Splice_Site	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1						cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	CGGGTATACCTAAAAAAAAACA	0.332													?|AAAAAAAAA|AAAAAAAAAA|unsure	5	0.000998403	0.0	0.0	5008	,	,		16421	0.002		0.0	False		,,,				2504	0.0031					ENST00000250535.4																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11						c.e2-2		cysteine dioxygenase type 1	L-Cysteine(DB00151)|NADH(DB00157)			7,4257		0,7,2125						5.8	1.0			77	13,8235		0,13,4111	no	splice-3	CDO1	NM_001801.2		0,20,6236	A1A1,A1R,RR		0.1576,0.1642,0.1598				20,12492				SO:0001630	splice_region_variant	1036				inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	g.chr5:115148957_115148958insA		CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"""cysteine dioxygenase, type I"""			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.171-2->T	5.37:g.115148966_115148966dupA						CDO1_ENST00000502631.1_Splice_Site		NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	2	727	-		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)						B2RAK4|P78513|Q6FHZ8|Q8TB64	Splice_Site	INS	ENST00000250535.4	37		CCDS4121.1																																																																																				0.332	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250853.2	NM_001801	Intron	10	329						10	329	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118525523	118525524	+	Frame_Shift_Ins	INS	-	-	G	rs17144964|rs376776822	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:118525523_118525524insG	ENST00000311085.8	+	29	7336_7337	c.7256_7257insG	c.(7255-7260)gcggttfs	p.V2420fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.V2420fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2420										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAGTCACTGGCGGTTAAAGAAA	0.421																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7255-7257)ggtfs		Dmx-like 1																																				SO:0001589	frameshift_variant	1657							g.chr5:118525523_118525524insG	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7258dupG	5.37:g.118525525_118525525dupG	ENSP00000309690:p.Val2420fs					DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs	p.G2419fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	29	7336_7337	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2419						Frame_Shift_Ins	INS	ENST00000311085.8	37	c.7256_7257insG	CCDS4125.1																																																																																				0.421	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		9	784						9	784	---	---	---	---
CSNK1G3	1456	broad.mit.edu	37	5	122881495	122881495	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:122881495delA	ENST00000361991.2	+	1	168	c.138delA	c.(136-138)ggafs	p.G46fs	CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395412.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTAGAGTTGGAAAAAAAATTG	0.363																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(136-138)ggfs		casein kinase 1, gamma 3							102.0	101.0	101.0					5																	122881495		2203	4300	6503	SO:0001589	frameshift_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122881495delA	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.138delA	5.37:g.122881495delA	ENSP00000354942:p.Gly46fs					CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs	p.G46fs	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	2	857	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	46			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Frame_Shift_Del	DEL	ENST00000361991.2	37	c.138delA	CCDS4135.1																																																																																				0.363	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		7	776						7	776	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_ENST00000394320.3_In_Frame_Del_p.E818del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.E779del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.E754del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	818	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)			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)			aggaagaaggggaggaggaggag	0.606																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2437-2442)ggg>gg		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.chr5:149216457_149216459delGGA	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.2439_2441delGGA	5.37:g.149216466_149216468delGGA	ENSP00000312649:p.Glu818del					PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del	p.GE813del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2471_2473	+			813			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2439_2441delGGA	CCDS4298.1																																																																																				0.606	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		8	692						8	692	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156964990	156964990	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:156964990delA	ENST00000517905.1	-	4	305	c.261delT	c.(259-261)tttfs	p.F87fs	ADAM19_ENST00000257527.4_Frame_Shift_Del_p.F87fs|ADAM19_ENST00000394020.1_Frame_Shift_Del_p.F89fs|ADAM19_ENST00000430702.2_5'UTR			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	87					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGAAGGAGCAAAAAGTTGCC	0.418																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(259-261)ttfs		ADAM metallopeptidase domain 19							153.0	149.0	150.0					5																	156964990		2203	4300	6503	SO:0001589	frameshift_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156964990delA	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.261delT	5.37:g.156964990delA	ENSP00000428654:p.Phe87fs					ADAM19_ENST00000394020.1_Frame_Shift_Del_p.F89fs|ADAM19_ENST00000517905.1_Frame_Shift_Del_p.F87fs|ADAM19_ENST00000430702.2_5'UTR	p.F87fs	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	339	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	87					Q9BZL5|Q9UHP2	Frame_Shift_Del	DEL	ENST00000517905.1	37	c.261delT																																																																																					0.418	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		7	440						7	440	---	---	---	---
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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		7	506						7	506	---	---	---	---
EDN1	1906	broad.mit.edu	37	6	12292614	12292615	+	Frame_Shift_Ins	INS	-	-	G	rs183694577	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:12292614_12292615insG	ENST00000379375.5	+	2	372_373	c.105_106insG	c.(106-108)gggfs	p.G36fs		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	36					artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				GTGAGAACGGCGGGGAGAAACC	0.619																																						ENST00000379375.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	GRCh37	CM076165	EDN1	M	rs183694577	c.(103-108)gggggafs		endothelin 1																																				SO:0001589	frameshift_variant	1906				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity	g.chr6:12292614_12292615insG	S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.109dupG	6.37:g.12292618_12292618dupG	ENSP00000368683:p.Gly36fs						p.GG35fs	NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN			2	372_373	+	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)	35					Q96DA1	Frame_Shift_Ins	INS	ENST00000379375.5	37	c.105_106insG	CCDS4522.1																																																																																				0.619	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1	NM_001955		10	832						10	832	---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26384091	26384093	+	In_Frame_Del	DEL	CCT	CCT	-	rs546542545		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:26384091_26384093delCCT	ENST00000356709.4	+	2	153_155	c.42_44delCCT	c.(40-45)tccctc>tcc	p.L24del	BTN2A2_ENST00000352867.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.L24del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	24					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGCCAGCCTCcctcctcctcctc	0.581																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(40-45)tcc>tc		butyrophilin, subfamily 2, member A2																																				SO:0001651	inframe_deletion	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26384091_26384093delCCT	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.42_44delCCT	6.37:g.26384100_26384102delCCT	ENSP00000349143:p.Leu24del					BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del	p.SL14del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			2	153_155	+			14					A6NM84|B4DE97|B4DQ01|E9PH07|O00480	In_Frame_Del	DEL	ENST00000356709.4	37	c.42_44delCCT	CCDS4606.1																																																																																				0.581	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			7	623						7	623	---	---	---	---
ZNF184	7738	broad.mit.edu	37	6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aaafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(526-528)aafs		zinc finger protein 184							237.0	235.0	236.0					6																	27420810		2203	4300	6503	SO:0001589	frameshift_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420810delT	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.528delA	6.37:g.27420810delT	ENSP00000211936:p.Lys176fs					ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	812	-			176					B2R715|O60792|Q8TBA9	Frame_Shift_Del	DEL	ENST00000211936.6	37	c.528delA	CCDS4624.1																																																																																				0.408	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		12	1447						12	1447	---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27834859	27834859	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:27834859delT	ENST00000331442.3	-	1	500	c.449delA	c.(448-450)aagfs	p.K150fs		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	150					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.K150R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CTTCACTGCCTTTTTCGCCCC	0.622																																						ENST00000331442.3																			1	Substitution - Missense(1)	p.K150R(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(448-450)agfs		histone cluster 1, H1b							97.0	111.0	106.0					6																	27834859		2203	4299	6502	SO:0001589	frameshift_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834859delT	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.449delA	6.37:g.27834859delT	ENSP00000330074:p.Lys150fs						p.K150fs	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	500	-			150					Q14529|Q3MJ42	Frame_Shift_Del	DEL	ENST00000331442.3	37	c.449delA	CCDS4635.1																																																																																				0.622	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		7	1664						7	1664	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			22	985						22	985	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	813						8	813	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		8	1267						8	1267	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(31-33)del		triggering receptor expressed on myeloid cells-like 2				143,4121		8,127,1997						4.0	1.0			26	249,8005		8,233,3886	no	coding	TREML2	NM_024807.2		16,360,5883	A1A1,A1R,RR		3.0167,3.3537,3.1315				392,12126				SO:0001651	inframe_deletion	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41168714_41168716delCAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.31_33delCTG	6.37:g.41168723_41168725delCAG	ENSP00000418767:p.Leu11del						p.L11del	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			1	216_218	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		11					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	In_Frame_Del	DEL	ENST00000483722.1	37	c.31_33delCTG	CCDS4853.2																																																																																				0.631	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		17	232						17	232	---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)actfs	p.T871fs	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGCTCCTGAGTTTTCTTTGCA	0.584																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2611-2613)tcafs		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)																																			SO:0001589	frameshift_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44269188_44269189insT	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2612dupA	6.37:g.44269192_44269192dupT	ENSP00000244571:p.Thr871fs					TMEM151B_ENST00000438774.2_Intron	p.S871fs	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		20	2613_2614	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		871						Frame_Shift_Ins	INS	ENST00000244571.4	37	c.2611_2612insA	CCDS34464.1																																																																																				0.584	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		10	888						10	888	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64394097	64394097	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:64394097delA	ENST00000262043.3	+	4	814	c.474delA	c.(472-474)acafs	p.T158fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs			Q92576	PHF3_HUMAN	PHD finger protein 3	158					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTAACACAAAAAAAGCAT	0.383																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(472-474)acfs		PHD finger protein 3							158.0	168.0	165.0					6																	64394097		2203	4300	6503	SO:0001589	frameshift_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394097delA	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.474delA	6.37:g.64394097delA	ENSP00000262043:p.Thr158fs					PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs	p.T158fs			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	814	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		158					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Frame_Shift_Del	DEL	ENST00000262043.3	37	c.474delA	CCDS4966.1																																																																																				0.383	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			7	1571						7	1571	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs	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			10	306						10	306	---	---	---	---
GABRR2	2570	broad.mit.edu	37	6	89975427	89975429	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:89975427_89975429delAAG	ENST00000402938.3	-	7	925_927	c.792_794delCTT	c.(790-795)ttcttg>ttg	p.F264del	GABRR2_ENST00000602399.1_In_Frame_Del_p.F289del	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	264					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)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGTTTGGAGCAAGAAGAAGAAGA	0.517																																						ENST00000402938.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(790-795)ttg>tt		gamma-aminobutyric acid (GABA) A receptor, rho 2																																				SO:0001651	inframe_deletion	2570				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.chr6:89975427_89975429delAAG		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.792_794delCTT	6.37:g.89975436_89975438delAAG	ENSP00000386029:p.Phe264del					GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del	p.FL264del			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	7	925_927	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	289					A2BDE4|Q9H153	In_Frame_Del	DEL	ENST00000402938.3	37	c.792_794delCTT	CCDS5020.3																																																																																				0.517	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			10	435						10	435	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	CTG	-	rs147222924		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:131191073_131191075delCTG	ENST00000337057.3	-	15	2416_2418	c.2235_2237delCAG	c.(2233-2238)agcagt>agt	p.745_746SS>S	EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000530481.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000527659.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000524581.1_In_Frame_Del_p.123_124SS>S|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000368128.2_In_Frame_Del_p.745_746SS>S|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	745					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2233-2238)agt>ag		erythrocyte membrane protein band 4.1-like 2																																				SO:0001651	inframe_deletion	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131191073_131191075delCTG	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2235_2237delCAG	6.37:g.131191082_131191084delCTG	ENSP00000338481:p.Ser746del					EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del	p.SS745del	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2416_2418	-	Breast(56;0.0639)		745					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	In_Frame_Del	DEL	ENST00000337057.3	37	c.2235_2237delCAG	CCDS5141.1																																																																																				0.562	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			11	631						11	631	---	---	---	---
OLIG3	167826	broad.mit.edu	37	6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		8	609						8	609	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-	rs568155311		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:146755630_146755632delGAC	ENST00000282753.1	+	8	3518_3520	c.3283_3285delGAC	c.(3283-3285)gacdel	p.D1099del	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.D1099del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCGCCCGCGGACGACGACGACG	0.65																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3283-3285)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755630_146755632delGAC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3283_3285delGAC	6.37:g.146755639_146755641delGAC	ENSP00000282753:p.Asp1099del					GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del	p.D1099del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3753_3755	+		Ovarian(120;0.0387)	1099			Asp/Glu-rich (acidic).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3283_3285delGAC	CCDS5209.1																																																																																				0.650	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		11	898						11	898	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		7	284						7	284	---	---	---	---
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gaa>g		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del					AEBP1_ENST00000450684.2_In_Frame_Del_p.EK707del	p.EK1132del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1132			Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		7	393						7	393	---	---	---	---
PURB	5814	broad.mit.edu	37	7	44924131	44924131	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:44924131delA	ENST00000395699.2	-	1	829	c.817delT	c.(817-819)tgcfs	p.C273fs	MIR4657_ENST00000578157.1_RNA|RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	273					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCATACCGGCAAAAGGCGCCT	0.582																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(817-819)gcfs		purine-rich element binding protein B							95.0	104.0	101.0					7																	44924131		2203	4300	6503	SO:0001589	frameshift_variant	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924131delA		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.817delT	7.37:g.44924131delA	ENSP00000379051:p.Cys273fs						p.C273fs	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	829	-			273					A4D2L7	Frame_Shift_Del	DEL	ENST00000395699.2	37	c.817delT	CCDS5499.1																																																																																				0.582	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		8	1142						8	1142	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65226819	65226819	+	RNA	DEL	A	A	-	rs530400395	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:65226819delA	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AATGGGGACCAAAAAAAAAAT	0.353													|||unknown(NO_COVERAGE)	16	0.00319489	0.0068	0.0	5008	,	,		14661	0.005		0.0	False		,,,				2504	0.002					ENST00000442266.1																			0																																																			0							g.chr7:65226819delA	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226819delA														0	1167	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.353	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		7	44						7	44	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72667747	72667747	+	RNA	DEL	T	T	-	rs368317388		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:72667747delT	ENST00000425256.1	-	0	633									GTF2I repeat domain containing 2 pseudogene 1																		tttttttttcttttttttttt	0.388																																						ENST00000425256.1																			0																																																			0							g.chr7:72667747delT	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72667747delT								NR_002164.1						0	633	-									RNA	DEL	ENST00000425256.1	37																																																																																						0.388	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		16	158						16	158	---	---	---	---
PHTF2	57157	broad.mit.edu	37	7	77569581	77569581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:77569581delT	ENST00000248550.7	+	13	1778	c.1702delT	c.(1702-1704)tttfs	p.F569fs	PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000416283.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTGGATTTTCTTTTTTTTGCT	0.303																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1600-1602)ttfs		putative homeodomain transcription factor 2							155.0	145.0	148.0					7																	77569581		1810	4080	5890	SO:0001589	frameshift_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77569581delT	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1702delT	7.37:g.77569581delT	ENSP00000248550:p.Phe569fs					PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs	p.F535fs	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			12	1726	+			569					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Frame_Shift_Del	DEL	ENST00000248550.7	37	c.1600delT																																																																																					0.303	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		7	828						7	828	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-	rs199656890		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		cttagtttacagtgaaaacaa	0.522																																						ENST00000425474.1																			0																																																			0							g.chr7:99578706delA	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578706delA								NR_036679.1						0	87	+									RNA	DEL	ENST00000425474.1	37																																																																																						0.522	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			8	51						8	51	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100283635	100283637	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:100283635_100283637delTCC	ENST00000275732.5	-	9	2223_2225	c.1014_1016delGGA	c.(1012-1017)gaggaa>gaa	p.338_339EE>E	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	338	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCGGAAGGTTCCTCCTCCTCCT	0.675																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1012-1017)gaa>ga		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100283635_100283637delTCC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1014_1016delGGA	7.37:g.100283644_100283646delTCC	ENSP00000275732:p.Glu339del					GIGYF1_ENST00000471340.2_Intron	p.EE338del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			9	2223_2225	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		338			Poly-Glu.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.1014_1016delGGA	CCDS34708.1																																																																																				0.675	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	379						7	379	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)gagggc>ggc	p.E210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)			p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.7																																						ENST00000275732.5																			1	Deletion - In frame(1)	p.E210delE(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(628-633)ggc>g		GRB10 interacting GYF protein 1				14,2,4238		0,0,14,0,2,2111						5.0	1.0			29	36,2,8190		0,0,36,0,2,4076	no	codingComplex	GIGYF1	NM_022574.4		0,0,50,0,4,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4618,0.3761,0.4326				50,4,12428				SO:0001651	inframe_deletion	64599							g.chr7:100284335_100284337delCCT	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.629_631delAGG	7.37:g.100284344_100284346delCCT	ENSP00000275732:p.Glu210del					GIGYF1_ENST00000471340.2_Intron	p.EG210del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1838_1840	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		210			Poly-Glu.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.629_631delAGG	CCDS34708.1																																																																																				0.700	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	389						7	389	---	---	---	---
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	AG	-	rs368249579	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:139094365_139094366delAG	ENST00000354926.4	+	7	1098_1099	c.744_745delAG	c.(742-747)gaagagfs	p.EE248fs	C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		AACGAAGAGAAGAGAGAGAGAG	0.391														64	0.0127796	0.028	0.0014	5008	,	,		16418	0.004		0.002	False		,,,				2504	0.0204					ENST00000354926.4																			0											c.(742-747)gaagfs						136,3410		1,134,1638						5.1	1.0			34	290,7544		0,290,3627	no	frameshift	LUC7L2	NM_016019.3		1,424,5265	A1A1,A1R,RR		3.7018,3.8353,3.7434				426,10954				SO:0001589	frameshift_variant	0							g.chr7:139094365_139094366delAG		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.744_745delAG	7.37:g.139094375_139094376delAG	ENSP00000347005:p.Glu248fs					LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs	p.EE248fs	NM_016019.3	NP_057103.2					7	1098_1099	+									Frame_Shift_Del	DEL	ENST00000354926.4	37	c.744_745delAG	CCDS43656.1																																																																																				0.391	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			12	213						12	213	---	---	---	---
ANGPT2	285	broad.mit.edu	37	8	6378797	6378798	+	Frame_Shift_Ins	INS	-	-	T	rs34047276		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr8:6378797_6378798insT	ENST00000325203.5	-	4	1174_1175	c.700_701insA	c.(700-702)atafs	p.I234fs	MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.I234fs|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.I182fs|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.I234fs			O15123	ANGP2_HUMAN	angiopoietin 2	234					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGCAGTCACTATTTTTTTTTCT	0.366																																						ENST00000325203.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(700-702)agtfs		angiopoietin 2																																				SO:0001589	frameshift_variant	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6378797_6378798insT	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.701dupA	8.37:g.6378806_6378806dupT	ENSP00000314897:p.Ile234fs					ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs|MCPH1_ENST00000344683.5_Intron	p.S234fs			O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	4	1174_1175	-		Hepatocellular(245;0.0663)	234					A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Frame_Shift_Ins	INS	ENST00000325203.5	37	c.700_701insA	CCDS5958.1																																																																																				0.366	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		14	546						14	546	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	lincRNA	DEL	CA	CA	-	rs376658666		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		GGGGTGcacgcacacacacaca	0.53																																						ENST00000606573.1																			0																																																			0							g.chr8:7191540_7191541delCA			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191550_7191551delCA														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.530	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		20	214						20	214	---	---	---	---
EPHX2	2053	broad.mit.edu	37	8	27364393	27364393	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr8:27364393delT	ENST00000521400.1	+	5	972	c.542delT	c.(541-543)gttfs	p.V181fs	EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000518379.1_Frame_Shift_Del_p.V181fs|EPHX2_ENST00000380476.3_Frame_Shift_Del_p.V128fs|EPHX2_ENST00000521780.1_Frame_Shift_Del_p.V115fs	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	181	Phosphatase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		GCTCAGGTCGTTTTTTTGGAT	0.473																																						ENST00000521400.1																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(541-543)gtfs		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						83.0	88.0	86.0					8																	27364393		2203	4300	6503	SO:0001589	frameshift_variant	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27364393delT	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.542delT	8.37:g.27364393delT	ENSP00000430269:p.Val181fs					EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000380476.3_Frame_Shift_Del_p.V128fs|EPHX2_ENST00000521780.1_Frame_Shift_Del_p.V115fs|EPHX2_ENST00000518379.1_Frame_Shift_Del_p.V181fs	p.V181fs	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	5	972	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	181			Phosphatase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Frame_Shift_Del	DEL	ENST00000521400.1	37	c.542delT	CCDS6060.1																																																																																				0.473	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			7	540						7	540	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-	rs555283914	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.360	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			9	552						9	552	---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68076631	68076631	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr8:68076631delA	ENST00000262210.5	+	22	2732	c.2701delA	c.(2701-2703)aaafs	p.K902fs	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Frame_Shift_Del_p.K557fs	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	937					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGCAGAGGAGAAAAAAAATGT	0.343																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2701-2703)aafs		centrosome and spindle pole associated protein 1							77.0	74.0	75.0					8																	68076631		1810	4077	5887	SO:0001589	frameshift_variant	79848					centrosome|microtubule|spindle		g.chr8:68076631delA	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2701delA	8.37:g.68076631delA	ENSP00000262210:p.Lys902fs					CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Frame_Shift_Del_p.K557fs	p.K902fs	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		22	2732	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	937					A6ND63|Q70F00|Q8TBC1	Frame_Shift_Del	DEL	ENST00000262210.5	37	c.2701delA	CCDS43744.1																																																																																				0.343	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		8	452						8	452	---	---	---	---
CPNE3	8895	broad.mit.edu	37	8	87558847	87558847	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr8:87558847delA	ENST00000521271.1	+	10	919	c.757delA	c.(757-759)aaafs	p.K254fs	CPNE3_ENST00000198765.4_Frame_Shift_Del_p.K254fs	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	254					lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CATAAATGAGAAAAAAAGGCA	0.308																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(757-759)aafs		copine III							90.0	104.0	99.0					8																	87558847		2203	4300	6503	SO:0001589	frameshift_variant	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87558847delA	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.757delA	8.37:g.87558847delA	ENSP00000430934:p.Lys254fs					CPNE3_ENST00000198765.4_Frame_Shift_Del_p.K254fs	p.K254fs	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			10	919	+			254					A8KA47|Q8IYA1	Frame_Shift_Del	DEL	ENST00000521271.1	37	c.757delA	CCDS6243.1																																																																																				0.308	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			7	911						7	911	---	---	---	---
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-	rs548441545|rs563445319	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	TP53INP1_ENST00000378776.4_In_Frame_Del_p.50_51EE>E|TP53INP1_ENST00000448464.2_In_Frame_Del_p.50_51EE>E|NDUFAF6_ENST00000396113.1_Intron	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|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron	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			9	297						9	297	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143956378	143956380	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr8:143956378_143956380delGCA	ENST00000292427.4	-	8	1423_1425	c.1391_1393delTGC	c.(1390-1395)ctgcac>cac	p.L464del	CYP11B1_ENST00000377675.3_In_Frame_Del_p.L535del|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	464					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCACATGGTGCAGCAGCAGCAG	0.68									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(1390-1395)cac>c		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)																																			SO:0001651	inframe_deletion	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956378_143956380delGCA	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1391_1393delTGC	8.37:g.143956387_143956389delGCA	ENSP00000292427:p.Leu464del					CYP11B1_ENST00000377675.3_In_Frame_Del_p.LH535del|CYP11B1_ENST00000517471.1_Intron	p.LH464del	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			8	1423_1425	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		464					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	In_Frame_Del	DEL	ENST00000292427.4	37	c.1391_1393delTGC	CCDS6392.1																																																																																				0.680	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			7	488						7	488	---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	GAG	-	rs2272753|rs2272754	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr8:144522387_144522389delGAG	ENST00000262577.5	-	11	2668_2670	c.2637_2639delCTC	c.(2635-2640)tcctca>tca	p.879_880SS>S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			Gggaggggatgaggaggaggagg	0.655																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2635-2640)tca>tc		zinc finger CCCH-type containing 3																																				SO:0001651	inframe_deletion	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144522387_144522389delGAG	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2637_2639delCTC	8.37:g.144522396_144522398delGAG	ENSP00000262577:p.Ser881del						p.SS879del	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		11	2668_2670	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		879			Poly-Ser.		Q14163|Q8N4E2|Q9BUS4	In_Frame_Del	DEL	ENST00000262577.5	37	c.2637_2639delCTC	CCDS6402.1																																																																																				0.655	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		8	130						8	130	---	---	---	---
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-	rs569686873|rs370051574		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)gagdel	p.E1039del	KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)del		KN motif and ankyrin repeat domains 1			,	16,0,4248		0,0,16,0,0,2116					,	5.3	1.0		dbSNP_132	135	3,2,8249		0,0,3,1,0,4123	no	codingComplex,codingComplex	KANK1	NM_153186.3,NM_015158.2	,	0,0,19,1,0,6239	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.3752,0.1678	,	,		19,2,12497				SO:0001651	inframe_deletion	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732475_732477delGAG	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3103_3105delGAG	9.37:g.732484_732486delGAG	ENSP00000371740:p.Glu1039del					KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del	p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3755_3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1039					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	In_Frame_Del	DEL	ENST00000382303.1	37	c.3103_3105delGAG	CCDS34976.1																																																																																				0.463	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		8	750						8	750	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-	rs376509101|rs62639301	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407). {ECO:0000305}.	aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|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)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2																																				SO:0001651	inframe_deletion	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039777_2039779delCAG	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.667_669delCAG	9.37:g.2039786_2039788delCAG	ENSP00000371638:p.Gln238del					SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del	p.Q238del			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	876_878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	238	Missing (in Ref. 1; CAA51407).		Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	c.667_669delCAG	CCDS34977.1																																																																																				0.635	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		8	179						8	179	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633584	32633584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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	897						9	897	---	---	---	---
HABP4	22927	broad.mit.edu	37	9	99250415	99250416	+	Frame_Shift_Ins	INS	-	-	C	rs372277294		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:99250415_99250416insC	ENST00000375249.4	+	7	1119_1120	c.1044_1045insC	c.(1045-1047)cccfs	p.P349fs	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Frame_Shift_Ins_p.P244fs	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				TTTTCCGGAAACCCGCCAATGA	0.53																																						ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(1042-1047)aaccgcfs		hyaluronan binding protein 4																																				SO:0001589	frameshift_variant	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99250415_99250416insC	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.1047dupC	9.37:g.99250418_99250418dupC	ENSP00000364398:p.Pro349fs					HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Frame_Shift_Ins_p.R244fs	p.R349fs	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			7	1119_1120	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	349						Frame_Shift_Ins	INS	ENST00000375249.4	37	c.1044_1045insC	CCDS6719.1																																																																																				0.530	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		26	771						26	771	---	---	---	---
FAM69B	138311	broad.mit.edu	37	9	139617741	139617742	+	Frame_Shift_Ins	INS	-	-	G	rs536659122		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:139617741_139617742insG	ENST00000371692.4	+	5	907_908	c.811_812insG	c.(811-813)cggfs	p.R271fs	SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000416970.1_RNA|FAM69B_ENST00000371691.1_Frame_Shift_Ins_p.R184fs|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000447221.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	271						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		GTGGCCTTGGCGGGCCAAGATC	0.678																																						ENST00000371691.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8						c.(550-552)ggcfs		family with sequence similarity 69, member B																																				SO:0001589	frameshift_variant	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139617741_139617742insG		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.814dupG	9.37:g.139617744_139617744dupG	ENSP00000360757:p.Arg271fs					FAM69B_ENST00000371692.4_Frame_Shift_Ins_p.G271fs|SNHG7_ENST00000414282.1_RNA	p.G184fs			Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	3	1649_1650	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	271					Q5VUD7|Q8N5N0|Q8WYU5	Frame_Shift_Ins	INS	ENST00000371692.4	37	c.550_551insG	CCDS7004.1																																																																																				0.678	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		7	394						7	394	---	---	---	---
TPRN	286262	broad.mit.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	TCC	-	rs376810326		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:140087025_140087027delTCC	ENST00000409012.4	-	2	1928_1930	c.1842_1844delGGA	c.(1840-1845)gaggaa>gaa	p.614_615EE>E	TPRN_ENST00000541945.1_5'Flank|TPRN_ENST00000321773.2_In_Frame_Del_p.553_554EE>E	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	614	Glu-rich.				sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcttcctcttcctcctcctcct	0.596																																						ENST00000409012.4																			1	Deletion - In frame(1)	p.E315delE(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(1840-1845)gaa>ga		taperin																																				SO:0001651	inframe_deletion	286262				sensory perception of sound	stereocilium		g.chr9:140087025_140087027delTCC	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1842_1844delGGA	9.37:g.140087034_140087036delTCC	ENSP00000387100:p.Glu621del					TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del	p.EE620del	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN			2	1928_1930	-			620			Glu-rich.		B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	In_Frame_Del	DEL	ENST00000409012.4	37	c.1842_1844delGGA	CCDS56594.1																																																																																				0.596	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		7	200						7	200	---	---	---	---
OLAH	55301	broad.mit.edu	37	10	15103848	15103848	+	Frame_Shift_Del	DEL	T	T	-	rs138615083	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:15103848delT	ENST00000378228.3	+	4	543	c.289delT	c.(289-291)tttfs	p.F98fs	OLAH_ENST00000378217.3_Frame_Shift_Del_p.F151fs	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	98					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						ACCATTTGCATTTTTTGGCCA	0.368																																						ENST00000378217.3																			0				endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						c.(448-450)ttfs		oleoyl-ACP hydrolase							154.0	152.0	152.0					10																	15103848		2203	4300	6503	SO:0001589	frameshift_variant	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15103848delT	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.289delT	10.37:g.15103848delT	ENSP00000367473:p.Phe98fs					OLAH_ENST00000378228.3_Frame_Shift_Del_p.F98fs	p.F151fs	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN			5	635	+			98					Q5VUB6|Q9NUW1	Frame_Shift_Del	DEL	ENST00000378228.3	37	c.448delT	CCDS31152.1																																																																																				0.368	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		8	1054						8	1054	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15254987	15254989	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:15254987_15254989delTCA	ENST00000378116.4	-	8	2604_2606	c.2598_2600delTGA	c.(2596-2601)gatgac>gac	p.866_867DD>D	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	866						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTCTCCTTGGTCATCATCATCAT	0.571																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2596-2601)gac>ga		family with sequence similarity 171, member A1																																				SO:0001651	inframe_deletion	221061					integral to membrane		g.chr10:15254987_15254989delTCA	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2598_2600delTGA	10.37:g.15254996_15254998delTCA	ENSP00000367356:p.Asp867del						p.DD866del	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2604_2606	-			866					D3DRT9|Q32M49|Q8N4I0	In_Frame_Del	DEL	ENST00000378116.4	37	c.2598_2600delTGA	CCDS31154.1																																																																																				0.571	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		7	1231						7	1231	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26462760	26462760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:26462760delA	ENST00000265944.5	+	30	3733	c.3567delA	c.(3565-3567)ccafs	p.P1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAGACTCCAAAAAAAATGA	0.403																																						ENST00000265944.5																			2	Deletion - Frameshift(2)	p.M1192fs*1(2)	ovary(1)|large_intestine(1)	NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3565-3567)ccfs		myosin IIIA							67.0	66.0	67.0					10																	26462760		2203	4300	6503	SO:0001589	frameshift_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462760delA	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3567delA	10.37:g.26462760delA	ENSP00000265944:p.Pro1189fs					MYO3A_ENST00000543632.1_Intron	p.P1189fs	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	3733	+			1189					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Del	DEL	ENST00000265944.5	37	c.3567delA	CCDS7148.1																																																																																				0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		8	448						8	448	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828727	61828729	+	In_Frame_Del	DEL	GTG	GTG	-	rs368539157		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:61828727_61828729delGTG	ENST00000280772.2	-	37	12101_12103	c.11910_11912delCAC	c.(11908-11913)accact>act	p.3970_3971TT>T	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3970	Thr-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						agtggtggtagtggtggtggtgg	0.468																																						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.(11908-11913)act>ac		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001651	inframe_deletion	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828727_61828729delGTG	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.11910_11912delCAC	10.37:g.61828736_61828738delGTG	ENSP00000280772:p.Thr3978del					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.TT3976del	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12101_12103	-			3976			Thr-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	In_Frame_Del	DEL	ENST00000280772.2	37	c.11910_11912delCAC	CCDS7258.1																																																																																				0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		11	800						11	800	---	---	---	---
SYNPO2L	79933	broad.mit.edu	37	10	75406948	75406948	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:75406948delA	ENST00000394810.2	-	4	2611	c.2462delT	c.(2461-2463)ttcfs	p.F821fs	SYNPO2L_ENST00000372873.4_Frame_Shift_Del_p.F597fs	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	821	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGCCTGGGGGAAAAAGGGAGA	0.592																																						ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2461-2463)tcfs		synaptopodin 2-like							59.0	71.0	67.0					10																	75406948		2201	4300	6501	SO:0001589	frameshift_variant	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406948delA	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2462delT	10.37:g.75406948delA	ENSP00000378289:p.Phe821fs					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Frame_Shift_Del_p.F597fs	p.F821fs	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2611	-	Prostate(51;0.0112)		821			Pro-rich.		A5PKV9|Q68A20	Frame_Shift_Del	DEL	ENST00000394810.2	37	c.2462delT	CCDS44438.1																																																																																				0.592	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		7	897						7	897	---	---	---	---
C10orf55	414236	broad.mit.edu	37	10	75673298	75673298	+	Intron	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:75673298delA	ENST00000409178.1	-	3	268				PLAU_ENST00000372762.4_Splice_Site_p.G118fs|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000446342.1_Splice_Site_p.G137fs|PLAU_ENST00000372764.3_Splice_Site_p.G154fs	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					GTCCTCCAGGAAAAAAGCCCT	0.517																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.e6-1		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						156.0	188.0	177.0					10																	75673298		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673298delA		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-465T>-	10.37:g.75673298delA						PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice	p.G137_splice	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			6	893	+	Prostate(51;0.0112)		154			Kringle.		Q3KRG4|Q8NAK4	Splice_Site	DEL	ENST00000409178.1	37	c.409_splice	CCDS53541.1																																																																																				0.517	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		9	2609						9	2609	---	---	---	---
ABCC2	1244	broad.mit.edu	37	10	101559000	101559000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:101559000delA	ENST00000370449.4	+	8	1017	c.904delA	c.(904-906)aaafs	p.K303fs		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	303					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GTCTGGGACCAAAAAAGATGT	0.403																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(904-906)aafs		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						195.0	213.0	207.0					10																	101559000		2203	4300	6503	SO:0001589	frameshift_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101559000delA	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.904delA	10.37:g.101559000delA	ENSP00000359478:p.Lys303fs						p.K303fs	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	1017	+		Colorectal(252;0.234)	303					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Frame_Shift_Del	DEL	ENST00000370449.4	37	c.904delA	CCDS7484.1																																																																																				0.403	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		7	1590						7	1590	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:103919000_103919002delAGC	ENST00000605788.1	+	6	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_ENST00000405356.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR	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_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del	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		8	1112						8	1112	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:105727547_105727549delAGA	ENST00000369755.3	+	1	589_591	c.44_46delAGA	c.(43-48)gagaag>gag	p.K19del	SLK_ENST00000335753.4_In_Frame_Del_p.K19del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	19	Poly-Lys.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGGGGAGCGAGAAGAAGAAGAA	0.448																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(43-48)gag>g		STE20-like kinase																																				SO:0001651	inframe_deletion	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105727547_105727549delAGA		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.44_46delAGA	10.37:g.105727556_105727558delAGA	ENSP00000358770:p.Lys19del					SLK_ENST00000335753.4_In_Frame_Del_p.EK15del	p.EK15del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	1	589_591	+		Colorectal(252;0.178)	15					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	In_Frame_Del	DEL	ENST00000369755.3	37	c.44_46delAGA	CCDS7553.1																																																																																				0.448	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		8	746						8	746	---	---	---	---
HMX2	3167	broad.mit.edu	37	10	124909413	124909414	+	Frame_Shift_Ins	INS	-	-	C	rs369511308		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:124909413_124909414insC	ENST00000339992.3	+	2	853_854	c.596_597insC	c.(595-600)aaccgcfs	p.R200fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	200					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		TGGTTCCAGAACCGCCGCAACA	0.649																																						ENST00000339992.3																			0				endometrium(1)|kidney(1)|lung(4)|prostate(1)	7						c.(595-597)acgfs		H6 family homeobox 2																																				SO:0001589	frameshift_variant	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124909413_124909414insC		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.598dupC	10.37:g.124909415_124909415dupC	ENSP00000341108:p.Arg200fs						p.T199fs	NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	2	853_854	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	199					B2RNV5	Frame_Shift_Ins	INS	ENST00000339992.3	37	c.596_597insC	CCDS31305.1																																																																																				0.649	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		9	208						9	208	---	---	---	---
ATHL1	80162	broad.mit.edu	37	11	293711	293712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:293711_293712insC	ENST00000409548.2	+	10	1713_1714	c.1598_1599insC	c.(1597-1602)ggccccfs	p.GP533fs	ATHL1_ENST00000409655.1_Frame_Shift_Ins_p.GP285fs|ATHL1_ENST00000409479.1_Frame_Shift_Ins_p.GP560fs	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	533					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		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;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCCCCCAGGGCCCCGCCATGA	0.619																																						ENST00000409548.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17						c.(1597-1599)gccfs		ATH1, acid trehalase-like 1 (yeast)																																				SO:0001589	frameshift_variant	80162				carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	g.chr11:293711_293712insC	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.1602dupC	11.37:g.293715_293715dupC	ENSP00000387185:p.Gly533fs					ATHL1_ENST00000409655.1_Frame_Shift_Ins_p.A285fs|ATHL1_ENST00000409479.1_Frame_Shift_Ins_p.A560fs	p.A533fs	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	10	1713_1714	+		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)	533					Q658X8|Q8TEG9|Q9H635	Frame_Shift_Ins	INS	ENST00000409548.2	37	c.1598_1599insC	CCDS31322.2																																																																																				0.619	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	NM_025092		11	834						11	834	---	---	---	---
CCDC73	493860	broad.mit.edu	37	11	32635951	32635951	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:32635951delT	ENST00000335185.5	-	16	1956	c.1913delA	c.(1912-1914)aatfs	p.N638fs	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	638								p.N638fs*18(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGGAACAGGATTTTTTTTTAT	0.313																																						ENST00000335185.5																			1	Deletion - Frameshift(1)	p.N638fs*18(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(1912-1914)atfs		coiled-coil domain containing 73							63.0	57.0	59.0					11																	32635951		1802	4077	5879	SO:0001589	frameshift_variant	493860							g.chr11:32635951delT	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1913delA	11.37:g.32635951delT	ENSP00000335325:p.Asn638fs						p.N638fs	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			16	1956	-	Breast(20;0.112)		638					Q6P5Q7|Q6ZMW0|Q86WE7	Frame_Shift_Del	DEL	ENST00000335185.5	37	c.1913delA	CCDS41630.1																																																																																				0.313	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		8	208						8	208	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:35513670delC	ENST00000378880.2	-	3	747	c.302delG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCAAGGTACCCCCCCATGA	0.517																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gtfs		peptidase domain containing associated with muscle regeneration 1							201.0	193.0	196.0					11																	35513670		2202	4298	6500	SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513670delC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.302delG	11.37:g.35513670delC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs	p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Del	DEL	ENST00000378880.2	37	c.302delG	CCDS31460.1																																																																																				0.517	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		8	1710						8	1710	---	---	---	---
TRIM51HP	440041	broad.mit.edu	37	11	55065032	55065032	+	RNA	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:55065032delT	ENST00000526016.1	-	0	393					NR_038174.2				tripartite motif-containing 51H, pseudogene																		AAAGACTGCATTTTTTTTTAG	0.398																																						ENST00000526016.1																			0																																																			0							g.chr11:55065032delT			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065032delT								NR_038174.2						0	393	-									RNA	DEL	ENST00000526016.1	37																																																																																						0.398	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			7	387						7	387	---	---	---	---
RPS6KB2	6199	broad.mit.edu	37	11	67201678	67201678	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:67201678delT	ENST00000312629.5	+	12	1024	c.979delT	c.(979-981)tttfs	p.F328fs	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GAGACATCCCTTTTTCCGGCA	0.632																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(979-981)ttfs		ribosomal protein S6 kinase, 70kDa, polypeptide 2							260.0	290.0	280.0					11																	67201678		2075	4199	6274	SO:0001589	frameshift_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67201678delT	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.979delT	11.37:g.67201678delT	ENSP00000308413:p.Phe328fs					AP003419.16_ENST00000535922.1_RNA	p.F328fs	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		12	1024	+			328			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Frame_Shift_Del	DEL	ENST00000312629.5	37	c.979delT	CCDS41677.1																																																																																				0.632	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		7	3064						7	3064	---	---	---	---
ALDH3B2	222	broad.mit.edu	37	11	67433067	67433067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:67433067delC	ENST00000349015.3	-	7	833	c.395delG	c.(394-396)ggcfs	p.G132fs	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Frame_Shift_Del_p.G132fs	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						GGGGTTCTTGCCCCCCAGCTC	0.642																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(394-396)gcfs		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)						125.0	136.0	132.0					11																	67433067		2200	4294	6494	SO:0001589	frameshift_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433067delC	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.395delG	11.37:g.67433067delC	ENSP00000255084:p.Gly132fs					ALDH3B2_ENST00000530069.1_Frame_Shift_Del_p.G132fs	p.G132fs	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			7	833	-			132	G -> V (in Ref. 4; BAC03897).				Q53Y98|Q8NAL5|Q96IB2	Frame_Shift_Del	DEL	ENST00000349015.3	37	c.395delG	CCDS31622.1																																																																																				0.642	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		8	1606						8	1606	---	---	---	---
GDPD4	220032	broad.mit.edu	37	11	76928312	76928315	+	Splice_Site	DEL	ATCT	ATCT	-	rs373265622|rs538773767		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:76928312_76928315delATCT	ENST00000376217.2	-	17	1791_1792	c.1541_1542delAGAT	c.(1540-1542)aag>a	p.K514fs	GDPD4_ENST00000315938.4_3'UTR			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	514					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTATGTGCAAatctatctatctat	0.471																																						ENST00000376217.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.e17-1		glycerophosphodiester phosphodiesterase domain containing 4				0,120,4144		0,0,0,54,12,2066						-4.4	0.0			131	2,475,7777		0,0,2,232,11,3882	no	utr-3	GDPD4	NM_182833.1		0,0,2,286,23,5948	A1A1,A1A2,A1R,A2A2,A2R,RR		5.779,2.8143,4.7691				2,595,11921				SO:0001630	splice_region_variant	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76928312_76928315delATCT	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.1541-1AGAT>-	11.37:g.76928320_76928323delATCT						GDPD4_ENST00000315938.4_3'UTR	p.514_splice			Q6W3E5	GDPD4_HUMAN			17	1791_1792	-			514					Q7Z5B0	Splice_Site	DEL	ENST00000376217.2	37	c.1540_splice																																																																																					0.471	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833	Frame_Shift_Del	8	439						8	439	---	---	---	---
C11orf54	28970	broad.mit.edu	37	11	93486914	93486914	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:93486914delA	ENST00000331239.4	+	4	400	c.221delA	c.(220-222)caafs	p.Q74fs	C11orf54_ENST00000528288.1_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000540113.1_Frame_Shift_Del_p.Q55fs|C11orf54_ENST00000354421.3_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000528099.1_Frame_Shift_Del_p.Q74fs			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	74					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTGTAAACCAAAAAAAAGTA	0.353																																						ENST00000528288.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8						c.(220-222)cafs		chromosome 11 open reading frame 54							99.0	97.0	98.0					11																	93486914		2201	4298	6499	SO:0001589	frameshift_variant	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93486914delA	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.221delA	11.37:g.93486914delA	ENSP00000331209:p.Gln74fs					C11orf54_ENST00000331239.4_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000528099.1_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000354421.3_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000540113.1_Frame_Shift_Del_p.Q55fs	p.Q74fs	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN			4	456	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	74					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Frame_Shift_Del	DEL	ENST00000331239.4	37	c.221delA																																																																																					0.353	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		8	243						8	243	---	---	---	---
MRE11A	4361	broad.mit.edu	37	11	94153333	94153335	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:94153333_94153335delATC	ENST00000323929.3	-	20	2305_2307	c.2083_2085delGAT	c.(2083-2085)gatdel	p.D695del	MRE11A_ENST00000323977.3_In_Frame_Del_p.D667del|MRE11A_ENST00000393241.4_In_Frame_Del_p.D694del|MRE11A_ENST00000407439.3_In_Frame_Del_p.D698del	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	695					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TCATAAAAGGATCATCATCATCA	0.325								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(2083-2085)del	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)																																				SO:0001651	inframe_deletion	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94153333_94153335delATC	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.2083_2085delGAT	11.37:g.94153342_94153344delATC	ENSP00000325863:p.Asp695del					MRE11A_ENST00000393241.4_In_Frame_Del_p.D694del|MRE11A_ENST00000323977.3_In_Frame_Del_p.D667del|MRE11A_ENST00000407439.3_In_Frame_Del_p.D698del	p.D695del	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN			20	2305_2307	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	695					O43475	In_Frame_Del	DEL	ENST00000323929.3	37	c.2083_2085delGAT	CCDS8299.1																																																																																				0.325	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		8	290						8	290	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108559769	108559769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:108559769delT	ENST00000322536.3	+	7	1084	c.955delT	c.(955-957)tttfs	p.F320fs	DDX10_ENST00000526794.1_Frame_Shift_Del_p.F320fs	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	320	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GAGCATTGTATTTTTTTCCAG	0.353			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(955-957)ttfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							259.0	262.0	261.0					11																	108559769		2201	4298	6499	SO:0001589	frameshift_variant	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108559769delT	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.955delT	11.37:g.108559769delT	ENSP00000314348:p.Phe320fs					DDX10_ENST00000322536.3_Frame_Shift_Del_p.F320fs	p.F320fs			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	7	987	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	320			Helicase C-terminal.		B2RCQ3|Q5BJD8	Frame_Shift_Del	DEL	ENST00000322536.3	37	c.955delT	CCDS8342.1																																																																																				0.353	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		7	1656						7	1656	---	---	---	---
C11orf57	55216	broad.mit.edu	37	11	111953288	111953289	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:111953288_111953289insA	ENST00000280352.9	+	6	1107_1108	c.471_472insA	c.(472-474)aaafs	p.K158fs	TIMM8B_ENST00000507614.1_5'Flank|C11orf57_ENST00000532163.1_Frame_Shift_Ins_p.K130fs|C11orf57_ENST00000420986.2_Frame_Shift_Ins_p.K158fs|C11orf57_ENST00000393047.3_Frame_Shift_Ins_p.K159fs	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	158	Lys-rich.									autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AGAAATCCCACAAAAAAAAGCA	0.396																																						ENST00000532163.1																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(385-390)caaaaafs		chromosome 11 open reading frame 57																																				SO:0001589	frameshift_variant	55216							g.chr11:111953288_111953289insA	BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.479dupA	11.37:g.111953296_111953296dupA	ENSP00000339076:p.Lys158fs					C11orf57_ENST00000420986.2_Frame_Shift_Ins_p.QK157fs|C11orf57_ENST00000280352.9_Frame_Shift_Ins_p.QK157fs|C11orf57_ENST00000393047.3_Frame_Shift_Ins_p.QK158fs	p.QK129fs			Q6ZUT1	CK057_HUMAN		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)	6	1153_1154	+		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	157					Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Frame_Shift_Ins	INS	ENST00000280352.9	37	c.387_388insA	CCDS41715.1																																																																																				0.396	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195		8	435						8	435	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115080312	115080314	+	In_Frame_Del	DEL	TGG	TGG	-	rs370430583		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:115080312_115080314delTGG	ENST00000452722.3	-	8	1078_1080	c.1058_1060delCCA	c.(1057-1062)accatc>atc	p.T353del	CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_In_Frame_Del_p.T353del|CADM1_ENST00000331581.6_In_Frame_Del_p.T353del	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		atggtaaggatggtggtggtggt	0.429																																						ENST00000537058.1																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1057-1062)atc>a		cell adhesion molecule 1																																				SO:0001651	inframe_deletion	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080312_115080314delTGG	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1058_1060delCCA	11.37:g.115080321_115080323delTGG	ENSP00000395359:p.Thr353del					CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron	p.TI353del			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1078_1080	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	353	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					In_Frame_Del	DEL	ENST00000452722.3	37	c.1058_1060delCCA	CCDS8373.1																																																																																				0.429	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		18	508						18	508	---	---	---	---
DPAGT1	1798	broad.mit.edu	37	11	118967854	118967856	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:118967854_118967856delGCA	ENST00000409993.2	-	10	2708_2710	c.1157_1159delTGC	c.(1156-1161)ctgcag>cag	p.L386del	DPAGT1_ENST00000432443.2_In_Frame_Del_p.L279del|DPAGT1_ENST00000354202.4_In_Frame_Del_p.L386del|H2AFX_ENST00000530167.1_5'Flank			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	386					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATCCTCACCTGCAGCAGCAGCAG	0.488																																						ENST00000409993.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(1156-1161)cag>c		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)																																				SO:0001651	inframe_deletion	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118967854_118967856delGCA	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.1157_1159delTGC	11.37:g.118967863_118967865delGCA	ENSP00000386597:p.Leu386del					DPAGT1_ENST00000432443.2_In_Frame_Del_p.LQ279del|DPAGT1_ENST00000354202.4_In_Frame_Del_p.LQ386del	p.LQ386del			Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	10	2708_2710	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	386					O15216|Q86WV9|Q9BWE6	In_Frame_Del	DEL	ENST00000409993.2	37	c.1157_1159delTGC	CCDS8411.1																																																																																				0.488	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		7	890						7	890	---	---	---	---
NLRX1	79671	broad.mit.edu	37	11	119050548	119050548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:119050548delC	ENST00000409109.1	+	7	2405	c.1818delC	c.(1816-1818)ggcfs	p.G606fs	NLRX1_ENST00000409265.4_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000292199.2_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000525863.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000409991.1_Frame_Shift_Del_p.G606fs	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	606	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCGTGGAGGGCCCCCGGCGCC	0.612																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1816-1818)ggfs		NLR family member X1							90.0	97.0	94.0					11																	119050548		2200	4295	6495	SO:0001589	frameshift_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119050548delC	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1818delC	11.37:g.119050548delC	ENSP00000387334:p.Gly606fs					NLRX1_ENST00000409991.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000525863.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000409265.4_Frame_Shift_Del_p.G606fs	p.G606fs			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	2405	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	606			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Frame_Shift_Del	DEL	ENST00000409109.1	37	c.1818delC	CCDS8416.1																																																																																				0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		8	1121						8	1121	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:6711207_6711209delCTT	ENST00000357008.2	-	4	518_520	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000309577.6_In_Frame_Del_p.K119del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Deletion - In frame(3)	p.K119delK(3)	central_nervous_system(3)	central_nervous_system(2)	2						c.(355-357)del		chromodomain helicase DNA binding protein 4				115,4123		4,107,2008						4.7	1.0			29	227,7995		2,223,3886	no	coding	CHD4	NM_001273.2		6,330,5894	A1A1,A1R,RR		2.7609,2.7135,2.7448				342,12118				SO:0001651	inframe_deletion	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711207_6711209delCTT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.355_357delAAG	12.37:g.6711216_6711218delCTT	ENSP00000349508:p.Lys119del					CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del	p.K119del			Q14839	CHD4_HUMAN			4	518_520	-			119			Poly-Lys.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.355_357delAAG	CCDS8552.1																																																																																				0.537	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	343						7	343	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:46320707_46320708delTC	ENST00000369367.3	-	11	3009_3010	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Frame_Shift_Del_p.E611fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1831-1833)afs		SR-related CTD-associated factor 11																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320707_46320708delTC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2776_2777delGA	12.37:g.46320717_46320718delTC	ENSP00000358374:p.Glu926fs					SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs	p.E611fs			Q99590	SCAFB_HUMAN			1	3040_3041	-			926					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	ENST00000369367.3	37	c.1831_1832delGA	CCDS8748.2																																																																																				0.446	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		7	962						7	962	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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			8	1223						8	1223	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:57674205_57674207delTGC	ENST00000347140.3	-	14	1626_1628	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000402412.1_In_Frame_Del_p.426_427QQ>Q|R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q|RP11-123K3.4_ENST00000548184.1_3'UTR			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1276-1281)caa>ca		R3H domain containing 2																																				SO:0001651	inframe_deletion	22864					nucleus	nucleic acid binding	g.chr12:57674205_57674207delTGC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1236_1238delGCA	12.37:g.57674214_57674216delTGC	ENSP00000317903:p.Gln413del					R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del	p.QQ426del			Q9Y2K5	R3HD2_HUMAN			14	1668_1670	-			412			Gln-rich.		Q2M1T9|Q3ZCT5	In_Frame_Del	DEL	ENST00000347140.3	37	c.1278_1280delGCA	CCDS8937.2																																																																																				0.576	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		17	655						17	655	---	---	---	---
METTL21B	25895	broad.mit.edu	37	12	58177051	58177052	+	IGR	INS	-	-	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:58177051_58177052insG	ENST00000300209.8	+	0	2563				TSFM_ENST00000550559.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000454289.3_Frame_Shift_Ins_p.G73fs|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000497617.1_3'UTR|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.AG87fs|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000540550.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000350762.5_5'UTR	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						AGACTTGTGGCGGGGACCTCAA	0.569																																						ENST00000454289.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8						c.(214-219)gggggafs		Ts translation elongation factor, mitochondrial			,,,	17,4247		0,17,2115					,,,	1.2	1.0			107	33,8221		0,33,4094	no	frameshift,frameshift,frameshift,frameshift	TSFM	NM_005726.5,NM_001172697.1,NM_001172696.1,NM_001172695.1	,,,	0,50,6209	A1A1,A1R,RR		0.3998,0.3987,0.3994	,,,	,,,		50,12468				SO:0001628	intergenic_variant	10102				regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity	g.chr12:58177051_58177052insG	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58177055_58177055dupG						RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.G87fs|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.GG72fs|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000540550.1_Frame_Shift_Ins_p.GG72fs	p.GG72fs	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN			2	429_430	+	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		72					Q9H749|Q9Y3W2	Frame_Shift_Ins	INS	ENST00000300209.8	37	c.216_217insG	CCDS8957.1																																																																																				0.569	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		9	1210						9	1210	---	---	---	---
IRAK3	11213	broad.mit.edu	37	12	66610954	66610954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:66610954delA	ENST00000261233.4	+	6	1013	c.592delA	c.(592-594)aaafs	p.K199fs	IRAK3_ENST00000457197.2_Frame_Shift_Del_p.K138fs	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATGTAGGAGAAAAAAATGCA	0.363																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(592-594)aafs		interleukin-1 receptor-associated kinase 3							310.0	330.0	323.0					12																	66610954		2203	4300	6503	SO:0001589	frameshift_variant	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66610954delA	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.592delA	12.37:g.66610954delA	ENSP00000261233:p.Lys199fs					IRAK3_ENST00000457197.2_Frame_Shift_Del_p.K138fs	p.K199fs	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	6	1013	+			199			Protein kinase.			Frame_Shift_Del	DEL	ENST00000261233.4	37	c.592delA	CCDS8975.1																																																																																				0.363	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			7	2389						7	2389	---	---	---	---
E2F7	144455	broad.mit.edu	37	12	77449827	77449827	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:77449827delT	ENST00000322886.7	-	3	412	c.177delA	c.(175-177)aaafs	p.K59fs	E2F7_ENST00000416496.2_Frame_Shift_Del_p.K59fs	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	59					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K59fs*29(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGGAGTAAATTTTTTTTGCT	0.363																																						ENST00000322886.7																			2	Deletion - Frameshift(2)	p.K59fs*29(2)	large_intestine(2)	central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(175-177)aafs		E2F transcription factor 7							82.0	84.0	83.0					12																	77449827		2203	4300	6503	SO:0001589	frameshift_variant	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77449827delT	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.177delA	12.37:g.77449827delT	ENSP00000323246:p.Lys59fs					E2F7_ENST00000416496.2_Frame_Shift_Del_p.K59fs	p.K59fs	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			3	412	-			59					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Frame_Shift_Del	DEL	ENST00000322886.7	37	c.177delA	CCDS9016.1																																																																																				0.363	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		8	825						8	825	---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102158002	102158002	+	Frame_Shift_Del	DEL	T	T	-	rs281865000		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:102158002delT	ENST00000299314.7	-	13	2955	c.2693delA	c.(2692-2694)aagfs	p.K898fs	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	898					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTGGAAATACTTTTTTTTCTC	0.373																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37	GRCh37	CD090839	GNPTAB	D		c.(2692-2694)agfs		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							217.0	214.0	215.0					12																	102158002		2203	4300	6503	SO:0001589	frameshift_variant	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158002delT	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2693delA	12.37:g.102158002delT	ENSP00000299314:p.Lys898fs						p.K898fs	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2955	-			898					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Frame_Shift_Del	DEL	ENST00000299314.7	37	c.2693delA	CCDS9088.1																																																																																				0.373	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			8	1086						8	1086	---	---	---	---
CUX2	23316	broad.mit.edu	37	12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)tccdel	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2422-2424)del		cut-like homeobox 2				26,3520		1,24,1748						0.6	1.0			21	65,7379		5,55,3662	no	coding	CUX2	NM_015267.3		6,79,5410	A1A1,A1R,RR		0.8732,0.7332,0.828				91,10899				SO:0001651	inframe_deletion	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758235_111758237delTCC	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2422_2424delTCC	12.37:g.111758244_111758246delTCC	ENSP00000261726:p.Ser813del						p.S813del	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2576_2578	+			813			Poly-Ser.		A7E2Y4	In_Frame_Del	DEL	ENST00000261726.6	37	c.2422_2424delTCC	CCDS41837.1																																																																																				0.749	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		7	389						7	389	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124848228	124848228	+	Frame_Shift_Del	DEL	G	G	-	rs12321697		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:124848228delG	ENST00000405201.1	-	21	2925	c.2925delC	c.(2923-2925)cccfs	p.P975fs	NCOR2_ENST00000429285.2_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000356219.3_Frame_Shift_Del_p.P975fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.P958fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.P528fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.P957fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	975					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CACTCACGATGGGGGGGATGG	0.652																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2923-2925)ccfs		nuclear receptor corepressor 2							63.0	84.0	77.0					12																	124848228		1997	4147	6144	SO:0001589	frameshift_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124848228delG	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2925delC	12.37:g.124848228delG	ENSP00000384018:p.Pro975fs					NCOR2_ENST00000404621.1_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.P528fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.P958fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.P975fs	p.P975fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	22	3080	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		975					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Del	DEL	ENST00000405201.1	37	c.2925delC	CCDS41858.2																																																																																				0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		9	1360						9	1360	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132466646	132466646	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:132466646delC	ENST00000333577.4	+	6	1769	c.1660delC	c.(1660-1662)cccfs	p.P555fs	EP400_ENST00000332482.4_Frame_Shift_Del_p.P482fs|EP400_ENST00000389561.2_Frame_Shift_Del_p.P519fs|EP400_ENST00000389562.2_Frame_Shift_Del_p.P518fs|EP400_ENST00000330386.6_Frame_Shift_Del_p.P519fs			Q96L91	EP400_HUMAN	E1A binding protein p400	555					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGAGGAATGCCCCCCACGCC	0.587																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1660-1662)ccfs		E1A binding protein p400							125.0	141.0	135.0					12																	132466646		2186	4265	6451	SO:0001589	frameshift_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466646delC	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1660delC	12.37:g.132466646delC	ENSP00000333602:p.Pro555fs					EP400_ENST00000330386.6_Frame_Shift_Del_p.P519fs|EP400_ENST00000332482.4_Frame_Shift_Del_p.P482fs|EP400_ENST00000389561.2_Frame_Shift_Del_p.P519fs|EP400_ENST00000389562.2_Frame_Shift_Del_p.P518fs	p.P555fs			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1769	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	555					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Frame_Shift_Del	DEL	ENST00000333577.4	37	c.1660delC																																																																																					0.587	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	1733						7	1733	---	---	---	---
LATS2	26524	broad.mit.edu	37	13	21619977	21619979	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr13:21619977_21619979delCTG	ENST00000382592.4	-	2	592_594	c.187_189delCAG	c.(187-189)cagdel	p.Q63del	LATS2_ENST00000542899.1_In_Frame_Del_p.Q63del	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TGGCTCTCATCTGCTGCTGCTGC	0.532																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(187-189)del		large tumor suppressor kinase 2																																				SO:0001651	inframe_deletion	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21619977_21619979delCTG	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.187_189delCAG	13.37:g.21619986_21619988delCTG	ENSP00000372035:p.Gln63del					LATS2_ENST00000542899.1_In_Frame_Del_p.Q63del	p.Q63del	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	2	592_594	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	63						In_Frame_Del	DEL	ENST00000382592.4	37	c.187_189delCAG	CCDS9294.1																																																																																				0.532	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			7	550						7	550	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-	rs371570689		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aaafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428																																						ENST00000281589.3																			1	Deletion - Frameshift(1)	p.F335fs*19(1)	ovary(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(997-999)aafs		poly(A) binding protein, cytoplasmic 3							162.0	159.0	160.0					13																	25671333		2203	4300	6503	SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671333delA	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.997delA	13.37:g.25671333delA	ENSP00000281589:p.Lys333fs						p.K333fs	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1034	+		Lung SC(185;0.0225)|Breast(139;0.0602)	333			RRM 4.		Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	c.997delA	CCDS9311.1																																																																																				0.428	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		12	1305						12	1305	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671804	25671806	+	In_Frame_Del	DEL	GCT	GCT	-	rs537105482|rs150143049|rs558565724	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr13:25671804_25671806delGCT	ENST00000281589.3	+	1	1505_1507	c.1468_1470delGCT	c.(1468-1470)gctdel	p.A496del		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	496					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGTCctgcagctgctgctgctg	0.532																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1468-1470)del		poly(A) binding protein, cytoplasmic 3																																				SO:0001651	inframe_deletion	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671804_25671806delGCT	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1468_1470delGCT	13.37:g.25671813_25671815delGCT	ENSP00000281589:p.Ala496del						p.A496del	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1505_1507	+		Lung SC(185;0.0225)|Breast(139;0.0602)	496					Q8NHV0|Q9H086	In_Frame_Del	DEL	ENST00000281589.3	37	c.1468_1470delGCT	CCDS9311.1																																																																																				0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		17	555						17	555	---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33344489	33344489	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr13:33344489delA	ENST00000315596.10	+	32	4041	c.3855delA	c.(3853-3855)ccafs	p.P1285fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1285					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ATAGTCCGCCAAAAAAGGGTA	0.408																																						ENST00000315596.10																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(3853-3855)ccfs		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							57.0	57.0	57.0					13																	33344489		1843	4080	5923	SO:0001589	frameshift_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33344489delA	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3855delA	13.37:g.33344489delA	ENSP00000313851:p.Pro1285fs						p.P1285fs	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	32	4041	+		Lung SC(185;0.0367)	1285					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Frame_Shift_Del	DEL	ENST00000315596.10	37	c.3855delA	CCDS41878.1																																																																																				0.408	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		7	450						7	450	---	---	---	---
ELF1	1997	broad.mit.edu	37	13	41523943	41523943	+	Splice_Site	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr13:41523943delT	ENST00000239882.3	-	5	842	c.528delA	c.(526-528)aaa>aa	p.K176fs	ELF1_ENST00000442101.1_Splice_Site_p.K152fs|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	176					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCCACCTACCTTTTTTCCTCT	0.423																																						ENST00000239882.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.e5+1		E74-like factor 1 (ets domain transcription factor)							197.0	194.0	195.0					13																	41523943		2203	4300	6503	SO:0001630	splice_region_variant	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41523943delT	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.529+1A>-	13.37:g.41523943delT						ELF1_ENST00000442101.1_Splice_Site_p.K152_splice|ELF1_ENST00000498824.1_5'UTR	p.K176_splice	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	5	842	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	176					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Splice_Site	DEL	ENST00000239882.3	37	c.529_splice	CCDS9374.1																																																																																				0.423	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373	Frame_Shift_Del	7	1252						7	1252	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaacagfs	p.Q728fs	RBM26_ENST00000267229.7_Frame_Shift_Ins_p.Q701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.Q704fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2179-2184)aaaggafs		RNA binding motif protein 26																																				SO:0001589	frameshift_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79918806_79918807insT	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2182dupA	13.37:g.79918815_79918815dupT	ENSP00000387531:p.Gln728fs					RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs	p.G728fs			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	15	2621_2622	-		Acute lymphoblastic leukemia(28;0.0279)	728					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Frame_Shift_Ins	INS	ENST00000438737.2	37	c.2181_2182insA																																																																																					0.332	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		10	276						10	276	---	---	---	---
ZIC2	7546	broad.mit.edu	37	13	100635045	100635045	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr13:100635045delT	ENST00000376335.3	+	1	1020	c.727delT	c.(727-729)tttfs	p.F244fs		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	244	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ccCCGGTGCCTTTTTCCGCTA	0.562																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(727-729)ttfs		Zic family member 2							52.0	58.0	56.0					13																	100635045		2203	4300	6503	SO:0001589	frameshift_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635045delT	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.727delT	13.37:g.100635045delT	ENSP00000365514:p.Phe244fs						p.F244fs	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	1020	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		244			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).		Q5VYA9|Q9H309	Frame_Shift_Del	DEL	ENST00000376335.3	37	c.727delT	CCDS9495.1																																																																																				0.562	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		7	739						7	739	---	---	---	---
KIAA0391	9692	broad.mit.edu	37	14	35592700	35592700	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:35592700delT	ENST00000557565.1	+	2	630	c.249delT	c.(247-249)catfs	p.H83fs	PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000605870.1_Intron|PPP2R3C_ENST00000261475.5_5'Flank	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	83					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTCCTCATTTTTTTTTAG	0.423																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(247-249)cafs		KIAA0391							49.0	48.0	48.0					14																	35592700		2203	4300	6503	SO:0001589	frameshift_variant	9692				tRNA processing	mitochondrion		g.chr14:35592700delT	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.249delT	14.37:g.35592700delT	ENSP00000454657:p.His83fs					KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000603588.1_Intron	p.H83fs			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	630	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		83					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Frame_Shift_Del	DEL	ENST00000557565.1	37	c.249delT	CCDS32063.1																																																																																				0.423	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		11	304						11	304	---	---	---	---
COX16	51241	broad.mit.edu	37	14	70795929	70795930	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:70795929_70795930insT	ENST00000389912.6	-	3	308_309	c.165_166insA	c.(163-168)aaactgfs	p.L56fs	SYNJ2BP-COX16_ENST00000555276.1_RNA|COX16_ENST00000557612.1_5'UTR	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)	56						integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)				large_intestine(1)|lung(2)	3						TTCTCTTTCAGTTTTTTTTCAA	0.292																																						ENST00000389912.6																			0				large_intestine(1)|lung(2)	3						c.(163-168)aatgaafs		COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	51241							g.chr14:70795929_70795930insT	AF151037	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983			20213	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 112"""	C14orf112		11042152, 15596615	Standard	NM_016468		Approved	HSPC203		Q9P0S2	OTTHUMG00000171238	ENST00000389912.6:c.166dupA	14.37:g.70795937_70795937dupT	ENSP00000374562:p.Leu56fs					COX16_ENST00000557612.1_5'UTR|RP11-718G2.3_ENST00000555276.1_RNA	p.NE55fs	NM_016468.6	NP_057552.1					3	308_309	-								A6NDT5|A8K3X8	Frame_Shift_Ins	INS	ENST00000389912.6	37	c.165_166insA	CCDS9802.1																																																																																				0.292	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412470.2	NM_016468		7	390						7	390	---	---	---	---
EML5	161436	broad.mit.edu	37	14	89154769	89154769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:89154769delT	ENST00000380664.5	-	18	2587	c.2588delA	c.(2587-2589)aatfs	p.N863fs	EML5_ENST00000554922.1_Frame_Shift_Del_p.N863fs|EML5_ENST00000352093.5_Intron			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	863						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CATTGTGTCATTTTTCCCCAG	0.393																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2587-2589)atfs		echinoderm microtubule associated protein like 5							265.0	253.0	257.0					14																	89154769		1932	4144	6076	SO:0001589	frameshift_variant	161436					cytoplasm|microtubule		g.chr14:89154769delT	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2588delA	14.37:g.89154769delT	ENSP00000370039:p.Asn863fs					EML5_ENST00000380664.5_Frame_Shift_Del_p.N863fs|EML5_ENST00000352093.5_Intron	p.N863fs	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			18	2836	-			863					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Frame_Shift_Del	DEL	ENST00000380664.5	37	c.2588delA	CCDS45148.1																																																																																				0.393	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			7	1651						7	1651	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_ENST00000555353.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000261302.5_In_Frame_Del_p.360_361SS>S|FOXN3_ENST00000557258.1_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		9	286						9	286	---	---	---	---
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-	rs371331758		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gaggga>gga	p.E89del	IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank|DDX24_ENST00000555054.1_In_Frame_Del_p.E46del|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|IFI27L1_ENST00000557218.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(265-270)gga>g		DEAD (Asp-Glu-Ala-Asp) box helicase 24																																				SO:0001651	inframe_deletion	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545821_94545823delCCT	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.266_268delAGG	14.37:g.94545830_94545832delCCT	ENSP00000328690:p.Glu89del					DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron	p.EG89del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	397_399	-		all_cancers(154;0.12)	89			Poly-Glu.		E7EMJ4|Q4V9L5	In_Frame_Del	DEL	ENST00000330836.5	37	c.266_268delAGG	CCDS9918.1																																																																																				0.443	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		12	909						12	909	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		7	848						7	848	---	---	---	---
INF2	64423	broad.mit.edu	37	14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:105174270_105174271insG	ENST00000392634.4	+	8	1778_1779	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.R556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	556	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1666-1668)ggtfs		inverted formin, FH2 and WH2 domain containing																																				SO:0001589	frameshift_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174270_105174271insG	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1669dupG	14.37:g.105174273_105174273dupG	ENSP00000376410:p.Arg556fs					INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs	p.G556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1778_1779	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	556			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Ins	INS	ENST00000392634.4	37	c.1666_1667insG	CCDS9989.2																																																																																				0.663	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		21	429						21	429	---	---	---	---
BRF1	2972	broad.mit.edu	37	14	105683882	105683882	+	Splice_Site	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:105683882delT	ENST00000546474.1	-	15	16730	c.1771delA	c.(1771-1773)agg>gg	p.R591fs	BRF1_ENST00000392557.4_Splice_Site_p.R387fs|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000327359.3_Splice_Site_p.R476fs|BRF1_ENST00000547530.1_Splice_Site_p.R117fs|BRF1_ENST00000446501.2_Splice_Site_p.R353fs|BRF1_ENST00000379937.2_Splice_Site_p.R564fs|BRF1_ENST00000440513.3_Splice_Site_p.R498fs|BRF1_ENST00000379932.4_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	591					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GGATGGTACCTTTTCCCCACA	0.682																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.e15+1		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							66.0	57.0	60.0					14																	105683882		2203	4300	6503	SO:0001630	splice_region_variant	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105683882delT	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1772+1A>-	14.37:g.105683882delT						BRF1_ENST00000551787.1_Intron|BRF1_ENST00000440513.3_Splice_Site_p.R498_splice|BRF1_ENST00000446501.2_Splice_Site_p.R353_splice|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000327359.3_Splice_Site_p.R476_splice|BRF1_ENST00000392557.4_Splice_Site_p.R387_splice|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000547530.1_Splice_Site_p.R117_splice|BRF1_ENST00000379937.2_Splice_Site_p.R564_splice	p.R591_splice	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	15	16730	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	591					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Splice_Site	DEL	ENST00000546474.1	37	c.1772_splice	CCDS10001.1																																																																																				0.682	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519	Frame_Shift_Del	7	507						7	507	---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22954351	22954353	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:22954351_22954353delAAG	ENST00000313077.7	+	14	1626_1628	c.1501_1503delAAG	c.(1501-1503)aagdel	p.K504del	CYFIP1_ENST00000435939.2_5'Flank|CYFIP1_ENST00000560848.1_In_Frame_Del_p.K504del	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		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;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCAGGCCATCAAGAAGAAGAAGA	0.596																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1501-1503)del		cytoplasmic FMR1 interacting protein 1																																				SO:0001651	inframe_deletion	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22954351_22954353delAAG	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1501_1503delAAG	15.37:g.22954360_22954362delAAG	ENSP00000324549:p.Lys504del					CYFIP1_ENST00000560848.1_In_Frame_Del_p.K504del	p.K504del	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	14	1626_1628	+		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)	504						In_Frame_Del	DEL	ENST00000313077.7	37	c.1501_1503delAAG	CCDS10009.1																																																																																				0.596	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		7	479						7	479	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310193	+	RNA	INS	-	-	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:25310192_25310193insA	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNORD116-5_ENST00000384462.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-7_ENST00000384404.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ATGAGTCCTCCAAAAAAAACAT	0.475																																						ENST00000549804.2																			0																																																			0							g.chr15:25310192_25310193insA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310200_25310200dupA						SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA								0	538	+									RNA	INS	ENST00000549804.2	37																																																																																						0.475	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			11	938						11	938	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25324325	25324325	+	RNA	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:25324325delT	ENST00000546682.1	+	0	0				SNHG14_ENST00000549804.2_RNA|SNORD116-14_ENST00000383894.1_RNA|SNORD116-12_ENST00000384468.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNORD116-13_ENST00000384408.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACAACTGTCATTTTTTTTGAT	0.478																																						ENST00000549804.2																			0																	12,2458		5,2,1228	82.0	80.0	80.0			0.2	0.1	15		82	18,4858		8,2,2428	no	intergenic				13,4,3656	A1A1,A1R,RR		0.3692,0.4858,0.4084			25324325	30,7316	876	1991	2867			0							g.chr15:25324325delT			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25324325delT														0	1377	+									RNA	DEL	ENST00000546682.1	37																																																																																						0.478	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			8	427						8	427	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25432666	25432666	+	RNA	DEL	G	G	-	rs368646014		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:25432666delG	ENST00000424208.1	+	0	761				SNHG14_ENST00000414175.1_RNA|SNORD115-9_ENST00000362912.1_RNA|SNORD115-10_ENST00000365073.1_RNA|SNORD115-11_ENST00000363616.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTGTGTGGTGGGGGGTGCCC	0.552																																						ENST00000424208.1																			0																				277.0	278.0	278.0					15																	25432666		876	1991	2867			0							g.chr15:25432666delG			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25432666delG								NR_003305.1						0	761	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.552	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			11	1863						11	1863	---	---	---	---
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-	rs371085676|rs377432895	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558527.1_5'UTR	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		9	499						9	499	---	---	---	---
SPINT1	6692	broad.mit.edu	37	15	41149075	41149077	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:41149075_41149077delCAC	ENST00000344051.4	+	11	1726_1728	c.1492_1494delCAC	c.(1492-1494)cacdel	p.H501del	SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del|SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	501					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTTCCACGGACACCACCACCACC	0.586																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(1492-1494)del		serine peptidase inhibitor, Kunitz type 1																																				SO:0001651	inframe_deletion	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41149075_41149077delCAC		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1492_1494delCAC	15.37:g.41149084_41149086delCAC	ENSP00000342098:p.His501del					SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del|SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del	p.H501del			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	11	1726_1728	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	501					Q7Z7D2	In_Frame_Del	DEL	ENST00000344051.4	37	c.1492_1494delCAC	CCDS10067.1																																																																																				0.586	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		8	1783						8	1783	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53992038	53992038	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:53992038delA	ENST00000396328.1	-	13	1913	c.1674delT	c.(1672-1674)tttfs	p.F558fs	WDR72_ENST00000559418.1_Frame_Shift_Del_p.F568fs|WDR72_ENST00000557913.1_Frame_Shift_Del_p.F555fs|WDR72_ENST00000360509.5_Frame_Shift_Del_p.F558fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	558										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCCTCACAGGAAAAAGGTGCT	0.463																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1672-1674)ttfs		WD repeat domain 72							121.0	129.0	126.0					15																	53992038		2194	4293	6487	SO:0001589	frameshift_variant	256764							g.chr15:53992038delA	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1674delT	15.37:g.53992038delA	ENSP00000379619:p.Phe558fs					WDR72_ENST00000360509.5_Frame_Shift_Del_p.F558fs|WDR72_ENST00000557913.1_Frame_Shift_Del_p.F555fs|WDR72_ENST00000559418.1_Frame_Shift_Del_p.F568fs	p.F558fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	13	1913	-			558					Q7Z3I3|Q8N8X2	Frame_Shift_Del	DEL	ENST00000396328.1	37	c.1674delT	CCDS10151.1																																																																																				0.463	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		9	1257						9	1257	---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-	rs369163190		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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		7	661						7	661	---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78755395	78755395	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:78755395delT	ENST00000258886.8	+	3	387	c.238delT	c.(238-240)tttfs	p.F81fs	IREB2_ENST00000560440.1_Frame_Shift_Del_p.F81fs	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	81					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGAAGTGCCCTTTTTCCCTGC	0.358																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(238-240)ttfs		iron-responsive element binding protein 2							227.0	211.0	216.0					15																	78755395		2196	4293	6489	SO:0001589	frameshift_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78755395delT	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.238delT	15.37:g.78755395delT	ENSP00000258886:p.Phe81fs					IREB2_ENST00000560440.1_Frame_Shift_Del_p.F81fs	p.F81fs	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	3	387	+			81					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Frame_Shift_Del	DEL	ENST00000258886.8	37	c.238delT	CCDS10302.1																																																																																				0.358	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		7	1110						7	1110	---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	437259	437260	+	5'Flank	DEL	AT	AT	-	rs148097303		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:437259_437260delAT	ENST00000476735.1	-	0	0				Z97634.3_ENST00000412293.1_RNA			Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CTAATTCTAAATATATATATAT	0.421																																						ENST00000412293.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:437259_437260delAT	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996		16.37:g.437269_437270delAT	Exception_encountered							NR_024453.2						0	521	+								D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	RNA	DEL	ENST00000476735.1	37																																																																																						0.421	TMEM8A-007	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000313680.1	NM_021259		23	188						23	188	---	---	---	---
WDR90	197335	broad.mit.edu	37	16	709106	709106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:709106delC	ENST00000293879.4	+	25	3032	c.3032delC	c.(3031-3033)gccfs	p.A1011fs	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Frame_Shift_Del_p.A1011fs			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TTCCCCGGGGCCCCCCCAGCC	0.657																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(3031-3033)gcfs		WD repeat domain 90							45.0	56.0	53.0					16																	709106		1960	4181	6141	SO:0001589	frameshift_variant	197335							g.chr16:709106delC	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3032delC	16.37:g.709106delC	ENSP00000293879:p.Ala1011fs					WDR90_ENST00000293879.4_Frame_Shift_Del_p.A1011fs	p.A1011fs	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			25	3124	+		Hepatocellular(780;0.0218)	1011					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Frame_Shift_Del	DEL	ENST00000293879.4	37	c.3032delC	CCDS42092.1																																																																																				0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		8	655						8	655	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		7	1610						7	1610	---	---	---	---
NAGPA	51172	broad.mit.edu	37	16	5083678	5083679	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:5083678_5083679delGC	ENST00000312251.3	-	2	156_157	c.137_138delGC	c.(136-138)cgcfs	p.R46fs	NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|ALG1_ENST00000588623.1_5'Flank|NAGPA_ENST00000564922.1_5'UTR|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	46					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCGGGGGAGGCGCGCGCGCGC	0.767																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(136-138)cfs		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)			96,2314		9,78,1118						-9.7	0.0			9	252,5272		19,214,2529	no	frameshift	NAGPA	NM_016256.3		28,292,3647	A1A1,A1R,RR		4.5619,3.9834,4.3862				348,7586				SO:0001589	frameshift_variant	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5083678_5083679delGC	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.137_138delGC	16.37:g.5083688_5083689delGC	ENSP00000310998:p.Arg46fs					RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs	p.R46fs	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			2	156_157	-			46					B2RAS1|Q96EJ8	Frame_Shift_Del	DEL	ENST00000312251.3	37	c.137_138delGC	CCDS10527.1																																																																																				0.767	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		7	142						7	142	---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	CTG	-	rs373504496		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:28931200_28931202delCTG	ENST00000358201.4	-	3	925_927	c.337_339delCAG	c.(337-339)cagdel	p.Q113del	RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	113	Poly-Gln.				endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.64																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(337-339)del		rabaptin, RAB GTPase binding effector protein 2																																				SO:0001651	inframe_deletion	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28931200_28931202delCTG	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.337_339delCAG	16.37:g.28931209_28931211delCTG	ENSP00000350934:p.Gln113del					RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del	p.Q113del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			3	925_927	-			113			Poly-Gln.			In_Frame_Del	DEL	ENST00000358201.4	37	c.337_339delCAG	CCDS42140.1																																																																																				0.640	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		7	367						7	367	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647495	33647495	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:33647495delC	ENST00000558425.1	-	2	104	c.105delG	c.(103-105)gggfs	p.G35fs																								GTCTCAGGGACCCCCCAGGCT	0.567																																						ENST00000558425.1																			0											c.(103-105)ggfs						30,3446		15,0,1723	85.0	98.0	94.0			1.6	0.1	16		95	87,7733		43,1,3866	no	intergenic				58,1,5589	A1A1,A1R,RR		1.1125,0.8631,1.0358			33647495	117,11179	1831	4092	5923	SO:0001589	frameshift_variant	0							g.chr16:33647495delC																												ENST00000558425.1:c.105delG	16.37:g.33647495delC	ENSP00000475107:p.Gly35fs						p.G35fs							2	104	-									Frame_Shift_Del	DEL	ENST00000558425.1	37	c.105delG																																																																																					0.567	RP11-812E19.9-201	KNOWN	basic	protein_coding	protein_coding				7	1162						7	1162	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129|rs372299573	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_In_Frame_Del_p.S62del|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|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)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.S159G(1)	prostate(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(184-186)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175656_51175658delGCT	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000541611.1_Intron	p.S62del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	615_617	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.184_186delAGC	CCDS10747.1																																																																																				0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		7	382						7	382	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		16	606						16	606	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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		7	2341						7	2341	---	---	---	---
WDR59	79726	broad.mit.edu	37	16	74976691	74976691	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:74976691delT	ENST00000262144.6	-	7	609	c.479delA	c.(478-480)aatfs	p.N160fs		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	160										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCAGTTAGCATTTTTTTTATT	0.502																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(478-480)atfs		WD repeat domain 59							84.0	76.0	79.0					16																	74976691		2198	4300	6498	SO:0001589	frameshift_variant	79726							g.chr16:74976691delT	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.479delA	16.37:g.74976691delT	ENSP00000262144:p.Asn160fs						p.N160fs	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			7	609	-			160					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Frame_Shift_Del	DEL	ENST00000262144.6	37	c.479delA	CCDS32488.1																																																																																				0.502	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		8	434						8	434	---	---	---	---
SPG7	6687	broad.mit.edu	37	16	89613072	89613073	+	Frame_Shift_Ins	INS	-	-	G	rs111475461	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:89613072_89613073insG	ENST00000268704.2	+	11	1471_1472	c.1456_1457insG	c.(1456-1458)cggfs	p.R486fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	486			R -> Q (in dbSNP:rs111475461).		anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCAGGAGAGGCGGGAGATTTTT	0.594																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1456-1458)ggafs		spastic paraplegia 7 (pure and complicated autosomal recessive)																																				SO:0001589	frameshift_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89613072_89613073insG	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1459dupG	16.37:g.89613075_89613075dupG	ENSP00000268704:p.Arg486fs						p.G486fs	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	11	1471_1472	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	486		R -> Q.			O75756|Q2TB70|Q58F00|Q96IB0	Frame_Shift_Ins	INS	ENST00000268704.2	37	c.1456_1457insG	CCDS10977.1																																																																																				0.594	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		27	1022						27	1022	---	---	---	---
BCL6B	255877	broad.mit.edu	37	17	6927858	6927858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:6927858delC	ENST00000293805.5	+	4	632	c.540delC	c.(538-540)ggcfs	p.G180fs	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	180	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S183fs*6(1)		skin(1)	1						GCAGTCAAGGCCCCCCCAGTC	0.617																																						ENST00000293805.5																			1	Insertion - Frameshift(1)	p.S183fs*6(1)	lung(1)	skin(1)	1						c.(538-540)ggfs		B-cell CLL/lymphoma 6, member B							90.0	108.0	103.0					17																	6927858		1948	4151	6099	SO:0001589	frameshift_variant	255877					nucleus	zinc ion binding	g.chr17:6927858delC	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.540delC	17.37:g.6927858delC	ENSP00000293805:p.Gly180fs					BCL6B_ENST00000572216.1_3'UTR	p.G180fs	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			4	632	+			180			Pro-rich.		Q6PCB4	Frame_Shift_Del	DEL	ENST00000293805.5	37	c.540delC	CCDS42248.1																																																																																				0.617	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		7	1238						7	1238	---	---	---	---
CTDNEP1	23399	broad.mit.edu	37	17	7150149	7150149	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:7150149delA	ENST00000573600.1	-	5	742	c.321delT	c.(319-321)tttfs	p.F107fs	CTDNEP1_ENST00000572043.1_5'UTR|CTDNEP1_ENST00000574322.1_Frame_Shift_Del_p.F107fs|CTDNEP1_ENST00000318988.6_Frame_Shift_Del_p.F107fs|CTD-2545G14.7_ENST00000570760.2_5'Flank|RP1-4G17.5_ENST00000577138.1_3'UTR			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	107	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)	p.F106fs(2)		central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCTTATGTACAAAAAACCGGA	0.493																																						ENST00000573600.1																			2	Complex(2)	p.F106fs(2)	central_nervous_system(2)	central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(319-321)ttfs		CTD nuclear envelope phosphatase 1							147.0	170.0	162.0					17																	7150149		2203	4300	6503	SO:0001589	frameshift_variant	23399				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity	g.chr17:7150149delA	AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	19085	protein-coding gene	gene with protein product	"""C-terminal domain nuclear envelope phosphatase 1"""	610684	"""dullard homolog (Xenopus laevis)"""	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.321delT	17.37:g.7150149delA	ENSP00000461749:p.Phe107fs					CTDNEP1_ENST00000318988.6_Frame_Shift_Del_p.F107fs|CTDNEP1_ENST00000574322.1_Frame_Shift_Del_p.F107fs|RP1-4G17.5_ENST00000577138.1_3'UTR|CTDNEP1_ENST00000572043.1_5'UTR	p.F107fs			O95476	CNEP1_HUMAN			5	742	-			107			FCP1 homology.		D3DTN7|Q96GQ9	Frame_Shift_Del	DEL	ENST00000573600.1	37	c.321delT	CCDS11093.1																																																																																				0.493	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343		7	2147						7	2147	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000360416.3_In_Frame_Del_p.E967del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.350	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			7	281						7	281	---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:17699993_17699995delGCA	ENST00000353383.1	+	3	4200_4202	c.3731_3733delGCA	c.(3730-3735)cgcagc>cgc	p.S1249del	RAI1_ENST00000261641.6_In_Frame_Del_p.S1249del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1249	Poly-Ser.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TTGCGGAGCCGCAGCAGCAGCAG	0.626																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(3730-3735)cgc>c		retinoic acid induced 1																																				SO:0001651	inframe_deletion	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699993_17699995delGCA	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3731_3733delGCA	17.37:g.17700002_17700004delGCA	ENSP00000323074:p.Ser1249del					RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del	p.RS1244del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4200_4202	+			1244			Poly-Ser.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	In_Frame_Del	DEL	ENST00000353383.1	37	c.3731_3733delGCA	CCDS11188.1																																																																																				0.626	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		8	414						8	414	---	---	---	---
MIEF2	125170	broad.mit.edu	37	17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cggctg>cgg	p.L360del	MIEF2_ENST00000395706.2_In_Frame_Del_p.L371del|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	360					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.L356R(1)									CTCGCCGGCGGCTGCTGCTGCTG	0.685																																						ENST00000323019.4																			1	Substitution - Missense(1)	p.L356R(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1063-1068)cgg>cg																																						SO:0001651	inframe_deletion	0					integral to membrane	protein binding	g.chr17:18167778_18167780delGCT	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1065_1067delGCT	17.37:g.18167787_18167789delGCT	ENSP00000323591:p.Leu360del					SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del|SMCR7_ENST00000395704.4_3'UTR	p.RL355del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1276_1278	+	all_neural(463;0.228)		355					J3KPT3|Q6ZRD4|Q96N07	In_Frame_Del	DEL	ENST00000323019.4	37	c.1065_1067delGCT	CCDS11193.1																																																																																				0.685	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		16	557						16	557	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41246532	41246532	+	Frame_Shift_Del	DEL	T	T	-	rs80357911|rs80359872|rs587781737|rs80357618		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:41246532delT	ENST00000357654.3	-	10	1134	c.1016delA	c.(1015-1017)aagfs	p.K339fs	BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Frame_Shift_Del_p.K43fs|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.K292fs|BRCA1_ENST00000354071.3_Frame_Shift_Del_p.K339fs|BRCA1_ENST00000346315.3_Frame_Shift_Del_p.K339fs|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.K339fs	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	339					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAGATCTACCTTTTTTTCTGT	0.438			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120	GRCh37	CD951606	BRCA1	D	rs80357618	c.(127-129)agfs	Homologous recombination	breast cancer 1, early onset							207.0	194.0	198.0					17																	41246532		2203	4300	6503	SO:0001589	frameshift_variant	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246532delT	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1016delA	17.37:g.41246532delT	ENSP00000350283:p.Lys339fs	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Frame_Shift_Del_p.K339fs|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.K339fs|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.K292fs|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000357654.3_Frame_Shift_Del_p.K339fs|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000354071.3_Frame_Shift_Del_p.K339fs|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000468300.1_Intron	p.K43fs	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1155	-		Breast(137;0.000717)	339					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Del	DEL	ENST00000357654.3	37	c.128delA	CCDS11453.1																																																																																				0.438	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		7	1303						7	1303	---	---	---	---
RP11-156P1.3	0	broad.mit.edu	37	17	45128628	45128629	+	RNA	INS	-	-	T	rs532483899	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:45128628_45128629insT	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							ATTCTGGTGTGtttttttttgt	0.337																																						ENST00000575173.1																			0																																																			0							g.chr17:45128628_45128629insT																													17.37:g.45128637_45128637dupT														0	418	-									RNA	INS	ENST00000575173.1	37																																																																																						0.337	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			9	354						9	354	---	---	---	---
PPM1D	8493	broad.mit.edu	37	17	58740624	58740624	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:58740624delA	ENST00000305921.3	+	6	1761	c.1529delA	c.(1528-1530)caafs	p.Q510fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	510					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.N512fs*2(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GTCATGGACCAAAAAAATTTG	0.378											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			1	Deletion - Frameshift(1)	p.N512fs*2(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1528-1530)cafs		protein phosphatase, Mg2+/Mn2+ dependent, 1D							71.0	73.0	72.0					17																	58740624		2203	4300	6503	SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740624delA	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1529delA	17.37:g.58740624delA	ENSP00000306682:p.Gln510fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.Q510fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1761	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		510					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1529delA	CCDS11625.1																																																																																				0.378	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		10	681						10	681	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	0							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			7	39						7	39	---	---	---	---
RP11-51L5.5	0	broad.mit.edu	37	17	60366593	60366594	+	RNA	INS	-	-	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:60366593_60366594insA	ENST00000602493.1	-	0	430																											GTTGAGAGAAGAAAAAAAAAAG	0.272																																						ENST00000602493.1																			0																																																			0							g.chr17:60366593_60366594insA																													17.37:g.60366603_60366603dupA														0	430	-									RNA	INS	ENST00000602493.1	37																																																																																						0.272	RP11-51L5.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467668.1			7	99						7	99	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141032	66141032	+	RNA	DEL	C	C	-	rs76883902|rs370970351|rs372081386	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:66141032delC	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAAAAAAAAACATAAGCCAAA	0.338																																						ENST00000590019.1																			0																																																			0							g.chr17:66141032delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141032delC														0	70	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.338	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			14	233						14	233	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs199734221		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr18:112519_112520insA	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCAGCTCCCCCGGGGCCTCCGT	0.53																																						ENST00000576266.1																			0																																																			0							g.chr18:112519_112520insA			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112519_112520insA														0	153_154	+									RNA	INS	ENST00000608049.1	37																																																																																						0.530	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			9	119						9	119	---	---	---	---
DSC3	1825	broad.mit.edu	37	18	28581674	28581674	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr18:28581674delA	ENST00000360428.4	-	14	2225	c.2145delT	c.(2143-2145)tttfs	p.F715fs	DSC3_ENST00000434452.1_Frame_Shift_Del_p.F715fs	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	715					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAGTTGCACCAAAAACTCCAC	0.289																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2143-2145)ttfs		desmocollin 3							80.0	83.0	82.0					18																	28581674		2203	4297	6500	SO:0001589	frameshift_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28581674delA	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2145delT	18.37:g.28581674delA	ENSP00000353608:p.Phe715fs					DSC3_ENST00000360428.4_Frame_Shift_Del_p.F715fs	p.F715fs	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		14	2299	-			715					A6NN35|Q14200|Q9HAZ9	Frame_Shift_Del	DEL	ENST00000360428.4	37	c.2145delT	CCDS32810.1																																																																																				0.289	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		7	590						7	590	---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(25-27)ggc>GGCggc	p.9_9G>GG		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	9	Poly-Gly.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772														1448	0.289137	0.0772	0.3199	5008	,	,		6733	0.3968		0.4165	False		,,,				2504	0.3119					ENST00000316249.3																			2	Insertion - In frame(2)	p.P8_G9insG(2)	upper_aerodigestive_tract(2)	breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(22-27)ccgcgg>ccGGCgcgg		potassium voltage-gated channel, subfamily G, member 2																																				SO:0001652	inframe_insertion	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623691_77623692insGGC	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.34_36dupGGC	18.37:g.77623698_77623700dupGGC	ENSP00000315654:p.Gly13dup						p.8_9PR>PAR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	24_25	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	8						In_Frame_Ins	INS	ENST00000316249.3	37	c.24_25insGGC	CCDS12019.1																																																																																				0.772	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		6	10						6	10	---	---	---	---
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-	rs564151103	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		9	349						9	349	---	---	---	---
CCDC151	115948	broad.mit.edu	37	19	11541818	11541818	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:11541818delA	ENST00000356392.4	-	2	354	c.267delT	c.(265-267)tttfs	p.F89fs	CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000591179.1_Frame_Shift_Del_p.F89fs|CCDC151_ENST00000545100.1_Frame_Shift_Del_p.F35fs	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	89										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GAGAGCTCTCAAAAAAAGCCT	0.537																																						ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(265-267)ttfs		coiled-coil domain containing 151							117.0	116.0	116.0					19																	11541818		1910	4116	6026	SO:0001589	frameshift_variant	115948							g.chr19:11541818delA		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.267delT	19.37:g.11541818delA	ENSP00000348757:p.Phe89fs					CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000545100.1_Frame_Shift_Del_p.F35fs|CCDC151_ENST00000591179.1_Frame_Shift_Del_p.F89fs	p.F89fs	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN			2	354	-			89					B4DXT0|Q96CG5	Frame_Shift_Del	DEL	ENST00000356392.4	37	c.267delT	CCDS42501.1																																																																																				0.537	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		8	1196						8	1196	---	---	---	---
CCDC130	81576	broad.mit.edu	37	19	13873132	13873134	+	In_Frame_Del	DEL	AGG	AGG	-	rs148655062		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:13873132_13873134delAGG	ENST00000586600.1	+	10	1096_1098	c.593_595delAGG	c.(592-597)caggag>cag	p.E202del	MRI1_ENST00000040663.6_5'Flank|CCDC130_ENST00000587019.1_3'UTR|MRI1_ENST00000319545.8_5'Flank|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		8	993						8	993	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19136394	19136394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:19136394delT	ENST00000601879.1	-	3	1060	c.763delA	c.(763-765)atafs	p.I255fs	SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000598202.1_5'UTR			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	255					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACGGTGGGTATTTTTTTTGTG	0.502																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(763-765)tafs		SURP and G patch domain containing 2							168.0	156.0	160.0					19																	19136394		2203	4300	6503	SO:0001589	frameshift_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136394delT	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.763delA	19.37:g.19136394delT	ENSP00000472286:p.Ile255fs					SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000598202.1_5'UTR	p.I255fs			Q8IX01	SUGP2_HUMAN			3	1060	-			255					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Frame_Shift_Del	DEL	ENST00000601879.1	37	c.763delA	CCDS12392.1																																																																																				0.502	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		10	920						10	920	---	---	---	---
LOC284395	284395	broad.mit.edu	37	19	29851033	29851033	+	RNA	DEL	A	A	-	rs398101174|rs79641343|rs35797097	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:29851033delA	ENST00000582581.1	-	0	2030					NR_040029.1																						caaatattttaaaaaaaagag	0.343													?|AAAAAAAA|AAAAAAA|unsure	2199	0.439097	0.553	0.3487	5008	,	,		18442	0.5526		0.3877	False		,,,				2504	0.2853					ENST00000582581.1																			0																																																			0							g.chr19:29851033delA																													19.37:g.29851033delA								NR_040029.1						0	2030	-									RNA	DEL	ENST00000582581.1	37																																																																																						0.343	CTC-525D6.1-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000444111.1			8	1157						8	1157	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(490-495)ccc>c		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del	p.PS164del			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	569_571	+	all_cancers(60;3.4e-06)		120					Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.491_493delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		11	127						11	127	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:38948159_38948160delTG	ENST00000359596.3	+	17	1814_1815	c.1814_1815delTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000355481.4_Frame_Shift_Del_p.L605fs			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTATGCTCCCTGTGTGTGTGTA	0.53																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(1813-1815)cfs		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)																																			SO:0001589	frameshift_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38948159_38948160delTG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1814_1815delTG	19.37:g.38948167_38948168delTG	ENSP00000352608:p.Leu605fs					RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs	p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		17	1945_1946	+	all_cancers(60;7.91e-06)		605			B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Del	DEL	ENST00000359596.3	37	c.1814_1815delTG	CCDS33011.1																																																																																				0.530	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			11	1505						11	1505	---	---	---	---
TIMM50	92609	broad.mit.edu	37	19	39972604	39972604	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:39972604delA	ENST00000607714.1	+	2	212	c.190delA	c.(190-192)aaafs	p.K65fs	TIMM50_ENST00000314349.4_Frame_Shift_Del_p.K168fs|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000544017.1_5'UTR			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	65					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTATGCCAAAAAAGTTGC	0.607																																						ENST00000314349.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(499-501)aafs		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							114.0	123.0	120.0					19																	39972604		2203	4300	6503	SO:0001589	frameshift_variant	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39972604delA	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.190delA	19.37:g.39972604delA	ENSP00000475531:p.Lys65fs					TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000607714.1_Frame_Shift_Del_p.K65fs	p.K168fs	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	632	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		65			FCP1 homology.		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Frame_Shift_Del	DEL	ENST00000607714.1	37	c.499delA																																																																																					0.607	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		9	1015						9	1015	---	---	---	---
LIPE-AS1	100996307	broad.mit.edu	37	19	43136362	43136363	+	RNA	DEL	TG	TG	-	rs142080128		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:43136362_43136363delTG	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1				LIPE antisense RNA 1																		TGAGTATGTATGTGTGTGTGTG	0.505																																						ENST00000594688.1																			0																																																			0							g.chr19:43136362_43136363delTG	AK096849, BM974950		19q13.2	2013-05-21			ENSG00000213904	ENSG00000213904		"""Long non-coding RNAs"""	48589	non-coding RNA	RNA, long non-coding							Standard	NR_073179		Approved				OTTHUMG00000182815		19.37:g.43136372_43136373delTG						LIPE-AS1_ENST00000594624.2_RNA		NR_073179.1						0	1450	+									RNA	DEL	ENST00000594688.1	37																																																																																						0.505	LIPE-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000464099.1	NR_073179		14	229						14	229	---	---	---	---
DHX34	9704	broad.mit.edu	37	19	47883158	47883160	+	In_Frame_Del	DEL	GGA	GGA	-	rs533574046|rs539350022	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:47883158_47883160delGGA	ENST00000328771.4	+	14	3247_3249	c.2898_2900delGGA	c.(2896-2901)ctggag>ctg	p.E971del		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	971					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCAGCAGCTGGAGGAGGAGGAG	0.66																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2896-2901)ctg>ct		DEAH (Asp-Glu-Ala-His) box polypeptide 34																																				SO:0001651	inframe_deletion	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47883158_47883160delGGA	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2898_2900delGGA	19.37:g.47883167_47883169delGGA	ENSP00000331907:p.Glu971del						p.LE966del	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	14	3247_3249	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	966					B4DMY8	In_Frame_Del	DEL	ENST00000328771.4	37	c.2898_2900delGGA	CCDS12700.1																																																																																				0.660	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		7	395						7	395	---	---	---	---
PTH2	113091	broad.mit.edu	37	19	49926531	49926533	+	In_Frame_Del	DEL	CAG	CAG	-	rs200733272|rs371950649	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:49926531_49926533delCAG	ENST00000270631.1	-	1	165_167	c.64_66delCTG	c.(64-66)ctgdel	p.L22del	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		AGGGCACCACcagcagcagcagc	0.69																																						ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)del		parathyroid hormone 2																																				SO:0001651	inframe_deletion	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926531_49926533delCAG	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64_66delCTG	19.37:g.49926540_49926542delCAG	ENSP00000270631:p.Leu22del						p.L22del	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165_167	-			22					Q96DJ4	In_Frame_Del	DEL	ENST00000270631.1	37	c.64_66delCTG	CCDS12763.1																																																																																				0.690	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		12	194						12	194	---	---	---	---
FLT3LG	2323	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-	rs372504451		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|CTD-3148I10.15_ENST00000595815.1_RNA	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	20					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621																																						ENST00000594009.1																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(46-48)del		fms-related tyrosine kinase 3 ligand																																				SO:0001651	inframe_deletion	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49978960_49978962delCTG	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.46_48delCTG	19.37:g.49978969_49978971delCTG	ENSP00000469613:p.Leu20del					FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del	p.L20del	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	2	125_127	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	20					A0AVC2|B9EGH2|Q05C96	In_Frame_Del	DEL	ENST00000594009.1	37	c.46_48delCTG	CCDS12767.1																																																																																				0.621	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			8	434						8	434	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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			17	557						17	557	---	---	---	---
ZNF548	147694	broad.mit.edu	37	19	57908592	57908592	+	Intron	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:57908592delT	ENST00000366197.5	+	2	392				AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000597400.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Intron|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000598895.1_Frame_Shift_Del_p.P76fs	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGTTACCCCTTTTTACCCAA	0.542																																						ENST00000598895.1																			0				breast(1)	1						c.(226-228)ccfs		zinc finger protein 548							155.0	153.0	153.0					19																	57908592		1327	2309	3636	SO:0001627	intron_variant	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57908592delT	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.142+50T>-	19.37:g.57908592delT						AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000597400.1_Intron|ZNF548_ENST00000336128.7_Intron|AC003002.6_ENST00000600421.1_Intron|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000366197.5_Intron	p.P76fs			Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	444	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	0			KRAB.		Q96M05	Frame_Shift_Del	DEL	ENST00000366197.5	37	c.228delT	CCDS46209.1																																																																																				0.542	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		10	1677						10	1677	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10620245	10620245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:10620245delG	ENST00000254958.5	-	26	4073	c.3558delC	c.(3556-3558)cccfs	p.P1186fs	JAG1_ENST00000423891.2_Frame_Shift_Del_p.P1027fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1186					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCGTGCCGTTGGGGGGCTTCT	0.517									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(3556-3558)ccfs		jagged 1							213.0	199.0	203.0					20																	10620245		2203	4300	6503	SO:0001589	frameshift_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620245delG	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3558delC	20.37:g.10620245delG	ENSP00000254958:p.Pro1186fs					JAG1_ENST00000423891.2_Frame_Shift_Del_p.P1027fs	p.P1186fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			26	4073	-			1186					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Frame_Shift_Del	DEL	ENST00000254958.5	37	c.3558delC	CCDS13112.1																																																																																				0.517	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		7	1534						7	1534	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	AGG	-	rs111939959		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:29628310_29628312delAGG	ENST00000278882.3	+	6	692_694	c.312_314delAGG	c.(310-315)gcagga>gca	p.G105del	FRG1B_ENST00000358464.4_In_Frame_Del_p.G105del|FRG1B_ENST00000439954.2_In_Frame_Del_p.G110del			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	105										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTAAAACAGCAGGAGAAGAAGAA	0.355																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(310-315)gca>gc																																						SO:0001651	inframe_deletion	0							g.chr20:29628310_29628312delAGG			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.312_314delAGG	20.37:g.29628310_29628312delAGG	ENSP00000278882:p.Gly105del					FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del	p.AG104del							6	692_694	+								C4AME5	In_Frame_Del	DEL	ENST00000278882.3	37	c.312_314delAGG																																																																																					0.355	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	610						7	610	---	---	---	---
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:30898763_30898765delGAG	ENST00000375712.3	+	2	1350_1352	c.1183_1185delGAG	c.(1183-1185)gagdel	p.E399del	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	399	Poly-Glu.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1183-1185)del		kinesin family member 3B				60,4204		6,48,2078						2.7	1.0			52	101,8153		6,89,4032	no	coding	KIF3B	NM_004798.3		12,137,6110	A1A1,A1R,RR		1.2236,1.4071,1.2861				161,12357				SO:0001651	inframe_deletion	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898763_30898765delGAG	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1183_1185delGAG	20.37:g.30898772_30898774delGAG	ENSP00000364864:p.Glu399del					KIF3B_ENST00000418717.2_Intron	p.E399del	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1350_1352	+			399			Poly-Glu.		B2RMP4|B4DSR5|E1P5M5	In_Frame_Del	DEL	ENST00000375712.3	37	c.1183_1185delGAG	CCDS13200.1																																																																																				0.571	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		11	323						11	323	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11097726	11097726	+	RNA	DEL	G	G	-	rs371150550		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr21:11097726delG	ENST00000470054.1	-	0	223							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)		GCCAGTTTCAGCGAAGGCACT	0.587																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11097726delG	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.11097726delG												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	223	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.587	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	194						8	194	---	---	---	---
SH3BGR	6450	broad.mit.edu	37	21	40823995	40823995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr21:40823995delG	ENST00000333634.4	+	1	240	c.162delG	c.(160-162)ttgfs	p.L54fs	SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380634.1_Intron	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	54					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		GGGGTGTGTTGGGGGGAGTCC	0.552																																						ENST00000333634.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(160-162)ttfs		SH3 domain binding glutamic acid-rich protein							205.0	196.0	199.0					21																	40823995		2203	4300	6503	SO:0001589	frameshift_variant	6450				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity	g.chr21:40823995delG		CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.162delG	21.37:g.40823995delG	ENSP00000332513:p.Leu54fs					SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000458295.1_Intron	p.L54fs	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN		STAD - Stomach adenocarcinoma(101;0.00151)	1	240	+		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)	54					A6ND59|D3DSI2|Q9BRB8	Frame_Shift_Del	DEL	ENST00000333634.4	37	c.162delG	CCDS13666.1																																																																																				0.552	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341		9	1548						9	1548	---	---	---	---
TMPRSS3	64699	broad.mit.edu	37	21	43795963	43795963	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr21:43795963delC	ENST00000291532.3	-	12	2164	c.1209delG	c.(1207-1209)gggfs	p.G403fs	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Frame_Shift_Del_p.G487fs|TMPRSS3_ENST00000398405.1_Frame_Shift_Del_p.G400fs|TMPRSS3_ENST00000433957.2_Frame_Shift_Del_p.G402fs	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	403	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ACACCAGGGGCCCCCCGCTGT	0.607																																						ENST00000291532.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(1207-1209)ggfs		transmembrane protease, serine 3							104.0	115.0	111.0					21																	43795963		2203	4300	6503	SO:0001589	frameshift_variant	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43795963delC	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.1209delG	21.37:g.43795963delC	ENSP00000291532:p.Gly403fs					TMPRSS3_ENST00000380399.1_Frame_Shift_Del_p.G487fs|TMPRSS3_ENST00000433957.2_Frame_Shift_Del_p.G402fs|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Frame_Shift_Del_p.G400fs	p.G403fs	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN			12	2164	-			403			Peptidase S1.		D3DSJ6|Q5USC7|Q6ZMC3	Frame_Shift_Del	DEL	ENST00000291532.3	37	c.1209delG	CCDS13686.1																																																																																				0.607	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			7	1525						7	1525	---	---	---	---
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-	rs375347383		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616																																						ENST00000330938.3																			0				ovary(1)|prostate(1)	2						c.(361-363)del		pituitary tumor-transforming 1 interacting protein																																				SO:0001651	inframe_deletion	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46276194_46276196delGCA	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.361_363delTGC	21.37:g.46276203_46276205delGCA	ENSP00000328325:p.Cys121del					PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del	p.C121del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN		Colorectal(79;0.0659)	4	581_583	-			121			Poly-Cys.		B2RDP7|D3DSL9|Q9NS09	In_Frame_Del	DEL	ENST00000330938.3	37	c.361_363delTGC	CCDS13715.1																																																																																				0.616	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			11	510						11	510	---	---	---	---
DRICH1	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-	rs199862187|rs567906771	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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			11	412						11	412	---	---	---	---
NF2	4771	broad.mit.edu	37	22	30050682	30050682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:30050682delT	ENST00000338641.4	+	5	925	c.484delT	c.(484-486)tttfs	p.F162fs	NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs	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_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs	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	1054						7	1054	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30408494	30408494	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:30408494delC	ENST00000401950.2	+	13	1601	c.1259delC	c.(1258-1260)accfs	p.T420fs	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Frame_Shift_Del_p.T284fs|MTMR3_ENST00000333027.3_Frame_Shift_Del_p.T420fs|MTMR3_ENST00000351488.3_Frame_Shift_Del_p.T420fs|MTMR3_ENST00000406629.1_Frame_Shift_Del_p.T420fs	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	420	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)			TGGGACCGCACCCCCCAGATT	0.547																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(1258-1260)acfs		myotubularin related protein 3							263.0	252.0	255.0					22																	30408494		2203	4300	6503	SO:0001589	frameshift_variant	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.chr22:30408494delC	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.1259delC	22.37:g.30408494delC	ENSP00000384651:p.Thr420fs					MTMR3_ENST00000323630.5_Frame_Shift_Del_p.T284fs|MTMR3_ENST00000351488.3_Frame_Shift_Del_p.T420fs|MTMR3_ENST00000406629.1_Frame_Shift_Del_p.T420fs|MTMR3_ENST00000401950.2_Frame_Shift_Del_p.T420fs|CTA-85E5.10_ENST00000429350.1_RNA	p.T420fs	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)		13	1587	+			420			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Frame_Shift_Del	DEL	ENST00000401950.2	37	c.1259delC	CCDS13870.1																																																																																				0.547	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		12	2273						12	2273	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-	rs375955867		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gaggcc>gcc	p.E1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 11). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.65			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4048-4053)gcc>g		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36689419_36689421delCCT		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4049_4051delAGG	22.37:g.36689428_36689430delCCT	ENSP00000216181:p.Glu1350del						p.EA1350del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			30	4279_4281	-			1350	E -> EE (in Ref. 7).				A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.4049_4051delAGG	CCDS13927.1																																																																																				0.650	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		10	496						10	496	---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:41753399_41753401delCTG	ENST00000352645.4	+	23	3157_3159	c.2900_2902delCTG	c.(2899-2904)cctgct>cct	p.A971del	ZC3H7B_ENST00000351589.4_In_Frame_Del_p.A971del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	0				E -> G (in Ref. 1; BAG37501 and 3; AAI52559). {ECO:0000305}.	viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCAGAAGCCCCTGCTGCTGCTGC	0.65																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(2899-2904)cct>c		zinc finger CCCH-type containing 7B																																				SO:0001651	inframe_deletion	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41753399_41753401delCTG		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2900_2902delCTG	22.37:g.41753408_41753410delCTG	ENSP00000345793:p.Ala971del					ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del	p.PA967del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			23	3157_3159	+			983					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	In_Frame_Del	DEL	ENST00000352645.4	37	c.2900_2902delCTG	CCDS14013.1																																																																																				0.650	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		10	992						10	992	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:42610776_42610778delTGC	ENST00000359486.3	-	1	670_672	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_ENST00000335626.4_In_Frame_Del_p.178_179QQ>Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	178	Poly-Gln.				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						CTGCTGGACTTGCTGCTGCTGCT	0.571																																						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.(532-537)caa>ca		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.chr22:42610776_42610778delTGC	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.534_536delGCA	22.37:g.42610785_42610787delTGC	ENSP00000352463:p.Gln179del					TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del	p.QQ178del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	670_672	-			178			Poly-Gln.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.534_536delGCA	CCDS14033.1																																																																																				0.571	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		13	444						13	444	---	---	---	---
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-	rs375411583	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1		Q9NQF3	SERHL_HUMAN	serine hydrolase-like								hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													|||unknown(HR)	137	0.0273562	0.0348	0.0288	5008	,	,		27362	0.0268		0.0129	False		,,,				2504	0.0317					ENST00000359906.2																			0				endometrium(1)|large_intestine(1)	2								serine hydrolase-like				58,659,3511		2,0,54,4,651,1403						0.9	0.1			70	152,913,7063		5,1,141,0,912,3005	no	intergenic				7,1,195,4,1563,4408	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1029,16.9584,14.4221				210,1572,10574						94009							g.chr22:42898666delC	AL365513		22q13.2-q13.31	2009-10-06				ENSG00000172250			14408	protein-coding gene	gene with protein product	"""kraken-like"""	607979				11352564	Standard	NR_027786		Approved	HS126B42, BK126B4.1, dJ222E13.1	uc021wql.1	Q9NQF3			22.37:g.42898666delC								NR_027786.1						0	409	+								Q5JZ95|Q9UH21	RNA	DEL	ENST00000359906.2	37																																																																																						0.592	SERHL-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000320498.2	NM_170694		9	135						9	135	---	---	---	---
MSL3	10943	broad.mit.edu	37	X	11783683	11783683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:11783683delA	ENST00000312196.4	+	9	1111	c.1006delA	c.(1006-1008)aaafs	p.K336fs	MSL3_ENST00000380693.3_Frame_Shift_Del_p.K170fs|MSL3_ENST00000337339.2_Frame_Shift_Del_p.K336fs|MSL3_ENST00000398527.2_Frame_Shift_Del_p.K324fs|MSL3_ENST00000361672.2_Frame_Shift_Del_p.K187fs	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	336	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						AGCCACCCCCAAAAGGCGCAA	0.592																																						ENST00000337339.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(1006-1008)aafs		male-specific lethal 3 homolog (Drosophila)							106.0	105.0	105.0					X																	11783683		2203	4300	6503	SO:0001589	frameshift_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11783683delA	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1006delA	X.37:g.11783683delA	ENSP00000312244:p.Lys336fs					MSL3_ENST00000361672.2_Frame_Shift_Del_p.K187fs|MSL3_ENST00000398527.2_Frame_Shift_Del_p.K324fs|MSL3_ENST00000312196.4_Frame_Shift_Del_p.K336fs|MSL3_ENST00000380693.3_Frame_Shift_Del_p.K170fs	p.K336fs	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN			9	1033	+			336					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Frame_Shift_Del	DEL	ENST00000312196.4	37	c.1006delA	CCDS14147.1																																																																																				0.592	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		9	1378						9	1378	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)cccfs	p.P135fs	PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|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	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_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|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		14	1008						14	1008	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	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		18	979						18	979	---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGC			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:54209302_54209303insGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCC	c.(328-330)ccc>ccGCCc	p.110_110P>PP	FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PP|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PP|FAM120C_ENST00000497680.1_5'Flank	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														3	0.000794702	0.0008	0.0014	3775	,	,		9228	0.0		0.001	False		,,,				2504	0.0					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.327_329dupGCC	X.37:g.54209309_54209311dupGGC	ENSP00000364324:p.Pro111dup					FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insR|FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insR	p.109_110insR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		19	54						19	54	---	---	---	---
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)gggaag>ggg	p.K375del	GNL3L_ENST00000360845.2_In_Frame_Del_p.K375del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	375					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1111-1116)ggg>gg		guanine nucleotide binding protein-like 3 (nucleolar)-like																																				SO:0001651	inframe_deletion	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578339_54578341delGAA	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1113_1115delGAA	X.37:g.54578348_54578350delGAA	ENSP00000338573:p.Lys375del					GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			12	1252_1254	+			371						In_Frame_Del	DEL	ENST00000336470.4	37	c.1113_1115delGAA	CCDS14360.1																																																																																				0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		7	584						7	584	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76812945	76812947	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:76812945_76812947delTCT	ENST00000373344.5	-	30	6888_6890	c.6674_6676delAGA	c.(6673-6678)aagagg>agg	p.K2225del	ATRX_ENST00000395603.3_In_Frame_Del_p.K2187del|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2225	Interaction with MECP2.|Poly-Lys.				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						GGAGTATCCCTCTTCTTCTTCTT	0.365			"""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.(6673-6678)agg>a		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			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:76812945_76812947delTCT	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.6674_6676delAGA	X.37:g.76812954_76812956delTCT	ENSP00000362441:p.Lys2225del					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.KR2187del	p.KR2225del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6888_6890	-			2225			Poly-Lys.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.6674_6676delAGA	CCDS14434.1																																																																																				0.365	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		8	888						8	888	---	---	---	---
ARMCX3	51566	broad.mit.edu	37	X	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tctgat>tct	p.D66del	ARMCX3_ENST00000537169.1_In_Frame_Del_p.D66del|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000471229.2_In_Frame_Del_p.D66del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	66					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(181-186)tct>tc		armadillo repeat containing, X-linked 3																																				SO:0001651	inframe_deletion	51566					integral to membrane	binding	g.chrX:100880152_100880154delTGA	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.183_185delTGA	X.37:g.100880161_100880163delTGA	ENSP00000340672:p.Asp66del					ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del|ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del	p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1049_1051	+			61					Q53HC6|Q7LCF5|Q9NPE4	In_Frame_Del	DEL	ENST00000341189.4	37	c.183_185delTGA	CCDS14489.1																																																																																				0.517	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		8	1251						8	1251	---	---	---	---
PSMD10	5716	broad.mit.edu	37	X	107331258	107331258	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:107331258delT	ENST00000217958.3	-	3	382	c.285delA	c.(283-285)aaafs	p.K95fs	PSMD10_ENST00000372295.1_Intron|PSMD10_ENST00000372296.1_Intron|PSMD10_ENST00000361815.5_Frame_Shift_Del_p.K95fs|PSMD10_ENST00000340200.5_Frame_Shift_Del_p.K62fs	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	95	Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell growth (GO:0030307)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTTGAGCACCTTTTCCCAGAA	0.453																																						ENST00000217958.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(283-285)aafs		proteasome (prosome, macropain) 26S subunit, non-ATPase, 10							159.0	148.0	151.0					X																	107331258		2203	4300	6503	SO:0001589	frameshift_variant	5716				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding	g.chrX:107331258delT	AB009619	CCDS14536.1, CCDS14537.1	Xq22.3	2013-01-10			ENSG00000101843	ENSG00000101843		"""Proteasome (prosome, macropain) subunits"", ""Ankyrin repeat domain containing"""	9555	protein-coding gene	gene with protein product	"""gankyrin"""	300880				9714768	Standard	NM_002814		Approved	p28	uc004enp.2	O75832	OTTHUMG00000022177	ENST00000217958.3:c.285delA	X.37:g.107331258delT	ENSP00000217958:p.Lys95fs					PSMD10_ENST00000372296.1_Intron|PSMD10_ENST00000340200.5_Frame_Shift_Del_p.K62fs|PSMD10_ENST00000372295.1_Intron|PSMD10_ENST00000361815.5_Frame_Shift_Del_p.K95fs	p.K95fs	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN			3	382	-			95			Interaction with RELA.		Q5U0B2|Q8IZK9	Frame_Shift_Del	DEL	ENST00000217958.3	37	c.285delA	CCDS14536.1																																																																																				0.453	PSMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057868.1	NM_170750		8	1334						8	1334	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aaafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3190-3192)aafs		guanylate cyclase 2F, retinal							171.0	156.0	161.0					X																	108619355		2203	4300	6503	SO:0001589	frameshift_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619355delT	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3192delA	X.37:g.108619355delT	ENSP00000218006:p.Lys1064fs						p.K1064fs	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			18	3483	-			1064					Q9UJF1	Frame_Shift_Del	DEL	ENST00000218006.2	37	c.3192delA	CCDS14545.1																																																																																				0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		12	1478						12	1478	---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131212553	131212553	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:131212553delA	ENST00000298542.4	-	12	1667	c.1492delT	c.(1492-1494)tatfs	p.Y498fs	FRMD7_ENST00000370879.1_Frame_Shift_Del_p.Y378fs|FRMD7_ENST00000464296.1_Frame_Shift_Del_p.Y483fs	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	498					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGTCCACATAAAAAAAGACC	0.502																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1492-1494)atfs		FERM domain containing 7							114.0	109.0	110.0					X																	131212553		2203	4300	6503	SO:0001589	frameshift_variant	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212553delA	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1492delT	X.37:g.131212553delA	ENSP00000298542:p.Tyr498fs					FRMD7_ENST00000464296.1_Frame_Shift_Del_p.Y483fs|FRMD7_ENST00000370879.1_Frame_Shift_Del_p.Y378fs	p.Y498fs	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1667	-	Acute lymphoblastic leukemia(192;0.000127)		498					C0LLJ3|Q5JX99	Frame_Shift_Del	DEL	ENST00000298542.4	37	c.1492delT	CCDS35397.1																																																																																				0.502	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		8	1151						8	1151	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132160788	132160788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:132160788delA	ENST00000511190.1	-	6	1930	c.1461delT	c.(1459-1461)tttfs	p.F487fs	USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	487	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.G488fs*6(2)|p.F487fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTCTGCTCCAAAAAAAAGAT	0.383																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			3	Insertion - Frameshift(3)	p.G488fs*6(2)|p.F487fs*7(1)	central_nervous_system(3)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(1459-1461)ttfs		ubiquitin specific peptidase 26							122.0	123.0	122.0					X																	132160788		2203	4300	6503	SO:0001589	frameshift_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160788delA	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1461delT	X.37:g.132160788delA	ENSP00000423390:p.Phe487fs					USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs	p.F487fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	1930	-	Acute lymphoblastic leukemia(192;0.000127)		487					B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	ENST00000511190.1	37	c.1461delT	CCDS14635.1																																																																																				0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		11	1393						11	1393	---	---	---	---
SPANXN3	139067	broad.mit.edu	37	X	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)aatfs	p.N24fs	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453																																						ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(70-72)atfs		SPANX family, member N3							221.0	189.0	200.0					X																	142605149		2203	4300	6503	SO:0001589	frameshift_variant	139067							g.chrX:142605149delT		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.71delA	X.37:g.142605149delT	ENSP00000359534:p.Asn24fs						p.N24fs	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN			1	154	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNK4	Frame_Shift_Del	DEL	ENST00000370503.2	37	c.71delA	CCDS35418.1																																																																																				0.453	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		12	1194						12	1194	---	---	---	---
SPANXN2	494119	broad.mit.edu	37	X	142803692	142803692	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:142803692delT	ENST00000370498.1	-	1	824	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(70-72)atfs		SPANX family, member N2				0,17,3704		0,0,0,1,12,3,1579,534	214.0	197.0	202.0			-0.2	0.0	X		204	1,105,6378		0,0,1,7,61,30,2288,1740	no	codingComplex	SPANXN2	NM_001009615.1		0,0,1,8,73,33,3867,2274	A1A1,A1A2,A1R,A2A2,A2R,A2,RR,R		1.6348,0.4569,1.2053			142803692	1,122,10082	2203	4300	6503	SO:0001589	frameshift_variant	494119							g.chrX:142803692delT		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.71delA	X.37:g.142803692delT	ENSP00000359529:p.Asn24fs						p.N24fs	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			1	824	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNM2	Frame_Shift_Del	DEL	ENST00000370498.1	37	c.71delA	CCDS35419.1																																																																																				0.443	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		22	1386						22	1386	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		10	1268						10	1268	---	---	---	---
HMGB3	3149	broad.mit.edu	37	X	150156358	150156360	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:150156358_150156360delGAG	ENST00000325307.7	+	5	670_672	c.574_576delGAG	c.(574-576)gagdel	p.E198del	HMGB3_ENST00000448905.2_In_Frame_Del_p.E198del	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					ggaggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)del		high mobility group box 3																																				SO:0001651	inframe_deletion	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156358_150156360delGAG	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.574_576delGAG	X.37:g.150156367_150156369delGAG	ENSP00000359393:p.Glu198del					HMGB3_ENST00000448905.2_In_Frame_Del_p.E198del	p.E198del	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	670_672	+	Acute lymphoblastic leukemia(192;6.56e-05)		198			Asp/Glu-rich (acidic).		O95556|Q6NS40	In_Frame_Del	DEL	ENST00000325307.7	37	c.574_576delGAG	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		7	440						7	440	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		16	999						16	999	---	---	---	---
