#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		8	369	0	0	0	1	0	8	369				
RP11-423O2.5	0	broad.mit.edu	37	1	142803629	142803629	+	lincRNA	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:142803629G>A	ENST00000423385.1	-	0	1336																											actaatatctgttgagtgttg	0.308																																						ENST00000423385.1																			0																																																			0							g.chr1:142803629G>A																													1.37:g.142803629G>A														0	1336	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.308	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			7	204	0	0	0	1	0	7	204				
CAB39L	81617	broad.mit.edu	37	13	49951138	49951138	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr13:49951138T>C	ENST00000355854.4	-	3	738	c.241A>G	c.(241-243)Aca>Gca	p.T81A	CAB39L_ENST00000347776.5_Missense_Mutation_p.T81A|CAB39L_ENST00000409308.1_Missense_Mutation_p.T81A|CAB39L_ENST00000410043.1_Missense_Mutation_p.T81A	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	81					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		GCTATCAGTGTCACTAGCAGG	0.433																																						ENST00000355854.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12						c.(241-243)Aca>Gca		calcium binding protein 39-like							113.0	107.0	109.0					13																	49951138		2203	4300	6503	SO:0001583	missense	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49951138T>C	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.241A>G	13.37:g.49951138T>C	ENSP00000348113:p.Thr81Ala					CAB39L_ENST00000410043.1_Missense_Mutation_p.T81A|CAB39L_ENST00000347776.5_Missense_Mutation_p.T81A|CAB39L_ENST00000409308.1_Missense_Mutation_p.T81A	p.T81A	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	3	738	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	81					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Missense_Mutation	SNP	ENST00000355854.4	37	c.241A>G	CCDS9416.2	.	.	.	.	.	.	.	.	.	.	T	7.778	0.708844	0.15239	.	.	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000425242;ENST00000410043;ENST00000457041;ENST00000413278;ENST00000409082	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.107271	0.64402	D	0.000005	T	0.23611	0.0571	L	0.31804	0.96	0.51012	D	0.999906	B	0.02656	0.0	B	0.04013	0.001	T	0.05146	-1.0903	9	.	.	.	-16.4498	14.8412	0.70226	0.0:0.0:0.0:1.0	.	81	Q9H9S4	CB39L_HUMAN	A	81;81;78;81;44;81;81;81;81	ENSP00000348113:T81A;ENSP00000261669:T81A;ENSP00000386375:T81A;ENSP00000416719:T44A;ENSP00000386328:T81A;ENSP00000409253:T81A;ENSP00000404028:T81A;ENSP00000386979:T81A	.	T	-	1	0	CAB39L	48849139	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	1.571000	0.36450	2.098000	0.63641	0.528000	0.53228	ACA		0.433	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925		210	367	0	0	0	1	0	210	367				
MIR129-2	406918	broad.mit.edu	37	11	43602960	43602960	+	RNA	SNP	T	T	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:43602960T>C	ENST00000362207.1	+	0	17					NR_029697.1				microRNA 129-2																		TCGCGAATCTTTTTGCGGTCT	0.592																																						ENST00000362207.1																			0																				49.0	53.0	52.0					11																	43602960		1567	3580	5147			0							g.chr11:43602960T>C			11p11.2	2011-09-12		2008-12-18	ENSG00000199077	ENSG00000199077		"""ncRNAs / Micro RNAs"""	31513	non-coding RNA	RNA, micro				MIRN129-2			Standard	NR_029697		Approved	hsa-mir-129-2	uc001mxo.1				11.37:g.43602960T>C								NR_029697.1						0	17	+									RNA	SNP	ENST00000362207.1	37																																																																																						0.592	MIR129-2-201	KNOWN	basic	miRNA	miRNA		NR_029697		82	12	0	0	0	1	0	82	12				
ZMYND19	116225	broad.mit.edu	37	9	140481540	140481540	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:140481540C>A	ENST00000298585.2	-	4	464	c.238G>T	c.(238-240)Gtg>Ttg	p.V80L	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	80						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCGGGGCCACGCCCCCCCGG	0.632																																						ENST00000298585.2																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(238-240)Gtg>Ttg		zinc finger, MYND-type containing 19							52.0	61.0	58.0					9																	140481540		2203	4298	6501	SO:0001583	missense	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140481540C>A	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.238G>T	9.37:g.140481540C>A	ENSP00000298585:p.Val80Leu					ZMYND19_ENST00000471957.1_5'UTR	p.V80L	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	4	464	-	all_cancers(76;0.106)		80					Q5T366	Missense_Mutation	SNP	ENST00000298585.2	37	c.238G>T	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889343	0.33348	.	.	ENSG00000165724	ENST00000298585	.	.	.	5.06	-1.58	0.08479	.	0.367148	0.30510	N	0.009466	T	0.32224	0.0822	L	0.29908	0.895	0.26808	N	0.969063	B	0.12630	0.006	B	0.14023	0.01	T	0.29274	-1.0017	9	0.72032	D	0.01	-9.9506	11.331	0.49477	0.0:0.6049:0.0:0.3951	.	80	Q96E35	ZMY19_HUMAN	L	80	.	ENSP00000298585:V80L	V	-	1	0	ZMYND19	139601361	1.000000	0.71417	0.029000	0.17559	0.793000	0.44817	1.220000	0.32491	-0.329000	0.08527	-0.140000	0.14226	GTG		0.632	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		5	465	1	0	0.27861	1	0.27861	5	465				
RRN3P2	653390	broad.mit.edu	37	16	29088081	29088081	+	RNA	SNP	C	C	A	rs546386045	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:29088081C>A	ENST00000564580.1	+	0	251							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2																		AAGTACAAAACGGTAAGAGGA	0.358																																						ENST00000564580.1																			0																																																			0							g.chr16:29088081C>A			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29088081C>A														0	251	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	a	0.130	-1.114610	0.01799	.	.	ENSG00000103472	ENST00000415221;ENST00000427965;ENST00000219758	.	.	.	1.4	0.231	0.15377	.	0.452778	0.20677	N	0.087729	T	0.11110	0.0271	.	.	.	.	.	.	.	.	.	.	.	.	T	0.34254	-0.9836	5	0.02654	T	1	.	3.2711	0.06882	0.5958:0.2388:0.1654:0.0	.	.	.	.	K	65	.	ENSP00000219758:T65K	T	+	2	0	AC009093.1	28995582	1.000000	0.71417	0.930000	0.37139	0.051000	0.14879	1.388000	0.34442	-0.398000	0.07679	-1.447000	0.01057	ACG		0.358	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	214	1	0	0.00116845	1	0.00119456	4	214				
SNX32	254122	broad.mit.edu	37	11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	rs147615662	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308342.6																			1	Substitution - Missense(1)	p.R233C(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(697-699)Cgc>Tgc		sorting nexin 32		C	CYS/ARG	5,4397	9.9+/-24.2	0,5,2196	104.0	104.0	104.0		697	-1.4	0.1	11	dbSNP_134	104	0,8594		0,0,4297	no	missense	SNX32	NM_152760.2	180	0,5,6493	TT,TC,CC		0.0,0.1136,0.0385	possibly-damaging	233/404	65618619	5,12991	2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65618619C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.697C>T	11.37:g.65618619C>T	ENSP00000310620:p.Arg233Cys		OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085		p.R233C	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	7	1122	+			233					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.697C>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402618	0.62288	0.001136	0.0	ENSG00000172803	ENST00000308342	T	0.31247	1.5	5.35	-1.38	0.09027	Vps5 C-terminal (1);	0.864072	0.10130	N	0.712211	T	0.28995	0.0720	M	0.78801	2.425	0.33479	D	0.587158	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.33940	T	0.23	-5.455	4.2597	0.10735	0.2475:0.4607:0.0:0.2918	.	233	Q86XE0	SNX32_HUMAN	C	233	ENSP00000310620:R233C	ENSP00000310620:R233C	R	+	1	0	SNX32	65375195	0.999000	0.42202	0.070000	0.20053	0.878000	0.50629	0.835000	0.27531	-0.096000	0.12329	0.655000	0.94253	CGC		0.632	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		5	478	0	0	0	1	0	5	478				
KLRC4	8302	broad.mit.edu	37	12	10561520	10561520	+	Missense_Mutation	SNP	G	G	A	rs373322943		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:10561520G>A	ENST00000309384.1	-	2	458	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F	KLRC4-KLRK1_ENST00000539300.1_Missense_Mutation_p.S84F	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	93					cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						CAAGGAATAAGAACTATTGTT	0.383																																						ENST00000539300.1																			0											c.(250-252)tCt>tTt									129.0	132.0	131.0					12																	10561520		2203	4300	6503	SO:0001583	missense	0							g.chr12:10561520G>A	U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"""Killer cell lectin-like receptors"""	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.277C>T	12.37:g.10561520G>A	ENSP00000310216:p.Leu93Phe					KLRC4_ENST00000309384.1_Missense_Mutation_p.L93F	p.S84F							2	250	-								O60851	Missense_Mutation	SNP	ENST00000309384.1	37	c.251C>T	CCDS8624.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520486	0.27211	.	.	ENSG00000183542	ENST00000309384	T	0.08634	3.07	3.34	-5.18	0.02840	C-type lectin fold (1);	1.790760	0.02760	N	0.118528	T	0.10165	0.0249	M	0.71581	2.175	0.09310	N	1	P	0.45044	0.849	B	0.43623	0.425	T	0.32640	-0.9899	10	0.25751	T	0.34	.	1.3356	0.02144	0.132:0.1942:0.28:0.3939	.	93	O43908	NKG2F_HUMAN	F	93	ENSP00000310216:L93F	ENSP00000310216:L93F	L	-	1	0	KLRC4	10452787	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-2.438000	0.01017	-1.352000	0.02194	-0.535000	0.04281	CTT		0.383	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400108.1	NM_013431		120	325	0	0	0	1	0	120	325				
ZNF28	7576	broad.mit.edu	37	19	53304126	53304126	+	Silent	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:53304126C>T	ENST00000457749.2	-	4	1091	c.972G>A	c.(970-972)ggG>ggA	p.G324G	ZNF28_ENST00000438150.2_Silent_p.G271G|ZNF28_ENST00000360272.4_Silent_p.G271G|ZNF28_ENST00000414252.2_Silent_p.G271G	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	324					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(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGTATGGTTTCCCTCCAGTAT	0.353																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(811-813)ggG>ggA		zinc finger protein 28							114.0	116.0	115.0					19																	53304126		2203	4300	6503	SO:0001819	synonymous_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304126C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.972G>A	19.37:g.53304126C>T						ZNF28_ENST00000414252.2_Silent_p.G271G|ZNF28_ENST00000457749.2_Silent_p.G324G|ZNF28_ENST00000360272.4_Silent_p.G271G	p.G271G			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1706	-			324					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	37	c.813G>A	CCDS33093.2																																																																																				0.353	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		166	359	0	0	0	1	0	166	359				
SLC25A6	293	broad.mit.edu	37	X	1508304	1508304	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chrX:1508304G>A	ENST00000381401.5	-	2	1142	c.428C>T	c.(427-429)gCg>gTg	p.A143V	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	143					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TCCCACGTCCGCTGCCAGGCG	0.672																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(427-429)gCg>gTg		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						109.0	116.0	114.0					X																	1508304		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508304G>A	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.428C>T	X.37:g.1508304G>A	ENSP00000370808:p.Ala143Val					SLC25A6_ENST00000475167.1_5'UTR	p.A143V	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			2	1142	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	143					Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.428C>T	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	12.07	1.826432	0.32329	.	.	ENSG00000169100	ENST00000381401;ENST00000447786	T	0.78126	-1.15	1.85	1.85	0.25348	Mitochondrial carrier domain (2);	0.000000	0.53938	D	0.000042	T	0.62732	0.2452	N	0.21324	0.655	0.09310	N	1	D	0.59767	0.986	B	0.41088	0.347	T	0.60167	-0.7316	10	0.54805	T	0.06	.	12.0543	0.53524	0.0:0.0:1.0:0.0	.	143	P12236	ADT3_HUMAN	V	143	ENSP00000370808:A143V	ENSP00000370808:A143V	A	-	2	0	SLC25A6	1468304	1.000000	0.71417	0.003000	0.11579	0.191000	0.23601	7.368000	0.79567	0.982000	0.38575	0.402000	0.26972	GCG		0.672	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		6	537	0	0	0	1	0	6	537				
URB2	9816	broad.mit.edu	37	1	229773136	229773136	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:229773136G>A	ENST00000258243.2	+	4	2912	c.2776G>A	c.(2776-2778)Gtc>Atc	p.V926I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	926						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTCCATGGCCGTCACCAAACT	0.483																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(2776-2778)Gtc>Atc		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							249.0	238.0	242.0					1																	229773136		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229773136G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2776G>A	1.37:g.229773136G>A	ENSP00000258243:p.Val926Ile						p.V926I	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	2912	+			926					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.2776G>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	0.663	-0.805116	0.02819	.	.	ENSG00000135763	ENST00000258243	T	0.31769	1.48	5.35	-5.17	0.02849	.	1.460380	0.04279	N	0.343556	T	0.14657	0.0354	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.16100	-1.0414	9	.	.	.	-0.9266	4.8683	0.13620	0.4232:0.0865:0.4026:0.0877	.	926	Q14146	URB2_HUMAN	I	926	ENSP00000258243:V926I	.	V	+	1	0	URB2	227839759	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.236000	0.09003	-1.321000	0.02281	-1.128000	0.01989	GTC		0.483	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		6	763	0	0	0	1	0	6	763				
ACY3	91703	broad.mit.edu	37	11	67410228	67410228	+	Silent	SNP	G	G	A	rs149837610		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:67410228G>A	ENST00000255082.3	-	8	1097	c.927C>T	c.(925-927)ccC>ccT	p.P309P	ACY3_ENST00000529256.1_Silent_p.P188P	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	309	Shielding domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GGGTCAGCGCGGGCATGGCAG	0.587													g|||	1	0.000199681	0.0	0.0	5008	,	,		20795	0.0		0.0	False		,,,				2504	0.001				GBM(56;346 1011 27014 29495 46841)	ENST00000255082.3																			0				endometrium(1)|lung(5)|prostate(2)	8						c.(925-927)ccC>ccT		aspartoacylase (aminocyclase) 3	L-Aspartic Acid(DB00128)	G		0,4400		0,0,2200	110.0	100.0	104.0		927	-7.9	0.0	11	dbSNP_134	104	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	ACY3	NM_080658.1		0,1,6493	AA,AG,GG		0.0116,0.0,0.0077		309/320	67410228	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67410228G>A	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.927C>T	11.37:g.67410228G>A						ACY3_ENST00000529256.1_Silent_p.P188P	p.P309P	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN			8	1097	-			309						Silent	SNP	ENST00000255082.3	37	c.927C>T	CCDS8175.1																																																																																				0.587	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		6	341	0	0	0	1	0	6	341				
CNN2	1265	broad.mit.edu	37	19	1037794	1037794	+	Silent	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:1037794G>A	ENST00000263097.4	+	7	1188	c.825G>A	c.(823-825)ccG>ccA	p.P275P	ABCA7_ENST00000263094.6_5'Flank|CNN2_ENST00000565096.2_Silent_p.P264P|CNN2_ENST00000348419.3_Silent_p.P236P|AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Silent_p.P296P	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	275					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTACTGCCCGCAAGGCACAG	0.672																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(823-825)ccG>ccA		calponin 2							52.0	63.0	59.0					19																	1037794		2199	4289	6488	SO:0001819	synonymous_variant	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1037794G>A	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.825G>A	19.37:g.1037794G>A						CNN2_ENST00000348419.3_Silent_p.P236P|CNN2_ENST00000565096.2_Silent_p.P264P|CNN2_ENST00000562958.2_Silent_p.P296P|CNN2_ENST00000606983.1_3'UTR	p.P275P	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1188	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	275					A5D8U8|A6NFI4|D6W5X9|Q92578	Silent	SNP	ENST00000263097.4	37	c.825G>A	CCDS12053.1																																																																																				0.672	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		8	954	0	0	0	1	0	8	954				
KNG1	3827	broad.mit.edu	37	3	186442938	186442938	+	Silent	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr3:186442938G>A	ENST00000265023.4	+	4	665	c.453G>A	c.(451-453)acG>acA	p.T151T	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Silent_p.T151T|KNG1_ENST00000287611.2_Silent_p.T151T	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	151	Cystatin kininogen-type 2. {ECO:0000255|PROSITE-ProRule:PRU00979}.|O-glycosylated at one site only.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		CTATATCAACGCAGAGCCCAG	0.493																																						ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(451-453)acG>acA		kininogen 1	Ouabain(DB01092)						104.0	92.0	96.0					3																	186442938		2203	4300	6503	SO:0001819	synonymous_variant	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186442938G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.453G>A	3.37:g.186442938G>A						RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Silent_p.T151T|KNG1_ENST00000287611.2_Silent_p.T151T	p.T151T	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	4	665	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		151			Cystatin 2.|O-glycosylated at one site only.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Silent	SNP	ENST00000265023.4	37	c.453G>A	CCDS43183.1																																																																																				0.493	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		4	180	0	0	0	1	0	4	180				
LPIN3	64900	broad.mit.edu	37	20	39978499	39978499	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:39978499T>C	ENST00000373257.3	+	6	815	c.724T>C	c.(724-726)Tcc>Ccc	p.S242P		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	242					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AAGAGCCGAGTCCCACATGCA	0.642																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(724-726)Tcc>Ccc		lipin 3							30.0	33.0	32.0					20																	39978499		2203	4299	6502	SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39978499T>C	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.724T>C	20.37:g.39978499T>C	ENSP00000362354:p.Ser242Pro						p.S242P	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			6	815	+		Myeloproliferative disorder(115;0.000739)	242					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.724T>C	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.943395	0.34283	.	.	ENSG00000132793	ENST00000373257	T	0.80738	-1.41	4.99	4.99	0.66335	.	0.137019	0.49916	D	0.000121	D	0.83207	0.5204	L	0.43598	1.365	0.34327	D	0.687207	B;D	0.89917	0.038;1.0	B;D	0.69307	0.051;0.963	D	0.86231	0.1637	9	.	.	.	-25.552	9.2741	0.37690	0.0:0.0821:0.0:0.9179	.	243;242	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	P	242	ENSP00000362354:S242P	.	S	+	1	0	LPIN3	39411913	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.848000	0.27710	2.015000	0.59207	0.482000	0.46254	TCC		0.642	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		10	381	0	0	0	1	0	10	381				
RNF114	55905	broad.mit.edu	37	20	48561967	48561967	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:48561967C>G	ENST00000244061.2	+	3	342	c.340C>G	c.(340-342)Cag>Gag	p.Q114E		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	114					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						TTCCAAATACCAGAATTACAT	0.478																																						ENST00000244061.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						c.(340-342)Cag>Gag		ring finger protein 114							159.0	127.0	138.0					20																	48561967		2203	4300	6503	SO:0001583	missense	55905				cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding	g.chr20:48561967C>G	AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"""RING-type (C3HC4) zinc fingers"""	13094	protein-coding gene	gene with protein product		612451	"""zinc finger protein 313"""	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.340C>G	20.37:g.48561967C>G	ENSP00000244061:p.Gln114Glu						p.Q114E	NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN			3	342	+			114					B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	ENST00000244061.2	37	c.340C>G	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392406	0.62066	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	T	0.80994	-1.44	6.06	5.12	0.69794	.	0.101130	0.64402	D	0.000001	T	0.80555	0.4645	L	0.41027	1.25	0.48632	D	0.999684	D;B	0.69078	0.997;0.4	P;B	0.61658	0.892;0.228	T	0.73633	-0.3921	10	0.13108	T	0.6	4.0057	10.343	0.43891	0.0:0.7932:0.1339:0.0729	.	114;114	Q9Y508-2;Q9Y508	.;RN114_HUMAN	E	114	ENSP00000244061:Q114E	ENSP00000244061:Q114E	Q	+	1	0	RNF114	47995374	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.498000	0.60373	2.880000	0.98712	0.650000	0.86243	CAG		0.478	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079663.1	NM_018683		150	215	0	0	0	1	0	150	215				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	8	309	0	0	0	1	0	8	309				
SPATA22	84690	broad.mit.edu	37	17	3370783	3370783	+	Missense_Mutation	SNP	G	G	T	rs145051415		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:3370783G>T	ENST00000573128.1	-	3	592	c.109C>A	c.(109-111)Ctt>Att	p.L37I	SPATA22_ENST00000541913.1_Missense_Mutation_p.L37I|SPATA22_ENST00000268981.5_Missense_Mutation_p.L37I|SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000397168.3_Missense_Mutation_p.L37I|SPATA22_ENST00000575375.1_Missense_Mutation_p.L37I|SPATA22_ENST00000572969.1_Missense_Mutation_p.L37I			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	37					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TCATCTTTAAGTGGATTAGAA	0.328																																						ENST00000573128.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						c.(109-111)Ctt>Att		spermatogenesis associated 22							111.0	114.0	113.0					17																	3370783		2203	4300	6503	SO:0001583	missense	84690							g.chr17:3370783G>T	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.109C>A	17.37:g.3370783G>T	ENSP00000459580:p.Leu37Ile					SPATA22_ENST00000268981.5_Missense_Mutation_p.L37I|SPATA22_ENST00000397168.3_Missense_Mutation_p.L37I|SPATA22_ENST00000572969.1_Missense_Mutation_p.L37I|SPATA22_ENST00000575375.1_Missense_Mutation_p.L37I|SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000541913.1_Missense_Mutation_p.L37I	p.L37I			Q8NHS9	SPT22_HUMAN			3	592	-			37					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.109C>A	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	g	14.86	2.662846	0.47572	.	.	ENSG00000141255	ENST00000397168;ENST00000268981;ENST00000541913	T;T;T	0.23348	2.03;1.91;2.01	4.88	3.91	0.45181	.	0.513806	0.17414	N	0.175096	T	0.31544	0.0800	L	0.29908	0.895	0.28282	N	0.92396	P;D;P	0.59357	0.93;0.985;0.93	P;P;P	0.56823	0.71;0.807;0.71	T	0.07309	-1.0779	10	0.56958	D	0.05	-15.853	11.3745	0.49719	0.0861:0.0:0.9139:0.0	.	37;37;37	F5GWB9;B4DXB1;Q8NHS9	.;.;SPT22_HUMAN	I	37	ENSP00000380354:L37I;ENSP00000268981:L37I;ENSP00000441920:L37I	ENSP00000268981:L37I	L	-	1	0	SPATA22	3317533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.161000	0.42358	1.376000	0.46267	0.563000	0.77884	CTT		0.328	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		141	458	1	0	3.7336e-74	1	4.21758e-74	141	458				
ZNF479	90827	broad.mit.edu	37	7	57187780	57187780	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:57187780A>C	ENST00000331162.4	-	5	1612	c.1342T>G	c.(1342-1344)Tta>Gta	p.L448V		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTGAGGATAAGCTAAAGGCT	0.438																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(1342-1344)Tta>Gta		zinc finger protein 479							47.0	46.0	47.0					7																	57187780		2007	4179	6186	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187780A>C	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1342T>G	7.37:g.57187780A>C	ENSP00000333776:p.Leu448Val						p.L448V	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1612	-			448						Missense_Mutation	SNP	ENST00000331162.4	37	c.1342T>G	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	a	0.018	-1.480212	0.01027	.	.	ENSG00000185177	ENST00000331162	T	0.08282	3.11	0.955	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	N	0.21142	0.635	0.09310	N	1	B	0.29716	0.255	B	0.22152	0.038	T	0.44345	-0.9334	9	0.15952	T	0.53	.	2.0227	0.03513	0.2806:0.0:0.4296:0.2898	.	448	Q96JC4	ZN479_HUMAN	V	448	ENSP00000333776:L448V	ENSP00000333776:L448V	L	-	1	2	ZNF479	57191722	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.455000	0.00011	-0.495000	0.06659	-0.505000	0.04504	TTA		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		8	827	0	0	0	1	0	8	827				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	180	0	0	0	1	0	6	180				
SPZ1	84654	broad.mit.edu	37	5	79616605	79616605	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:79616605C>G	ENST00000296739.4	+	1	816	c.571C>G	c.(571-573)Cag>Gag	p.Q191E		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	191	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAAGAAACAGCAGATGATAAT	0.353																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(571-573)Cag>Gag		spermatogenic leucine zipper 1							80.0	73.0	75.0					5																	79616605		1823	4086	5909	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616605C>G		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.571C>G	5.37:g.79616605C>G	ENSP00000369611:p.Gln191Glu						p.Q191E	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	816	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	191					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.571C>G	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	0.445	-0.896756	0.02472	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.37235	1.21;1.75	3.72	1.88	0.25563	.	0.620126	0.14328	N	0.326540	T	0.09862	0.0242	N	0.01493	-0.835	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35276	-0.9795	10	0.02654	T	1	-1.396	4.8081	0.13329	0.2072:0.3907:0.4021:0.0	.	191	Q9BXG8	SPZ1_HUMAN	E	191	ENSP00000426530:Q191E;ENSP00000369611:Q191E	ENSP00000369611:Q191E	Q	+	1	0	SPZ1	79652361	0.003000	0.15002	0.011000	0.14972	0.387000	0.30353	0.012000	0.13287	0.186000	0.20125	-0.319000	0.08680	CAG		0.353	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		5	431	0	0	0	1	0	5	431				
FRG1B	284802	broad.mit.edu	37	20	29628273	29628273	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:29628273A>G	ENST00000278882.3	+	6	655	c.275A>G	c.(274-276)aAt>aGt	p.N92S	FRG1B_ENST00000358464.4_Missense_Mutation_p.N92S|FRG1B_ENST00000439954.2_Missense_Mutation_p.N97S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	92										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTAGATGCAATGAAGCAGGG	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(274-276)aAt>aGt																																						SO:0001583	missense	0							g.chr20:29628273A>G			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.275A>G	20.37:g.29628273A>G	ENSP00000278882:p.Asn92Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.N92S|FRG1B_ENST00000439954.2_Missense_Mutation_p.N97S	p.N92S							6	655	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.275A>G		.	.	.	.	.	.	.	.	.	.	a	5.285	0.237973	0.10023	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.41400	1.0	2.08	2.08	0.27032	Actin cross-linking (1);	0.091289	0.85682	D	0.000000	T	0.23649	0.0572	.	.	.	0.35235	D	0.777251	B;B	0.12630	0.001;0.006	B;B	0.14578	0.005;0.011	T	0.17319	-1.0373	9	0.16420	T	0.52	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	97;92	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	92;97;92	ENSP00000408863:N97S	ENSP00000278882:N92S	N	+	2	0	FRG1B	28241934	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.067000	0.71193	1.208000	0.43306	0.347000	0.21830	AAT		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	715	0	0	0	1	0	6	715				
ZNF799	90576	broad.mit.edu	37	19	12501560	12501560	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:12501560T>C	ENST00000430385.3	-	4	1852	c.1652A>G	c.(1651-1653)gAa>gGa	p.E551G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.E519G	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GTGAATTCTTTCATGTCGTAG	0.393																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1555-1557)gAa>gGa		zinc finger protein 799							93.0	96.0	95.0					19																	12501560		2202	4300	6502	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501560T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1652A>G	19.37:g.12501560T>C	ENSP00000411084:p.Glu551Gly					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E551G	p.E519G			Q96GE5	ZN799_HUMAN			4	2305	-			551						Missense_Mutation	SNP	ENST00000430385.3	37	c.1556A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.811876	0.32053	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.18657	2.2;2.2	1.53	-0.919	0.10478	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20414	0.0491	M	0.62209	1.925	0.09310	N	1	B	0.17852	0.024	B	0.29353	0.101	T	0.40720	-0.9548	9	0.62326	D	0.03	.	3.0258	0.06090	0.2117:0.1463:0.0:0.642	.	551	Q96GE5	ZN799_HUMAN	G	519;551	ENSP00000415278:E519G;ENSP00000411084:E551G	ENSP00000415278:E519G	E	-	2	0	ZNF799	12362560	0.000000	0.05858	0.005000	0.12908	0.094000	0.18550	-1.204000	0.03017	-0.358000	0.08162	0.352000	0.21897	GAA		0.393	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	592	0	0	0	1	0	5	592				
HSPA1A	3303	broad.mit.edu	37	6	31785295	31785295	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:31785295G>A	ENST00000375651.5	+	1	2005	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	HSPA1A_ENST00000458062.2_Missense_Mutation_p.E497K|HSPA1A_ENST00000608703.1_Missense_Mutation_p.E423K|HSPA1L_ENST00000417199.3_5'Flank|HSPA1L_ENST00000375654.4_5'Flank	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	588					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			endometrium(1)|ovary(1)|stomach(1)	3						CACCTTGGCCGAGAAGGACGA	0.607																																						ENST00000375651.5																			0				endometrium(1)|ovary(1)|stomach(1)	3						c.(1762-1764)Gag>Aag		heat shock 70kDa protein 1A							51.0	39.0	43.0					6																	31785295		1689	3445	5134	SO:0001583	missense	3303				anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	g.chr6:31785295G>A	BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"""Heat shock proteins / HSP70"""	5232	protein-coding gene	gene with protein product		140550	"""heat shock 70kD protein 1A"""	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.1762G>A	6.37:g.31785295G>A	ENSP00000364802:p.Glu588Lys					HSPA1A_ENST00000458062.2_Missense_Mutation_p.E497K	p.E588K	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN			1	2005	+			588					B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	ENST00000375651.5	37	c.1762G>A	CCDS34414.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120373	0.77323	.	.	ENSG00000204389	ENST00000375651;ENST00000375652;ENST00000541556;ENST00000458062	T;T	0.01034	5.42;5.42	3.66	3.66	0.41972	.	0.000000	0.38837	N	0.001559	T	0.01061	0.0035	M	0.68952	2.095	0.48185	D	0.999606	B;P;P	0.47910	0.431;0.902;0.882	B;P;B	0.45610	0.056;0.487;0.419	T	0.64219	-0.6459	10	0.87932	D	0	-14.937	13.2562	0.60081	0.0:0.0:1.0:0.0	.	351;588;423	B4DNX1;P08107;Q5SP16	.;HSP71_HUMAN;.	K	588;423;570;497	ENSP00000364802:E588K;ENSP00000402651:E497K	ENSP00000364802:E588K	E	+	1	0	HSPA1A	31893274	1.000000	0.71417	0.631000	0.29282	0.959000	0.62525	9.497000	0.97970	2.066000	0.61787	0.305000	0.20034	GAG		0.607	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2			115	63	0	0	0	1	0	115	63				
OTOP3	347741	broad.mit.edu	37	17	72937715	72937715	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:72937715C>A	ENST00000328801.4	+	2	301	c.301C>A	c.(301-303)Ctg>Atg	p.L101M		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	101						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TGTGGTGTTCCTGGGTGGCGC	0.622																																						ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(301-303)Ctg>Atg		otopetrin 3							55.0	51.0	52.0					17																	72937715		2203	4299	6502	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72937715C>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.301C>A	17.37:g.72937715C>A	ENSP00000328090:p.Leu101Met						p.L101M	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			2	301	+	all_lung(278;0.151)|Lung NSC(278;0.185)		101						Missense_Mutation	SNP	ENST00000328801.4	37	c.301C>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278928	0.59758	.	.	ENSG00000182938	ENST00000328801	T	0.15952	2.38	4.86	4.86	0.63082	.	0.000000	0.52532	D	0.000078	T	0.30978	0.0782	L	0.60455	1.87	0.45216	D	0.998221	D	0.58970	0.984	P	0.60286	0.872	T	0.02444	-1.1158	10	0.72032	D	0.01	-9.5627	8.9408	0.35729	0.0:0.8341:0.0:0.1659	.	101	Q7RTS5	OTOP3_HUMAN	M	101	ENSP00000328090:L101M	ENSP00000328090:L101M	L	+	1	2	OTOP3	70449310	0.995000	0.38212	1.000000	0.80357	0.714000	0.41099	1.522000	0.35921	2.230000	0.72887	0.462000	0.41574	CTG		0.622	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		166	105	1	0	1.07822e-63	1	1.20313e-63	166	105				
RRAD	6236	broad.mit.edu	37	16	66956180	66956180	+	Silent	SNP	C	C	A	rs139165037		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:66956180C>A	ENST00000299759.6	-	5	976	c.726G>T	c.(724-726)gcG>gcT	p.A242A	RRAD_ENST00000420652.1_Silent_p.A242A			P55042	RAD_HUMAN	Ras-related associated with diabetes	242					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CTTCAAACAGCGCCTGGACAT	0.622																																						ENST00000299759.6																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(724-726)gcG>gcT		Ras-related associated with diabetes							77.0	64.0	68.0					16																	66956180		2200	4300	6500	SO:0001819	synonymous_variant	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66956180C>A	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.726G>T	16.37:g.66956180C>A						RRAD_ENST00000420652.1_Silent_p.A242A	p.A242A			P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	5	976	-		Ovarian(137;0.192)	242					Q96F39	Silent	SNP	ENST00000299759.6	37	c.726G>T	CCDS10824.1																																																																																				0.622	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		163	31	1	0	7.08382e-60	1	7.8566e-60	163	31				
PFAS	5198	broad.mit.edu	37	17	8157542	8157542	+	Silent	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:8157542C>T	ENST00000314666.6	+	3	334	c.201C>T	c.(199-201)ccC>ccT	p.P67P	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	67					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TTGGTTGCCCCTTACTGCTGG	0.602																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(199-201)ccC>ccT		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						156.0	122.0	134.0					17																	8157542		2203	4300	6503	SO:0001819	synonymous_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8157542C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.201C>T	17.37:g.8157542C>T						PFAS_ENST00000545834.1_5'UTR	p.P67P	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			3	334	+			67					A6H8V8	Silent	SNP	ENST00000314666.6	37	c.201C>T	CCDS11136.1																																																																																				0.602	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			9	460	0	0	0	1	0	9	460				
CCDC71L	168455	broad.mit.edu	37	7	106300652	106300652	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:106300652G>A	ENST00000523505.1	-	1	790	c.691C>T	c.(691-693)Ccg>Tcg	p.P231S		NM_175884.4	NP_787080.2	Q8N9Z2	CC71L_HUMAN	coiled-coil domain containing 71-like	231										endometrium(1)	1						CGGGGCACCGGGAAGCGGCGG	0.726											OREG0018261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000523505.1																			0				endometrium(1)	1						c.(691-693)Ccg>Tcg		coiled-coil domain containing 71-like							7.0	9.0	9.0					7																	106300652		1671	3662	5333	SO:0001583	missense	168455							g.chr7:106300652G>A		CCDS55151.1	7q22.3	2011-12-12	2011-12-12	2011-12-12	ENSG00000253276	ENSG00000253276			26685	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 74"""	C7orf74		12477932	Standard	NM_175884		Approved	FLJ36031	uc003vdt.3	Q8N9Z2	OTTHUMG00000164150	ENST00000523505.1:c.691C>T	7.37:g.106300652G>A	ENSP00000430897:p.Pro231Ser		OREG0018261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1396		p.P231S	NM_175884.4	NP_787080.2	Q8N9Z2	YG034_HUMAN			1	790	-			231					Q7Z756	Missense_Mutation	SNP	ENST00000523505.1	37	c.691C>T	CCDS55151.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640381	0.47153	.	.	ENSG00000253276	ENST00000523505	.	.	.	3.85	3.85	0.44370	.	1.088530	0.07092	N	0.838838	T	0.46425	0.1392	N	0.19112	0.55	0.35403	D	0.791752	D	0.67145	0.996	P	0.53689	0.732	T	0.42932	-0.9422	9	0.31617	T	0.26	.	11.7017	0.51575	0.0:0.0:0.8224:0.1776	.	231	Q8N9Z2	CG074_HUMAN	S	231	.	ENSP00000430897:P231S	P	-	1	0	C7orf74	106087888	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	3.392000	0.52537	1.988000	0.58038	0.505000	0.49811	CCG		0.726	CCDC71L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377493.1	NM_175884		31	42	0	0	0	1	0	31	42				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		16	800	0	0	0	1	0	16	800				
NME8	51314	broad.mit.edu	37	7	37927910	37927910	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:37927910C>T	ENST00000199447.4	+	15	1651	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S	NME8_ENST00000440017.1_Missense_Mutation_p.P427S|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	427	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GGACAGTTTGCCGGTCAACCA	0.368																																						ENST00000199447.4																			0											c.(1279-1281)Ccg>Tcg		NME/NM23 family member 8							98.0	96.0	96.0					7																	37927910		2203	4300	6503	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37927910C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1279C>T	7.37:g.37927910C>T	ENSP00000199447:p.Pro427Ser					NME8_ENST00000440017.1_Missense_Mutation_p.P427S|EPDR1_ENST00000476620.1_Intron	p.P427S	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			15	1651	+			427			NDK 2.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1279C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001785	0.35320	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.52057	0.68;0.68	4.42	4.42	0.53409	.	0.957326	0.08619	N	0.918683	T	0.55721	0.1938	L	0.43554	1.36	0.32934	D	0.517549	P	0.38677	0.642	P	0.51550	0.673	T	0.54091	-0.8345	10	0.34782	T	0.22	-13.8286	12.7452	0.57278	0.0:0.8337:0.1663:0.0	.	427	Q8N427	TXND3_HUMAN	S	427	ENSP00000199447:P427S;ENSP00000397063:P427S	ENSP00000199447:P427S	P	+	1	0	TXNDC3	37894435	0.562000	0.26586	0.835000	0.33067	0.035000	0.12851	2.365000	0.44196	2.758000	0.94735	0.563000	0.77884	CCG		0.368	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		7	465	0	0	0	1	0	7	465				
NSUN5	55695	broad.mit.edu	37	7	72722532	72722532	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:72722532C>T	ENST00000252594.6	-	2	127	c.112G>A	c.(112-114)Gcg>Acg	p.A38T	NSUN5_ENST00000310326.8_Missense_Mutation_p.A38T|NSUN5_ENST00000438747.2_Missense_Mutation_p.A38T|NSUN5_ENST00000428206.1_Missense_Mutation_p.A38T			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	38					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CACACCAGCGCGTACAGCTGC	0.716																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(112-114)Gcg>Acg		NOP2/Sun domain family, member 5							42.0	44.0	43.0					7																	72722532		2203	4295	6498	SO:0001583	missense	55695						methyltransferase activity	g.chr7:72722532C>T	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.112G>A	7.37:g.72722532C>T	ENSP00000252594:p.Ala38Thr					NSUN5_ENST00000252594.6_Missense_Mutation_p.A38T|NSUN5_ENST00000438747.2_Missense_Mutation_p.A38T|NSUN5_ENST00000310326.8_Missense_Mutation_p.A38T	p.A38T	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			2	125	-		Lung NSC(55;0.163)	38					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	c.112G>A	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464475	0.63513	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.25749	1.79;1.78;1.91;1.9	4.08	4.08	0.47627	.	0.058059	0.64402	D	0.000002	T	0.59266	0.2181	M	0.91561	3.22	0.49389	D	0.99978	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;0.999	T	0.71461	-0.4586	10	0.87932	D	0	.	15.5136	0.75806	0.0:1.0:0.0:0.0	.	38;38;38;38	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	T	38	ENSP00000393081:A38T;ENSP00000252594:A38T;ENSP00000388464:A38T;ENSP00000309126:A38T	ENSP00000252594:A38T	A	-	1	0	NSUN5	72360468	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.141000	0.71744	2.107000	0.64212	0.485000	0.47835	GCG		0.716	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		19	486	0	0	0	1	0	19	486				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	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		8	170	0	0	0	1	0	8	170				
METTL4	64863	broad.mit.edu	37	18	2566951	2566951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr18:2566951G>A	ENST00000574538.1	-	2	1040	c.265C>T	c.(265-267)Cga>Tga	p.R89*	METTL4_ENST00000319888.6_Nonsense_Mutation_p.R89*	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	89					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGTTCAGGTCGAAAAACAAAT	0.378																																						ENST00000319888.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(265-267)Cga>Tga		methyltransferase like 4							91.0	85.0	87.0					18																	2566951		2203	4300	6503	SO:0001587	stop_gained	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2566951G>A		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.265C>T	18.37:g.2566951G>A	ENSP00000458290:p.Arg89*					METTL4_ENST00000574538.1_Nonsense_Mutation_p.R89*	p.R89*			Q8N3J2	METL4_HUMAN			2	1063	-			89					B2RNA1|Q2TAA7|Q9H5U9	Nonsense_Mutation	SNP	ENST00000574538.1	37	c.265C>T	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	G	43	10.468407	0.99411	.	.	ENSG00000101574	ENST00000319888	.	.	.	5.56	3.74	0.42951	.	0.091405	0.44483	D	0.000457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3431	12.4112	0.55468	0.0:0.0:0.6938:0.3062	.	.	.	.	X	89	.	ENSP00000320349:R89X	R	-	1	2	METTL4	2556951	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	2.486000	0.45259	0.778000	0.33520	0.655000	0.94253	CGA		0.378	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		89	358	0	0	0	1	0	89	358				
CHERP	10523	broad.mit.edu	37	19	16636214	16636214	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:16636214G>A	ENST00000198939.6	-	10	1649	c.1613C>T	c.(1612-1614)cCg>cTg	p.P538L	CHERP_ENST00000546361.2_Missense_Mutation_p.P527L|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CTGGTGGGGCGGGAAGGGCCC	0.726																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1579-1581)cCg>cTg		calcium homeostasis endoplasmic reticulum protein							9.0	13.0	12.0					19																	16636214		1976	4077	6053	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16636214G>A	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1613C>T	19.37:g.16636214G>A	ENSP00000198939:p.Pro538Leu					CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.P538L	p.P527L	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			10	1731	-			527			Pro-rich.			Missense_Mutation	SNP	ENST00000198939.6	37	c.1580C>T		.	.	.	.	.	.	.	.	.	.	G	23.9	4.468652	0.84533	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	D;D	0.86432	-2.12;-2.12	4.87	4.87	0.63330	.	.	.	.	.	D	0.92143	0.7509	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93114	0.6519	9	0.87932	D	0	-15.8852	16.9961	0.86368	0.0:0.0:1.0:0.0	.	527	Q8IWX8	CHERP_HUMAN	L	527;538	ENSP00000439856:P527L;ENSP00000198939:P538L	ENSP00000198939:P538L	P	-	2	0	CHERP	16497214	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.078000	0.94023	2.235000	0.73313	0.561000	0.74099	CCG		0.726	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		3	37	0	0	0	1	0	3	37				
NTRK1	4914	broad.mit.edu	37	1	156843643	156843643	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:156843643G>A	ENST00000524377.1	+	8	1110	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S	NTRK1_ENST00000368196.3_Missense_Mutation_p.G357S|NTRK1_ENST00000358660.3_Missense_Mutation_p.G357S|NTRK1_ENST00000392302.2_Missense_Mutation_p.G327S	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	357	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CGTCAACAACGGCAACTACAC	0.622			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1069-1071)Ggc>Agc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						75.0	48.0	58.0					1																	156843643		2203	4298	6501	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156843643G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1069G>A	1.37:g.156843643G>A	ENSP00000431418:p.Gly357Ser	TSP Lung(10;0.080)				NTRK1_ENST00000358660.3_Missense_Mutation_p.G357S|NTRK1_ENST00000524377.1_Missense_Mutation_p.G357S|NTRK1_ENST00000392302.2_Missense_Mutation_p.G327S	p.G357S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			8	1189	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		357			Ig-like C2-type 2.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1069G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	37	6.081850	0.97267	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.17	6.17	0.99709	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.74030	0.3663	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.76061	-0.3097	10	0.87932	D	0	.	19.4432	0.94831	0.0:0.0:1.0:0.0	.	357;357;357;327	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	S	327;357;357;357	ENSP00000376120:G327S;ENSP00000357179:G357S;ENSP00000431418:G357S;ENSP00000351486:G357S	ENSP00000351486:G357S	G	+	1	0	NTRK1	155110267	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.796000	0.99103	2.941000	0.99782	0.655000	0.94253	GGC		0.622	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		18	48	0	0	0	1	0	18	48				
FOXG1	2290	broad.mit.edu	37	14	29237840	29237840	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr14:29237840C>T	ENST00000313071.4	+	1	1554	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L	FOXG1_ENST00000382535.3_Missense_Mutation_p.P452L	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	452					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCGACCCTGCCCTGTGAGTCT	0.592																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(1354-1356)cCc>cTc		forkhead box G1							68.0	67.0	68.0					14																	29237840		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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.chr14:29237840C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1355C>T	14.37:g.29237840C>T	ENSP00000339004:p.Pro452Leu					FOXG1_ENST00000313071.4_Missense_Mutation_p.P452L	p.P452L			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1724	+			452					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.1355C>T	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525191	0.27299	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.92911	-3.13;-3.13	4.14	4.14	0.48551	.	0.155416	0.45126	U	0.000397	D	0.84447	0.5474	N	0.19112	0.55	0.53688	D	0.999975	B	0.11235	0.004	B	0.11329	0.006	T	0.79212	-0.1896	10	0.07482	T	0.82	.	16.7792	0.85559	0.0:1.0:0.0:0.0	.	452	P55316	FOXG1_HUMAN	L	452	ENSP00000371975:P452L;ENSP00000339004:P452L	ENSP00000339004:P452L	P	+	2	0	FOXG1	28307591	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.423000	0.59861	2.006000	0.58801	0.491000	0.48974	CCC		0.592	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			97	406	0	0	0	1	0	97	406				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	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.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		5	358	0	0	0	1	0	5	358				
PCDHB16	57717	broad.mit.edu	37	5	140563238	140563238	+	Silent	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:140563238C>T	ENST00000361016.2	+	1	2259	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	368	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)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTGTTTTCAGCGTTTCAG	0.493																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1102-1104)ttC>ttT									82.0	85.0	84.0					5																	140563238		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563238C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1104C>T	5.37:g.140563238C>T							p.F368F	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2259	+			368			Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1104C>T	CCDS4251.1																																																																																				0.493	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		8	442	0	0	0	1	0	8	442				
AKAP13	11214	broad.mit.edu	37	15	86266503	86266503	+	Missense_Mutation	SNP	G	G	A	rs376932632		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:86266503G>A	ENST00000394518.2	+	26	6792	c.6697G>A	c.(6697-6699)Gta>Ata	p.V2233I	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.V2237I|RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000394510.2_Missense_Mutation_p.V478I	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2233	Interaction with ESR1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAAGAAGCTTGTACGTGATGG	0.423																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(6697-6699)Gta>Ata		A kinase (PRKA) anchor protein 13							163.0	132.0	142.0					15																	86266503		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86266503G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6697G>A	15.37:g.86266503G>A	ENSP00000378026:p.Val2233Ile					AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.V2237I|AKAP13_ENST00000394510.2_Missense_Mutation_p.V478I	p.V2233I	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			26	6792	+			2233			Interaction with ESR1.|PH.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.6697G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422067	0.25639	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.63255	-0.03;-0.03;-0.03	5.83	4.92	0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.	.	.	.	T	0.34774	0.0909	N	0.03608	-0.345	0.23966	N	0.996327	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.003;0.005;0.003	T	0.14671	-1.0464	9	0.07030	T	0.85	.	10.5358	0.45002	0.1624:0.0:0.8376:0.0	.	2213;2233;2237	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	I	313;2237;2233;2236;2212;478	ENSP00000354718:V2237I;ENSP00000378026:V2233I;ENSP00000378018:V478I	ENSP00000354718:V2237I	V	+	1	0	AKAP13	84067507	0.915000	0.31059	0.674000	0.29902	0.869000	0.49853	1.646000	0.37249	1.468000	0.48064	-0.137000	0.14449	GTA		0.423	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		112	135	0	0	0	1	0	112	135				
CMYA5	202333	broad.mit.edu	37	5	79033053	79033053	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:79033053C>T	ENST00000446378.2	+	2	8496	c.8465C>T	c.(8464-8466)tCa>tTa	p.S2822L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2822					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACTCTTGCTTCAGGAGCTTCT	0.398																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(8464-8466)tCa>tTa		cardiomyopathy associated 5							38.0	38.0	38.0					5																	79033053		1855	4092	5947	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79033053C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8465C>T	5.37:g.79033053C>T	ENSP00000394770:p.Ser2822Leu						p.S2822L	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	8496	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2822					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.8465C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	9.714	1.157970	0.21454	.	.	ENSG00000164309	ENST00000446378	T	0.44083	0.93	5.87	4.99	0.66335	.	0.163612	0.29410	N	0.012236	T	0.29321	0.0730	L	0.43701	1.375	0.21445	N	0.99968	P	0.35050	0.482	B	0.30029	0.11	T	0.14924	-1.0455	10	0.15066	T	0.55	.	9.0387	0.36305	0.0:0.7739:0.1478:0.0784	.	2822	Q8N3K9	CMYA5_HUMAN	L	2822	ENSP00000394770:S2822L	ENSP00000394770:S2822L	S	+	2	0	CMYA5	79068809	0.131000	0.22433	0.312000	0.25196	0.167000	0.22549	0.528000	0.23002	1.470000	0.48102	0.655000	0.94253	TCA		0.398	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		155	81	0	0	0	1	0	155	81				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G	rs188158697		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:22473333A>G	ENST00000557788.2	-	0	20							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											CCAGGAGGAGAAAGAACCACA	0.512																																						ENST00000557788.2																			0																																																			0							g.chr15:22473333A>G	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473333A>G														0	20	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.512	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			10	310	0	0	0	1	0	10	310				
PBX4	80714	broad.mit.edu	37	19	19672926	19672926	+	Splice_Site	SNP	C	C	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:19672926C>A	ENST00000251203.9	-	8	1319	c.1033G>T	c.(1033-1035)Gcc>Tcc	p.A345S		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	345					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CTACCCTGGGCCTGAAACGAC	0.622																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.e8-1		pre-B-cell leukemia homeobox 4							33.0	31.0	32.0					19																	19672926		2201	4298	6499	SO:0001630	splice_region_variant	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19672926C>A	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.1033-1G>T	19.37:g.19672926C>A							p.A345_splice	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			8	1319	-			345					A5D8Y0|B3KUK9	Splice_Site	SNP	ENST00000251203.9	37	c.1032_splice	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608344	0.28623	.	.	ENSG00000105717	ENST00000251203	D	0.90261	-2.64	2.74	-2.46	0.06461	.	0.405411	0.20630	N	0.088616	T	0.80188	0.4577	L	0.43152	1.355	0.25790	N	0.984622	B	0.18461	0.028	B	0.09377	0.004	T	0.63431	-0.6639	10	0.27785	T	0.31	-25.6235	1.5418	0.02557	0.1567:0.4406:0.1723:0.2304	.	345	Q9BYU1	PBX4_HUMAN	S	345	ENSP00000251203:A345S	ENSP00000251203:A345S	A	-	1	0	PBX4	19533926	0.976000	0.34144	0.051000	0.19133	0.046000	0.14306	0.056000	0.14256	-0.284000	0.09102	-0.355000	0.07637	GCC		0.622	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6		Missense_Mutation	13	61	1	0	1.5842e-08	1	1.68552e-08	13	61				
MBTPS1	8720	broad.mit.edu	37	16	84092916	84092916	+	Missense_Mutation	SNP	G	G	A	rs139138066		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:84092916G>A	ENST00000343411.3	-	21	3317	c.2822C>T	c.(2821-2823)aCg>aTg	p.T941M		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	941					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCTGGGCGCCGTCTCGTTTAA	0.532																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2821-2823)aCg>aTg		membrane-bound transcription factor peptidase, site 1		G	MET/THR	2,4398	4.2+/-10.8	0,2,2198	77.0	74.0	75.0		2822	5.6	1.0	16	dbSNP_134	75	0,8600		0,0,4300	no	missense	MBTPS1	NM_003791.2	81	0,2,6498	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	941/1053	84092916	2,12998	2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84092916G>A	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2822C>T	16.37:g.84092916G>A	ENSP00000344223:p.Thr941Met						p.T941M	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			21	3317	-			941					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.2822C>T	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894132	0.91889	4.55E-4	0.0	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.24151	1.87	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	L	0.50333	1.59	0.80722	D	1	D	0.61697	0.99	P	0.45099	0.469	T	0.09552	-1.0669	10	0.72032	D	0.01	-21.5278	19.5469	0.95302	0.0:0.0:1.0:0.0	.	941	Q14703	MBTP1_HUMAN	M	941;386	ENSP00000344223:T941M	ENSP00000344223:T941M	T	-	2	0	MBTPS1	82650417	1.000000	0.71417	0.988000	0.46212	0.809000	0.45718	9.855000	0.99526	2.619000	0.88677	0.561000	0.74099	ACG		0.532	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		5	253	0	0	0	1	0	5	253				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	352	0	0	0	1	0	7	352				
CCDC130	81576	broad.mit.edu	37	19	13873869	13873869	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:13873869C>T	ENST00000586600.1	+	11	1681	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	MRI1_ENST00000319545.8_5'Flank|CCDC130_ENST00000221554.8_Missense_Mutation_p.S393L|MRI1_ENST00000040663.6_5'Flank			P13994	CC130_HUMAN	coiled-coil domain containing 130	393					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)			TACTCCGACTCGGAGAGTGAG	0.697																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1177-1179)tCg>tTg		coiled-coil domain containing 130							13.0	16.0	15.0					19																	13873869		2194	4278	6472	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13873869C>T	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.1178C>T	19.37:g.13873869C>T	ENSP00000465776:p.Ser393Leu					CCDC130_ENST00000221554.8_Missense_Mutation_p.S393L	p.S393L			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		11	1681	+			393					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.1178C>T	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573642	0.65765	.	.	ENSG00000104957	ENST00000221554	T	0.38240	1.15	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.973	T	0.63616	-0.6597	10	0.72032	D	0.01	-18.0137	16.4025	0.83647	0.0:1.0:0.0:0.0	.	393;393	B3KUZ1;P13994	.;CC130_HUMAN	L	393	ENSP00000221554:S393L	ENSP00000221554:S393L	S	+	2	0	CCDC130	13734869	1.000000	0.71417	0.285000	0.24819	0.074000	0.17049	5.206000	0.65192	2.488000	0.83962	0.491000	0.48974	TCG		0.697	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		30	124	0	0	0	1	0	30	124				
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																						ENST00000458035.1																			1	Substitution - Missense(1)	p.C945R(1)	kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2833-2835)Tgt>Cgt		zinc finger protein 845							25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856761T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg					ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2950	+			945						Missense_Mutation	SNP	ENST00000595091.1	37	c.2833T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		8	177	0	0	0	1	0	8	177				
THBS1	7057	broad.mit.edu	37	15	39882017	39882017	+	Silent	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:39882017C>T	ENST00000260356.5	+	13	2103	c.1938C>T	c.(1936-1938)ccC>ccT	p.P646P		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	646	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.P646P(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGTGCAAGCCCCGTAACCCCT	0.537																																						ENST00000260356.5																			1	Substitution - coding silent(1)	p.P646P(1)	large_intestine(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1936-1938)ccC>ccT		thrombospondin 1	Becaplermin(DB00102)						85.0	75.0	79.0					15																	39882017		2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39882017C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1938C>T	15.37:g.39882017C>T							p.P646P	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	13	2103	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	646			EGF-like 3.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.1938C>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327471	0.24080	.	.	ENSG00000137801	ENST00000397593	.	.	.	5.84	-2.52	0.06346	.	0.000000	0.35772	N	0.002991	T	0.47303	0.1438	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46219	-0.9207	6	0.87932	D	0	-20.5852	1.2066	0.01896	0.3021:0.2863:0.0869:0.3247	.	.	.	.	L	80	.	ENSP00000380721:P80L	P	+	2	0	THBS1	37669309	0.208000	0.23494	0.995000	0.50966	0.972000	0.66771	-0.415000	0.07106	-0.133000	0.11537	-0.137000	0.14449	CCC		0.537	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		41	81	0	0	0	1	0	41	81				
MSR1	4481	broad.mit.edu	37	8	15967629	15967629	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr8:15967629G>A	ENST00000262101.5	-	10	1442	c.1321C>T	c.(1321-1323)Cat>Tat	p.H441Y	MSR1_ENST00000445506.2_Missense_Mutation_p.H459Y|MSR1_ENST00000350896.3_Missense_Mutation_p.H378Y|MSR1_ENST00000355282.2_Missense_Mutation_p.H378Y			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	441	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.		H -> R (found in patients with prostate cancer; dbSNP:rs138749399). {ECO:0000269|PubMed:12244320}.		cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCTTCAGAATGTGAACAGGCT	0.373																																						ENST00000350896.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1132-1134)Cat>Tat		macrophage scavenger receptor 1							94.0	94.0	94.0					8																	15967629		2203	4300	6503	SO:0001583	missense	0				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:15967629G>A	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1321C>T	8.37:g.15967629G>A	ENSP00000262101:p.His441Tyr					MSR1_ENST00000262101.5_Missense_Mutation_p.H441Y|MSR1_ENST00000445506.2_Missense_Mutation_p.H459Y|MSR1_ENST00000355282.2_Missense_Mutation_p.H378Y	p.H378Y	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	9	1329	-			441			SRCR.		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.1132C>T	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679446	0.88542	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.08	5.08	0.68730	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.49916	D	0.000131	T	0.68952	0.3057	M	0.93241	3.395	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.77579	-0.2535	10	0.87932	D	0	.	14.3614	0.66773	0.0:0.0:1.0:0.0	.	459;378;441	B4DDJ5;P21757-3;P21757	.;.;MSRE_HUMAN	Y	378;441;459;378	ENSP00000262100:H378Y;ENSP00000262101:H441Y;ENSP00000405453:H459Y;ENSP00000347430:H378Y	ENSP00000262101:H441Y	H	-	1	0	MSR1	16012000	1.000000	0.71417	0.461000	0.27105	0.559000	0.35586	5.250000	0.65432	2.515000	0.84797	0.650000	0.86243	CAT		0.373	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			5	365	0	0	0	1	0	5	365				
ALDH1B1	219	broad.mit.edu	37	9	38396889	38396889	+	Missense_Mutation	SNP	G	G	A	rs201132163		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:38396889G>A	ENST00000377698.3	+	2	1297	c.1144G>A	c.(1144-1146)Gca>Aca	p.A382T		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	382					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		GAAGGAGGGCGCAAAACTCCT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19051	0.0		0.0	False		,,,				2504	0.001					ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(1144-1146)Gca>Aca		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						85.0	74.0	77.0					9																	38396889		2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396889G>A	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1144G>A	9.37:g.38396889G>A	ENSP00000366927:p.Ala382Thr						p.A382T	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	1297	+			382					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.1144G>A	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139056	0.77775	.	.	ENSG00000137124	ENST00000377698;ENST00000540055	D	0.81579	-1.51	5.8	4.9	0.64082	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000005	D	0.90830	0.7120	M	0.93062	3.375	0.53005	D	0.999964	D	0.76494	0.999	D	0.64506	0.926	D	0.92613	0.6101	10	0.87932	D	0	.	12.9589	0.58447	0.0791:0.0:0.9209:0.0	.	382	P30837	AL1B1_HUMAN	T	382;83	ENSP00000366927:A382T	ENSP00000366927:A382T	A	+	1	0	ALDH1B1	38386889	1.000000	0.71417	0.320000	0.25306	0.698000	0.40448	6.414000	0.73318	1.440000	0.47531	0.650000	0.86243	GCA		0.567	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			5	443	0	0	0	1	0	5	443				
SYNE1	23345	broad.mit.edu	37	6	152786392	152786392	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:152786392C>T	ENST00000367255.5	-	18	2534		c.e18+1		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000466159.2_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000367253.4_Splice_Site|SYNE1_ENST00000495090.2_Splice_Site|SYNE1_ENST00000413186.2_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCAATCTTACCTTTTTGGCA	0.403										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e18+1		spectrin repeat containing, nuclear envelope 1							138.0	124.0	129.0					6																	152786392		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152786392C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1932+1G>A	6.37:g.152786392C>T		HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000367253.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000413186.2_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site|SYNE1_ENST00000495090.2_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000466159.2_Splice_Site		NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	18	2534	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37		CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940138	0.73557	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0313	0.97540	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152828085	1.000000	0.71417	0.999000	0.59377	0.766000	0.43426	7.803000	0.85983	2.746000	0.94184	0.655000	0.94253	.		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	220	38	0	0	0	1	0	220	38				
DOCK2	1794	broad.mit.edu	37	5	169506095	169506095	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:169506095G>A	ENST00000256935.8	+	49	5191	c.5111G>A	c.(5110-5112)aGa>aAa	p.R1704K	DOCK2_ENST00000520908.1_Missense_Mutation_p.R1196K|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R765K	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1704					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGACAAAGAGAAGCAGCGTA	0.587																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(5110-5112)aGa>aAa		dedicator of cytokinesis 2							81.0	78.0	79.0					5																	169506095		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169506095G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5111G>A	5.37:g.169506095G>A	ENSP00000256935:p.Arg1704Lys					DOCK2_ENST00000520908.1_Missense_Mutation_p.R1196K|DOCK2_ENST00000540750.1_Missense_Mutation_p.R765K|DOCK2_ENST00000523351.1_3'UTR	p.R1704K	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		49	5191	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1704					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5111G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767146	0.49574	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08193	3.79;3.41;3.12	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	N	0.11201	0.11	0.32738	N	0.508016	D;P;D	0.64830	0.994;0.615;0.982	D;B;D	0.70716	0.97;0.1;0.952	T	0.02491	-1.1151	10	0.02654	T	1	.	17.0938	0.86628	0.0:0.0:1.0:0.0	.	1196;260;1704	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	K	1704;1196;765	ENSP00000256935:R1704K;ENSP00000429283:R1196K;ENSP00000438827:R765K	ENSP00000256935:R1704K	R	+	2	0	DOCK2	169438673	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	6.631000	0.74277	2.389000	0.81357	0.650000	0.86243	AGA		0.587	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		175	115	0	0	0	1	0	175	115				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T	rs192508624	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353																																						ENST00000414190.2																			0																																																			0							g.chr15:85053124G>T																													15.37:g.85053124G>T								NR_003246.2						0	328	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.353	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			13	35	1	0	3.32936e-07	1	3.50157e-07	13	35				
KCNA6	3742	broad.mit.edu	37	12	4919970	4919970	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:4919970G>C	ENST00000280684.3	+	1	1629	c.763G>C	c.(763-765)Ggg>Cgg	p.G255R	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.G255R			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	255					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CAGTACTCTTGGGGGCTCCTT	0.552										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(763-765)Ggg>Cgg		potassium voltage-gated channel, shaker-related subfamily, member 6							85.0	91.0	89.0					12																	4919970		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919970G>C	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.763G>C	12.37:g.4919970G>C	ENSP00000280684:p.Gly255Arg	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.G255R	p.G255R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1629	+			255						Missense_Mutation	SNP	ENST00000280684.3	37	c.763G>C	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	2.206	-0.381797	0.04966	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97352	-4.35;-4.35	5.12	5.12	0.69794	.	.	.	.	.	D	0.93969	0.8069	L	0.43152	1.355	0.33127	D	0.542585	B	0.02656	0.0	B	0.06405	0.002	D	0.91581	0.5279	9	0.15952	T	0.53	.	12.6147	0.56569	0.0:0.0:0.835:0.165	.	255	P17658	KCNA6_HUMAN	R	255	ENSP00000408321:G255R;ENSP00000280684:G255R	ENSP00000280684:G255R	G	+	1	0	KCNA6	4790231	.	.	0.959000	0.39883	0.124000	0.20399	.	.	2.664000	0.90586	0.655000	0.94253	GGG		0.552	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		266	173	0	0	0	1	0	266	173				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		6	54	0	0	0	1	0	6	54				
UGT1A9	54600	broad.mit.edu	37	2	234581034	234581034	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr2:234581034A>G	ENST00000354728.4	+	1	536	c.454A>G	c.(454-456)Aac>Gac	p.N152D	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.N152D			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	152					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TCCTTTTGATAACTGTGGCTT	0.398																																						ENST00000354728.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37						c.(454-456)Aac>Gac									149.0	147.0	147.0					2																	234581034		2203	4300	6503	SO:0001583	missense	0							g.chr2:234581034A>G	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.454A>G	2.37:g.234581034A>G	ENSP00000346768:p.Asn152Asp					UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	p.N152D	NM_021027.2	NP_066307.1				Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	536	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)						B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.454A>G	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	A	5.998	0.367987	0.11352	.	.	ENSG00000241119	ENST00000354728	T	0.59502	0.26	3.41	-1.46	0.08800	.	.	.	.	.	T	0.30947	0.0781	N	0.11154	0.105	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.19778	-1.0295	9	0.87932	D	0	.	1.8048	0.03078	0.3247:0.289:0.2776:0.1087	.	152;152	Q5DSZ5;O60656	.;UD19_HUMAN	D	152	ENSP00000346768:N152D	ENSP00000346768:N152D	N	+	1	0	UGT1A9	234245773	0.000000	0.05858	0.529000	0.27951	0.155000	0.21991	-0.288000	0.08377	-0.219000	0.10003	0.362000	0.22060	AAC		0.398	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		6	472	0	0	0	1	0	6	472				
NBPF15	284565	broad.mit.edu	37	1	148594434	148594434	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:148594434G>A	ENST00000369187.3	+	19	2296	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	NBPF15_ENST00000442702.2_Missense_Mutation_p.V603I	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	603	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AGAGCCTGAAGTCTTACAGGA	0.458																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1807-1809)Gtc>Atc		neuroblastoma breakpoint family, member 15																																				SO:0001583	missense	284565					cytoplasm		g.chr1:148594434G>A	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1807G>A	1.37:g.148594434G>A	ENSP00000358188:p.Val603Ile					NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I	p.V603I	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2874	+	all_hematologic(923;0.032)		603			NBPF 6.		Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	c.1807G>A	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	10.11	1.259285	0.23051	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.15372	2.43;2.43	0.502	0.502	0.16932	DUF1220 (2);	.	.	.	.	T	0.27098	0.0664	M	0.84683	2.71	0.09310	N	1	D	0.57257	0.979	D	0.75484	0.986	T	0.02539	-1.1144	8	0.56958	D	0.05	.	.	.	.	.	603	Q8N660	NBPFF_HUMAN	I	603	ENSP00000416864:V603I;ENSP00000358188:V603I	ENSP00000358188:V603I	V	+	1	0	NBPF15	146861058	0.951000	0.32395	0.009000	0.14445	0.006000	0.05464	0.894000	0.28350	0.557000	0.29117	0.377000	0.23210	GTC		0.458	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		14	1173	0	0	0	1	0	14	1173				
ARHGAP32	9743	broad.mit.edu	37	11	128844810	128844810	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:128844810C>T	ENST00000310343.9	-	20	2239	c.2240G>A	c.(2239-2241)cGc>cAc	p.R747H	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R398H|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R673H|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R398H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	747					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGAGTTACAGCGGTTCCCCAG	0.478																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2239-2241)cGc>cAc		Rho GTPase activating protein 32							74.0	68.0	70.0					11																	128844810		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844810C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2240G>A	11.37:g.128844810C>T	ENSP00000310561:p.Arg747His					ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R673H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R398H|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R398H	p.R747H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			20	2239	-			747					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.2240G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800601	0.50315	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.59	5.59	0.84812	.	0.155298	0.56097	D	0.000025	T	0.42630	0.1211	L	0.42245	1.32	0.43628	D	0.996013	B;D	0.76494	0.061;0.999	B;P	0.60236	0.012;0.871	T	0.15206	-1.0445	10	0.56958	D	0.05	.	19.5855	0.95488	0.0:1.0:0.0:0.0	.	681;747	Q86T64;A7KAX9	.;RHG32_HUMAN	H	747;398;673;681;398	ENSP00000310561:R747H;ENSP00000376425:R398H;ENSP00000432468:R673H;ENSP00000432862:R398H	ENSP00000310561:R747H	R	-	2	0	ARHGAP32	128350020	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.140000	0.64807	2.630000	0.89119	0.650000	0.86243	CGC		0.478	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		5	211	0	0	0	1	0	5	211				
SYNE1	23345	broad.mit.edu	37	6	152650992	152650992	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:152650992G>A	ENST00000367255.5	-	78	15429	c.14828C>T	c.(14827-14829)gCg>gTg	p.A4943V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A4690V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4943V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4872V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4872V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4943					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGACTCAGCGCATTCATGAT	0.488										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(14827-14829)gCg>gTg		spectrin repeat containing, nuclear envelope 1							276.0	267.0	270.0					6																	152650992		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152650992G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14828C>T	6.37:g.152650992G>A	ENSP00000356224:p.Ala4943Val	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.A4943V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4872V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4872V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4690V	p.A4943V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15429	-		Ovarian(120;0.0955)	4943					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14828C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412350	0.25465	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000011	T	0.51856	0.1699	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.69078	0.997;0.964;0.964;0.979	P;B;B;P	0.57548	0.823;0.293;0.293;0.487	T	0.28073	-1.0055	10	0.31617	T	0.26	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	4943;4943;4943;4872	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	4943;4872;4943;4872;4690	ENSP00000356224:A4943V;ENSP00000396024:A4872V;ENSP00000265368:A4943V;ENSP00000390975:A4872V;ENSP00000341887:A4690V	ENSP00000265368:A4943V	A	-	2	0	SYNE1	152692685	1.000000	0.71417	0.654000	0.29608	0.287000	0.27160	8.010000	0.88615	2.861000	0.98227	0.655000	0.94253	GCG		0.488	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	870	0	0	0	1	0	7	870				
KRTAP5-10	387273	broad.mit.edu	37	11	71276945	71276945	+	Silent	SNP	T	T	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:71276945T>C	ENST00000398531.1	+	1	337	c.312T>C	c.(310-312)tgT>tgC	p.C104C	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	104	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						AGGGGGGCTGTGGTTCTTGTG	0.677																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(310-312)tgT>tgC		keratin associated protein 5-10							38.0	58.0	51.0					11																	71276945		2154	4270	6424	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276945T>C	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.312T>C	11.37:g.71276945T>C						KRTAP5-10_ENST00000376536.4_Intron	p.C104C	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	337	+			104			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.312T>C	CCDS41684.1																																																																																				0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			5	236	0	0	0	1	0	5	236				
TUBB8P7	197331	broad.mit.edu	37	16	90162172	90162172	+	RNA	SNP	T	T	C	rs201872132		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:90162172T>C	ENST00000564451.1	+	0	1525				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		GATGGCTGCCTGTGACCCCCG	0.567																																						ENST00000564451.1																			0																																																			0							g.chr16:90162172T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162172T>C						TUBB8P7_ENST00000567960.1_RNA								0	1525	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.567	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		12	270	0	0	0	1	0	12	270				
CYP2C8	1558	broad.mit.edu	37	10	96805579	96805579	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr10:96805579G>A	ENST00000371270.3	-	6	1043	c.949C>T	c.(949-951)Cca>Tca	p.P317S	CYP2C8_ENST00000535898.1_Missense_Mutation_p.P215S|CYP2C8_ENST00000539050.1_Missense_Mutation_p.P231S	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	317					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GTGACCTCTGGGTGCTTCAGC	0.458																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(949-951)Cca>Tca		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						174.0	155.0	161.0					10																	96805579		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96805579G>A	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.949C>T	10.37:g.96805579G>A	ENSP00000360317:p.Pro317Ser					CYP2C8_ENST00000535898.1_Missense_Mutation_p.P215S|CYP2C8_ENST00000539050.1_Missense_Mutation_p.P231S	p.P317S	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	6	1043	-		Colorectal(252;0.0397)	317					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.949C>T	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813967	0.70912	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.44482	0.92;0.92;0.92	5.43	3.5	0.40072	.	0.000000	0.85682	U	0.000000	T	0.69663	0.3136	H	0.95114	3.625	0.42258	D	0.992007	D;D;D;D	0.64830	0.98;0.994;0.994;0.984	P;P;P;P	0.60117	0.692;0.869;0.858;0.869	T	0.77953	-0.2394	10	0.87932	D	0	.	12.3008	0.54874	0.0:0.0:0.6901:0.3099	.	231;215;285;317	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	S	317;284;215;231	ENSP00000360317:P317S;ENSP00000445062:P215S;ENSP00000442343:P231S	ENSP00000360317:P317S	P	-	1	0	CYP2C8	96795569	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	5.817000	0.69229	0.605000	0.29947	0.591000	0.81541	CCA		0.458	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		130	241	0	0	0	1	0	130	241				
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(28-30)cCg>cAg		RAN binding protein 9							4.0	5.0	5.0					6																	13711709		764	1870	2634	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711709G>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29C>A	6.37:g.13711709G>T	ENSP00000011619:p.Pro10Gln						p.P10Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	87	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	10			Poly-Pro.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.29C>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	g	8.018	0.759040	0.15846	.	.	ENSG00000010017	ENST00000011619;ENST00000283152	T	0.78003	-1.14	1.59	-3.18	0.05186	.	.	.	.	.	T	0.30198	0.0757	N	0.08118	0	0.21416	N	0.999694	B	0.18968	0.032	B	0.10450	0.005	T	0.18555	-1.0333	9	0.30854	T	0.27	.	5.1241	0.14875	0.0:0.0:0.4149:0.5851	.	10	Q96S59	RANB9_HUMAN	Q	10	ENSP00000011619:P10Q	ENSP00000011619:P10Q	P	-	2	0	RANBP9	13819688	0.000000	0.05858	0.967000	0.41034	0.688000	0.40055	-1.054000	0.03496	-0.053000	0.13289	0.154000	0.16183	CCG		0.761	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			3	35	1	0	0.00024832	1	0.000255295	3	35				
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106.0	111.0	109.0					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		11	1003	0	0	0	1	0	11	1003				
FRG1	2483	broad.mit.edu	37	4	190883052	190883052	+	Silent	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:190883052G>A	ENST00000226798.4	+	8	927	c.705G>A	c.(703-705)cgG>cgA	p.R235R		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	235					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)		AAAAGGCTCGGAAAGATGGAT	0.328																																						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.(703-705)cgG>cgA		FSHD region gene 1							81.0	100.0	94.0					4																	190883052		2157	4213	6370	SO:0001819	synonymous_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190883052G>A	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.705G>A	4.37:g.190883052G>A							p.R235R	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)	8	927	+		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)	235					A8K775	Silent	SNP	ENST00000226798.4	37	c.705G>A	CCDS34121.1																																																																																				0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		9	1346	0	0	0	1	0	9	1346				
HIST1H2BJ	8970	broad.mit.edu	37	6	27100369	27100369	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	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|HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.G54D			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_ENST00000339812.2_Missense_Mutation_p.G54D|HIST1H2BJ_ENST00000541790.1_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		9	733	0	0	0	1	0	9	733				
DISP1	84976	broad.mit.edu	37	1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	rs148231227		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117.0	107.0	111.0					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		5	537	0	0	0	1	0	5	537				
HTR3D	200909	broad.mit.edu	37	3	183756704	183756704	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr3:183756704C>T	ENST00000382489.3	+	8	1306	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F	HTR3D_ENST00000453435.1_Missense_Mutation_p.L215F|HTR3D_ENST00000428798.2_Missense_Mutation_p.L386F|HTR3D_ENST00000334128.2_Missense_Mutation_p.L261F	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	436					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	GCTCTTCCGCCTCTACCTGCT	0.582																																						ENST00000382489.3																			0				large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10						c.(1306-1308)Ctc>Ttc		5-hydroxytryptamine (serotonin) receptor 3D, ionotropic							174.0	159.0	164.0					3																	183756704		2203	4300	6503	SO:0001583	missense	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756704C>T	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1306C>T	3.37:g.183756704C>T	ENSP00000371929:p.Leu436Phe					HTR3D_ENST00000428798.2_Missense_Mutation_p.L386F|HTR3D_ENST00000453435.1_Missense_Mutation_p.L215F|HTR3D_ENST00000334128.2_Missense_Mutation_p.L261F	p.L436F	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		8	1306	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		436					C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	c.1306C>T	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	.	15.58	2.874778	0.51695	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	4.18	2.32	0.28847	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.108001	0.37348	N	0.002138	D	0.87446	0.6179	M	0.68317	2.08	0.09310	N	1	D;D;D;D	0.76494	0.974;0.999;0.997;0.998	P;D;D;D	0.77004	0.677;0.989;0.971;0.986	T	0.77576	-0.2536	10	0.72032	D	0.01	-21.1474	7.2179	0.25969	0.1944:0.6178:0.1878:0.0	.	436;261;215;261	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	F	261;386;436;215	ENSP00000334315:L261F;ENSP00000405409:L386F;ENSP00000371929:L436F;ENSP00000389268:L215F	ENSP00000334315:L261F	L	+	1	0	HTR3D	185239398	0.010000	0.17322	0.902000	0.35471	0.951000	0.60555	0.381000	0.20619	0.483000	0.27608	0.563000	0.77884	CTC		0.582	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		295	57	0	0	0	1	0	295	57				
RASGEF1B	153020	broad.mit.edu	37	4	82377910	82377910	+	Silent	SNP	A	A	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:82377910A>G	ENST00000264400.2	-	4	484	c.333T>C	c.(331-333)ctT>ctC	p.L111L	RASGEF1B_ENST00000509081.1_Silent_p.L111L|RASGEF1B_ENST00000514889.1_5'UTR|RASGEF1B_ENST00000335927.7_Silent_p.L70L|RASGEF1B_ENST00000436139.2_Silent_p.L111L	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	111	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TGAGGAGTTGAAGGATTTTGG	0.388																																						ENST00000436139.2																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(331-333)ctT>ctC		RasGEF domain family, member 1B							111.0	109.0	110.0					4																	82377910		2203	4300	6503	SO:0001819	synonymous_variant	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82377910A>G	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.333T>C	4.37:g.82377910A>G						RASGEF1B_ENST00000509081.1_Silent_p.L111L|RASGEF1B_ENST00000514889.1_5'UTR|RASGEF1B_ENST00000264400.2_Silent_p.L111L|RASGEF1B_ENST00000335927.7_Silent_p.L70L	p.L111L			Q0VAM2	RGF1B_HUMAN			4	459	-			111			N-terminal Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Silent	SNP	ENST00000264400.2	37	c.333T>C	CCDS34022.1																																																																																				0.388	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		5	452	0	0	0	1	0	5	452				
SUZ12	23512	broad.mit.edu	37	17	30267331	30267331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:30267331C>T	ENST00000322652.5	+	2	530	c.301C>T	c.(301-303)Cga>Tga	p.R101*	SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R101*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	101					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R101*(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TAGATTTCTTCGAACTCGGAA	0.308			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	1	Substitution - Nonsense(1)	p.R101*(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(301-303)Cga>Tga		SUZ12 polycomb repressive complex 2 subunit							94.0	87.0	90.0					17																	30267331		2203	4294	6497	SO:0001587	stop_gained	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30267331C>T	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.301C>T	17.37:g.30267331C>T	ENSP00000316578:p.Arg101*					SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R101*	p.R101*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN			2	530	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	101					Q96BD9	Nonsense_Mutation	SNP	ENST00000322652.5	37	c.301C>T	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	.	38	7.100047	0.98063	.	.	ENSG00000178691	ENST00000322652	.	.	.	4.81	4.81	0.61882	.	0.120277	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.743	12.7265	0.57174	0.0:0.9195:0.0:0.0805	.	.	.	.	X	101	.	ENSP00000316578:R101X	R	+	1	2	SUZ12	27291444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.368000	0.66133	2.383000	0.81215	0.597000	0.82753	CGA		0.308	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		6	783	0	0	0	1	0	6	783				
ZNF429	353088	broad.mit.edu	37	19	21720414	21720414	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:21720414T>G	ENST00000358491.4	+	4	1767	c.1559T>G	c.(1558-1560)cTg>cGg	p.L520R	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	520					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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GCTTTTATCCTGTCCTCAAGA	0.378																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1558-1560)cTg>cGg		zinc finger protein 429							38.0	42.0	41.0					19																	21720414		2129	4263	6392	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720414T>G	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1559T>G	19.37:g.21720414T>G	ENSP00000351280:p.Leu520Arg					ZNF429_ENST00000597078.1_Intron	p.L520R	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	1767	+			520					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1559T>G	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.055249	0.00390	.	.	ENSG00000197013	ENST00000358491	T	0.08807	3.05	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02083	0.0065	N	0.00783	-1.19	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47182	-0.9137	9	0.17369	T	0.5	.	3.76	0.08601	0.5663:0.0:0.0:0.4337	.	520	Q86V71	ZN429_HUMAN	R	520	ENSP00000351280:L520R	ENSP00000351280:L520R	L	+	2	0	ZNF429	21512254	0.000000	0.05858	0.694000	0.30210	0.695000	0.40330	-4.603000	0.00210	0.156000	0.19299	0.155000	0.16302	CTG		0.378	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		8	562	0	0	0	1	0	8	562				
SUN1	23353	broad.mit.edu	37	7	897583	897583	+	Missense_Mutation	SNP	G	G	A	rs371879209		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:897583G>A	ENST00000405266.1	+	14	1648	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	SUN1_ENST00000389574.3_Missense_Mutation_p.V422I|SUN1_ENST00000452783.2_Missense_Mutation_p.V402I|SUN1_ENST00000413514.2_Missense_Mutation_p.V303I|SUN1_ENST00000456758.2_Missense_Mutation_p.V694I|SUN1_ENST00000425407.2_Missense_Mutation_p.V422I|SUN1_ENST00000401592.1_Missense_Mutation_p.V505I			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	532					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTGGATGCCGTACAAGAAAG	0.438																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2080-2082)Gta>Ata		Sad1 and UNC84 domain containing 1		G	ILE/VAL,ILE/VAL,ILE/VAL	1,3903		0,1,1951	122.0	129.0	127.0		1513,1204,1264	-9.7	0.0	7		127	0,8272		0,0,4136	no	missense,missense,missense	SUN1	NM_001130965.2,NM_001171944.1,NM_025154.5	29,29,29	0,1,6087	AA,AG,GG		0.0,0.0256,0.0082	benign,benign,benign	505/786,402/683,422/703	897583	1,12175	1952	4136	6088	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:897583G>A	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1624G>A	7.37:g.897583G>A	ENSP00000384116:p.Val542Ile					SUN1_ENST00000425407.2_Missense_Mutation_p.V422I|SUN1_ENST00000401592.1_Missense_Mutation_p.V505I|SUN1_ENST00000389574.3_Missense_Mutation_p.V422I|SUN1_ENST00000452783.2_Missense_Mutation_p.V402I|SUN1_ENST00000405266.1_Missense_Mutation_p.V542I|SUN1_ENST00000413514.2_Missense_Mutation_p.V303I	p.V694I			O94901	SUN1_HUMAN			19	2080	+			532			SUN.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.2080G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.373|3.373	-0.128094|-0.128094	0.06753|0.06753	2.56E-4|2.56E-4	0.0|0.0	ENSG00000164828|ENSG00000164828	ENST00000433212|ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	.|T;T;T;T;T;T;T;T	.|0.22743	.|2.28;2.3;2.3;2.3;2.3;2.3;1.98;1.94	4.84|4.84	-9.68|-9.68	0.00528|0.00528	.|.	.|2.927020	.|0.01198	.|N	.|0.007517	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.27264	.|0.022;0.017;0.005;0.173;0.0;0.001	.|B;B;B;B;B;B	.|0.10450	.|0.002;0.002;0.003;0.005;0.002;0.001	T|T	0.14008|0.14008	-1.0488|-1.0488	5|10	.|0.08837	.|T	.|0.75	0.0022|0.0022	4.8643|4.8643	0.13600|0.13600	0.1517:0.3594:0.401:0.088|0.1517:0.3594:0.401:0.088	.|.	.|303;402;505;694;532;422	.|E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.|.;.;.;.;SUN1_HUMAN;.	H|I	353|694;422;402;542;505;532;422;430;303	.|ENSP00000388743:V694I;ENSP00000374225:V422I;ENSP00000413439:V402I;ENSP00000384116:V542I;ENSP00000384015:V505I;ENSP00000392309:V422I;ENSP00000409909:V430I;ENSP00000389313:V303I	.|ENSP00000297445:V532I	R|V	+|+	2|1	0|0	SUN1|SUN1	864109|864109	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.297000|-1.297000	0.02759|0.02759	-3.722000|-3.722000	0.00115|0.00115	-3.932000|-3.932000	0.00016|0.00016	CGT|GTA		0.438	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		8	876	0	0	0	1	0	8	876				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	0							g.chr20:29625934C>T			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.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		14	597	0	0	0	1	0	14	597				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	431	0	0	0	1	0	7	431				
ZNF366	167465	broad.mit.edu	37	5	71752377	71752377	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:71752377G>T	ENST00000318442.5	-	3	1868	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	460	Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTGGCCAGCAGGGTGAACTCC	0.532																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1378-1380)Ctg>Atg		zinc finger protein 366							264.0	223.0	237.0					5																	71752377		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71752377G>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1378C>A	5.37:g.71752377G>T	ENSP00000313158:p.Leu460Met						p.L460M	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	3	1868	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	460					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1378C>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039569	0.93630	.	.	ENSG00000178175	ENST00000318442	T	0.08634	3.07	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.245701	0.28996	N	0.013474	T	0.24198	0.0586	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00138	-1.2002	10	0.34782	T	0.22	-16.9908	20.1584	0.98127	0.0:0.0:1.0:0.0	.	460	Q8N895	ZN366_HUMAN	M	460	ENSP00000313158:L460M	ENSP00000313158:L460M	L	-	1	2	ZNF366	71788133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.773000	0.95371	0.585000	0.79938	CTG		0.532	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			7	726	1	0	0.00198382	1	0.00201688	7	726				
CYP4F24P	388514	broad.mit.edu	37	19	15882884	15882884	+	lincRNA	SNP	C	C	T	rs3752144	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:15882884C>T	ENST00000595525.1	+	0	1122																											TGCATTTCTGCAGACTGTCCA	0.537													.|||	784	0.15655	0.1513	0.1095	5008	,	,		20104	0.122		0.164	False		,,,				2504	0.2249					ENST00000587443.2																			0																																																			0							g.chr19:15882884C>T																													19.37:g.15882884C>T								NR_033864.1						0	793	-									RNA	SNP	ENST00000595525.1	37																																																																																						0.537	LLNLR-249E10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000472008.1			8	683	0	0	0	1	0	8	683				
METTL17	64745	broad.mit.edu	37	14	21464862	21464862	+	Silent	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr14:21464862G>A	ENST00000339374.6	+	13	1490	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	SLC39A2_ENST00000554422.1_5'Flank|SLC39A2_ENST00000298681.4_5'Flank|METTL17_ENST00000556670.2_Silent_p.R419R|METTL17_ENST00000382985.4_Silent_p.R419R|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	419					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CAGCCCGCCGGCACGGCAGGT	0.582																																						ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1255-1257)cgG>cgA		methyltransferase like 17							88.0	85.0	86.0					14																	21464862		2203	4300	6503	SO:0001819	synonymous_variant	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464862G>A	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1257G>A	14.37:g.21464862G>A						METTL17_ENST00000556670.2_Silent_p.R419R|METTL17_ENST00000382985.4_Silent_p.R419R|RP11-84C10.4_ENST00000557335.1_RNA	p.R419R	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN			13	1490	+			419					Q9BSH1|Q9BZH2|Q9BZH3	Silent	SNP	ENST00000339374.6	37	c.1257G>A	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239398	0.22711	.	.	ENSG00000165792	ENST00000556733	.	.	.	5.34	-0.867	0.10655	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42015	-0.9476	4	.	.	.	.	6.8405	0.23961	0.2595:0.2368:0.5037:0.0	.	.	.	.	T	95	.	.	A	+	1	0	METTL17	20534702	0.219000	0.23619	0.781000	0.31783	0.977000	0.68977	0.050000	0.14120	-0.066000	0.12998	0.655000	0.94253	GCA		0.582	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		5	577	0	0	0	1	0	5	577				
IGHV3-43	28426	broad.mit.edu	37	14	106926420	106926420	+	RNA	SNP	C	C	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr14:106926420C>A	ENST00000434710.1	-	0	201									immunoglobulin heavy variable 3-43																		AGAGGCTGCACAGGAGAGTCT	0.567																																						ENST00000434710.1																			0																				161.0	107.0	125.0					14																	106926420		1940	4122	6062			0							g.chr14:106926420C>A	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926420C>A														0	201	-									RNA	SNP	ENST00000434710.1	37																																																																																						0.567	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		380	512	1	0	4.6437e-136	1	5.34464e-136	380	512				
LINC00264	645528	broad.mit.edu	37	10	26880338	26880338	+	lincRNA	SNP	G	G	C	rs3118888		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1				long intergenic non-protein coding RNA 264																		GCTGAAACATGGAAGGTAAAA	0.483																																						ENST00000412114.1																			0																																																			0							g.chr10:26880338G>C			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880338G>C								NR_026793.1						0	573	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.483	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		6	118	0	0	0	1	0	6	118				
GOLGA6A	342096	broad.mit.edu	37	15	74368296	74368296	+	Missense_Mutation	SNP	G	G	A	rs542174200	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:74368296G>A	ENST00000290438.3	-	8	635	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	199						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TGTAACCACCGCTGGAGGACC	0.572													a|||	5	0.000998403	0.0	0.0	5008	,	,		25968	0.0		0.005	False		,,,				2504	0.0					ENST00000290438.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						c.(595-597)Cgg>Tgg		golgin A6 family, member A							83.0	100.0	94.0					15																	74368296		2129	4267	6396	SO:0001583	missense	342096							g.chr15:74368296G>A	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.595C>T	15.37:g.74368296G>A	ENSP00000290438:p.Arg199Trp						p.R199W	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN			8	635	-			199					A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	c.595C>T	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	g	4.080	0.012757	0.07912	.	.	ENSG00000159289	ENST00000290438	T	0.23754	1.89	1.51	-3.03	0.05429	.	.	.	.	.	T	0.14141	0.0342	N	0.21324	0.655	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26189	-1.0110	9	0.29301	T	0.29	.	7.8951	0.29702	0.3992:0.0:0.6008:0.0	.	199	Q9NYA3	GOG6A_HUMAN	W	199	ENSP00000290438:R199W	ENSP00000290438:R199W	R	-	1	2	GOLGA6A	72155349	0.033000	0.19621	0.000000	0.03702	0.015000	0.08874	0.582000	0.23834	-1.064000	0.03172	-1.713000	0.00713	CGG		0.572	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		9	1037	0	0	0	1	0	9	1037				
CHD6	84181	broad.mit.edu	37	20	40049225	40049225	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:40049225C>T	ENST00000373233.3	-	31	6227	c.6050G>A	c.(6049-6051)gGa>gAa	p.G2017E		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2017					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGCTCACTTCCTTCAAGAGG	0.403																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(6049-6051)gGa>gAa		chromodomain helicase DNA binding protein 6							127.0	117.0	120.0					20																	40049225		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049225C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6050G>A	20.37:g.40049225C>T	ENSP00000362330:p.Gly2017Glu						p.G2017E	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			31	6227	-		Myeloproliferative disorder(115;0.00425)	2017					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6050G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857299	0.32791	.	.	ENSG00000124177	ENST00000373233	D	0.84944	-1.92	6.07	4.1	0.47936	.	0.323072	0.27004	N	0.021419	T	0.79435	0.4445	L	0.59436	1.845	0.80722	D	1	B	0.27559	0.181	B	0.21151	0.033	T	0.72398	-0.4306	10	0.02654	T	1	-8.8596	15.3514	0.74389	0.0:0.736:0.264:0.0	.	2017	Q8TD26	CHD6_HUMAN	E	2017	ENSP00000362330:G2017E	ENSP00000362330:G2017E	G	-	2	0	CHD6	39482639	0.002000	0.14202	0.977000	0.42913	0.898000	0.52572	0.499000	0.22546	0.847000	0.35167	0.655000	0.94253	GGA		0.403	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			91	339	0	0	0	1	0	91	339				
PRAMEF11	440560	broad.mit.edu	37	1	12888459	12888459	+	Missense_Mutation	SNP	C	C	T	rs556232264		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:12888459C>T	ENST00000535591.1	-	2	260	c.65G>A	c.(64-66)cGc>cAc	p.R22H		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	22					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)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGGGAGGCGGCGGAAGGGCCA	0.612													.|||	1	0.000199681	0.0	0.0	5008	,	,		16932	0.001		0.0	False		,,,				2504	0.0					ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(64-66)cGc>cAc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12888459C>T	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.65G>A	1.37:g.12888459C>T	ENSP00000439551:p.Arg22His						p.R22H	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			2	260	-			22						Missense_Mutation	SNP	ENST00000535591.1	37	c.65G>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.260	-1.000566	0.02128	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.04917	3.53;3.53	1.45	-0.678	0.11353	.	1.881130	0.02333	N	0.074092	T	0.03915	0.0110	N	0.16743	0.435	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.37220	-0.9715	10	0.14252	T	0.57	.	2.7616	0.05308	0.2175:0.3149:0.4676:0.0	.	22	O60813	PRA11_HUMAN	H	22;63;22	ENSP00000439551:R22H;ENSP00000391839:R22H	ENSP00000328783:R63H	R	-	2	0	PRAMEF11	12811046	0.002000	0.14202	0.002000	0.10522	0.020000	0.10135	0.207000	0.17395	-0.200000	0.10300	-0.814000	0.03130	CGC		0.612	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		5	245	0	0	0	1	0	5	245				
ERBB2IP	55914	broad.mit.edu	37	5	65350232	65350232	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:65350232A>G	ENST00000284037.5	+	21	3475	c.3086A>G	c.(3085-3087)aAt>aGt	p.N1029S	ERBB2IP_ENST00000506030.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.N1025S|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1029					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GCCAATATGAATTTCTCTAAT	0.418																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(3085-3087)aAt>aGt		erbb2 interacting protein							103.0	99.0	100.0					5																	65350232		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65350232A>G		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3086A>G	5.37:g.65350232A>G	ENSP00000284037:p.Asn1029Ser					ERBB2IP_ENST00000508515.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.N1025S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.N1029S	p.N1029S	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3475	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1029					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.3086A>G	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191778	0.58017	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.39787	1.26;1.25;1.26;1.45;1.06;1.33;1.25;1.29;1.06	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;P;D	0.76494	0.999;0.999;0.997;0.998;0.997;0.955;0.999	D;D;D;D;D;P;D	0.85130	0.997;0.993;0.995;0.986;0.985;0.61;0.994	T	0.50039	-0.8874	10	0.21540	T	0.41	.	15.8844	0.79232	1.0:0.0:0.0:0.0	.	1029;1029;1029;1025;1029;1029;1029	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	S	1029;1029;1029;1029;1029;1029;1025;1029;1029	ENSP00000284037:N1029S;ENSP00000370330:N1029S;ENSP00000370326:N1029S;ENSP00000370323:N1029S;ENSP00000370322:N1029S;ENSP00000370325:N1029S;ENSP00000422766:N1025S;ENSP00000426632:N1029S;ENSP00000422015:N1029S	ENSP00000284037:N1029S	N	+	2	0	ERBB2IP	65385988	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.695000	0.91298	2.155000	0.67459	0.533000	0.62120	AAT		0.418	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		94	222	0	0	0	1	0	94	222				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	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.S167S(19)		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)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|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.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	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.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S167S	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	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	167	0	0	0	1	0	8	167				
ANKRD36C	400986	broad.mit.edu	37	2	96594840	96594840	+	Missense_Mutation	SNP	T	T	C	rs76434426		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr2:96594840T>C	ENST00000456556.1	-	26	1901	c.1817A>G	c.(1816-1818)gAg>gGg	p.E606G	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	606							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TATTGGTCCCTCCTTTATTTC	0.363																																						ENST00000456556.1																			0				breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1816-1818)gAg>gGg		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96594840T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1817A>G	2.37:g.96594840T>C	ENSP00000403302:p.Glu606Gly						p.E606G							26	1901	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1817A>G		.	.	.	.	.	.	.	.	.	.	t	11.91	1.778986	0.31502	.	.	ENSG00000174501	ENST00000456556	T	0.80738	-1.41	0.871	0.871	0.19107	.	.	.	.	.	T	0.76593	0.4009	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.75662	-0.3240	5	0.72032	D	0.01	.	3.9831	0.09503	0.0:0.0:0.0:1.0	.	.	.	.	G	606	ENSP00000403302:E606G	ENSP00000403302:E606G	E	-	2	0	AC073995.2	95958567	0.017000	0.18338	0.004000	0.12327	0.009000	0.06853	1.851000	0.39338	0.621000	0.30232	0.260000	0.18958	GAG		0.363	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		6	175	0	0	0	1	0	6	175				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			19	280	0	0	0	1	0	19	280				
DTNB	1838	broad.mit.edu	37	2	25656844	25656844	+	Silent	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr2:25656844C>T	ENST00000406818.3	-	13	1527	c.1278G>A	c.(1276-1278)ttG>ttA	p.L426L	DTNB_ENST00000407661.3_Silent_p.L426L|DTNB_ENST00000496972.2_Silent_p.L369L|DTNB_ENST00000405222.1_Silent_p.L396L|DTNB_ENST00000404103.3_Silent_p.L426L|DTNB_ENST00000545439.1_Silent_p.L222L|DTNB_ENST00000407186.1_Silent_p.L396L|DTNB_ENST00000407038.3_Silent_p.L396L|DTNB_ENST00000288642.8_Silent_p.L426L	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	426	Syntrophin-binding region.					cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L426F(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTAAAGCTCAAGTCAGTGG	0.408																																						ENST00000406818.3																			1	Substitution - Missense(1)	p.L426F(1)	upper_aerodigestive_tract(1)	endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1276-1278)ttG>ttA		dystrobrevin, beta							213.0	199.0	203.0					2																	25656844		1873	4109	5982	SO:0001819	synonymous_variant	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25656844C>T	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1278G>A	2.37:g.25656844C>T						DTNB_ENST00000407038.3_Silent_p.L396L|DTNB_ENST00000407186.1_Silent_p.L396L|DTNB_ENST00000545439.1_Silent_p.L222L|DTNB_ENST00000496972.2_Silent_p.L369L|DTNB_ENST00000405222.1_Silent_p.L396L|DTNB_ENST00000407661.3_Silent_p.L426L|DTNB_ENST00000404103.3_Silent_p.L426L|DTNB_ENST00000288642.8_Silent_p.L426L	p.L426L	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			13	1527	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		426			Syntrophin-binding region.		B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Silent	SNP	ENST00000406818.3	37	c.1278G>A	CCDS46237.1																																																																																				0.408	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		10	369	0	0	0	1	0	10	369				
MLLT3	4300	broad.mit.edu	37	9	20414398	20414398	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:20414398C>G	ENST00000380338.4	-	5	732	c.446G>C	c.(445-447)aGc>aCc	p.S149T	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	149	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)				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)		gctgctgctgctgGTATGAAT	0.493			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(445-447)aGc>aCc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							16.0	20.0	18.0					9																	20414398		1995	4074	6069	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414398C>G	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.446G>C	9.37:g.20414398C>G	ENSP00000369695:p.Ser149Thr					MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S149T	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	732	-			149			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.446G>C	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	3.851	-0.031821	0.07543	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	4.95	2.95	0.34219	.	0.391656	0.30630	N	0.009216	T	0.36608	0.0973	N	0.14661	0.345	0.80722	D	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.12156	0.007;0.0;0.0	T	0.13255	-1.0516	9	0.21540	T	0.41	-0.1362	11.0938	0.48132	0.0:0.6357:0.3643:0.0	.	149;146;149	B2R7B3;B7Z755;P42568	.;.;AF9_HUMAN	T	149;146;188	.	ENSP00000369695:S149T	S	-	2	0	MLLT3	20404398	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.776000	0.38594	1.422000	0.47177	-0.181000	0.13052	AGC		0.493	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	191	0	0	0	1	0	5	191				
PCDHGA7	56108	broad.mit.edu	37	5	140762765	140762765	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:140762765C>T	ENST00000518325.1	+	1	299	c.299C>T	c.(298-300)gCg>gTg	p.A100V	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGAGTGCGCGGTGTCTG	0.483																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(298-300)gCg>gTg									51.0	60.0	57.0					5																	140762765		2173	4284	6457	SO:0001583	missense	0							g.chr5:140762765C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.299C>T	5.37:g.140762765C>T	ENSP00000430024:p.Ala100Val					PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.A100V	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	299	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.299C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	8.524	0.869435	0.17322	.	.	ENSG00000253537	ENST00000518325	T	0.28069	1.63	4.86	3.06	0.35304	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.25531	0.0621	L	0.48218	1.51	0.09310	N	1	B;B	0.23377	0.053;0.084	B;B	0.19391	0.025;0.014	T	0.20472	-1.0274	9	0.46703	T	0.11	.	6.744	0.23451	0.3719:0.5432:0.0:0.0849	.	100;100	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	V	100	ENSP00000430024:A100V	ENSP00000430024:A100V	A	+	2	0	PCDHGA7	140742949	0.000000	0.05858	0.945000	0.38365	0.278000	0.26855	-0.675000	0.05227	0.552000	0.29026	0.655000	0.94253	GCG		0.483	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		5	440	0	0	0	1	0	5	440				
ZNF737	100129842	broad.mit.edu	37	19	20728170	20728170	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:20728170G>C	ENST00000427401.4	-	4	933	c.839C>G	c.(838-840)aCt>aGt	p.T280S		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	280					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(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCTCTCCAGTATGAATTAT	0.413																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(838-840)aCt>aGt		zinc finger protein 737							35.0	35.0	35.0					19																	20728170		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728170G>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.839C>G	19.37:g.20728170G>C	ENSP00000395733:p.Thr280Ser						p.T280S	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	933	-			280					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.839C>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	7.999	0.755032	0.15846	.	.	ENSG00000237440	ENST00000427401	T	0.24151	1.87	0.801	-1.6	0.08426	.	.	.	.	.	T	0.08492	0.0211	N	0.01257	-0.925	0.26687	N	0.97143	B	0.11235	0.004	B	0.20577	0.03	T	0.29852	-0.9998	9	0.56958	D	0.05	.	6.1513	0.20313	0.0:0.3233:0.6767:0.0	.	280	C9JHM3	.	S	280	ENSP00000395733:T280S	ENSP00000395733:T280S	T	-	2	0	ZNF737	20520010	0.013000	0.17824	0.087000	0.20705	0.088000	0.18126	0.098000	0.15189	-1.262000	0.02459	-1.289000	0.01358	ACT		0.413	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		5	440	0	0	0	1	0	5	440				
ZNF85	7639	broad.mit.edu	37	19	21132761	21132761	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:21132761C>A	ENST00000328178.8	+	4	1554	c.1441C>A	c.(1441-1443)Cct>Act	p.P481T	ZNF85_ENST00000345030.6_Missense_Mutation_p.P448T|ZNF85_ENST00000601023.1_Missense_Mutation_p.P422T	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	481					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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AGAAGAGAAACCTTACAAATG	0.358																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(1264-1266)Cct>Act		zinc finger protein 85							25.0	27.0	26.0					19																	21132761		2200	4292	6492	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132761C>A	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1441C>A	19.37:g.21132761C>A	ENSP00000329793:p.Pro481Thr					ZNF85_ENST00000345030.6_Missense_Mutation_p.P448T|ZNF85_ENST00000328178.8_Missense_Mutation_p.P481T	p.P422T			Q03923	ZNF85_HUMAN			2	1910	+			481					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.1264C>A	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	10.32	1.317427	0.23908	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.16897	2.31;2.31	1.35	1.35	0.21983	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20455	0.0492	N	0.11818	0.18	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.989	D;D;D	0.80764	0.978;0.994;0.972	T	0.06770	-1.0808	9	0.72032	D	0.01	.	9.5712	0.39429	0.0:1.0:0.0:0.0	.	448;422;481	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	T	481;448;356	ENSP00000329793:P481T;ENSP00000342340:P448T	ENSP00000329793:P481T	P	+	1	0	ZNF85	20924601	0.776000	0.28616	0.111000	0.21465	0.265000	0.26407	3.718000	0.54919	0.681000	0.31386	0.462000	0.41574	CCT		0.358	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		106	143	1	0	4.98428e-49	1	5.49472e-49	106	143				
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:145293269G>A	ENST00000468030.1	+	5	1125		c.e5+1		NBPF10_ENST00000369338.1_Splice_Site|NBPF10_ENST00000342960.5_5'Flank|NBPF10_ENST00000369339.3_Intron																							TTTCACAACAGTAAGTTAAGA	0.423																																						ENST00000369338.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.e1+1		neuroblastoma breakpoint family, member 10																																				SO:0001630	splice_region_variant	100132406							g.chr1:145293269G>A																												ENST00000468030.1:c.714+1G>A	1.37:g.145293269G>A						NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site				A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	155	+	all_hematologic(923;0.032)								Splice_Site	SNP	ENST00000468030.1	37																																																																																						0.423	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000038553.9		Intron	14	224	0	0	0	1	0	14	224				
KMT2D	8085	broad.mit.edu	37	12	49427983	49427983	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:49427983C>T	ENST00000301067.7	-	38	10606	c.10607G>A	c.(10606-10608)cGc>cAc	p.R3536H	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3536	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCGGGACTTGCGGTGTACACC	0.557																																						ENST00000301067.7																			0											c.(10606-10608)cGc>cAc		lysine (K)-specific methyltransferase 2D							105.0	104.0	104.0					12																	49427983		2027	4198	6225	SO:0001583	missense	8085							g.chr12:49427983C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10607G>A	12.37:g.49427983C>T	ENSP00000301067:p.Arg3536His						p.R3536H	NM_003482.3	NP_003473.3					38	10606	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.10607G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560000	0.45590	.	.	ENSG00000167548	ENST00000301067	T	0.40476	1.03	5.38	5.38	0.77491	.	0.000000	0.37304	N	0.002144	T	0.62048	0.2396	L	0.54323	1.7	0.52501	D	0.999959	D	0.89917	1.0	D	0.85130	0.997	T	0.63355	-0.6656	10	0.87932	D	0	.	18.2915	0.90131	0.0:1.0:0.0:0.0	.	3536	O14686	MLL2_HUMAN	H	3536	ENSP00000301067:R3536H	ENSP00000301067:R3536H	R	-	2	0	MLL2	47714250	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.711000	0.92665	0.563000	0.77884	CGC		0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	953	0	0	0	1	0	7	953				
GPR180	160897	broad.mit.edu	37	13	95264579	95264579	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr13:95264579A>G	ENST00000376958.4	+	3	465	c.440A>G	c.(439-441)gAa>gGa	p.E147G		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	147					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ATCCCATTTGAAATGGTGTTA	0.393																																						ENST00000376958.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10						c.(439-441)gAa>gGa		G protein-coupled receptor 180							139.0	128.0	132.0					13																	95264579		2203	4300	6503	SO:0001583	missense	160897					integral to membrane		g.chr13:95264579A>G	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.440A>G	13.37:g.95264579A>G	ENSP00000366157:p.Glu147Gly						p.E147G	NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN			3	465	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		147					A8K1D5	Missense_Mutation	SNP	ENST00000376958.4	37	c.440A>G	CCDS9472.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546941	0.86022	.	.	ENSG00000152749	ENST00000376958	T	0.50277	0.75	5.28	5.28	0.74379	Rhodopsin-like GPCR transmembrane domain (1);	0.159074	0.56097	D	0.000028	T	0.56992	0.2023	L	0.57536	1.79	0.52501	D	0.999952	D	0.57257	0.979	P	0.54759	0.76	T	0.53662	-0.8407	10	0.26408	T	0.33	-0.1349	15.5031	0.75716	1.0:0.0:0.0:0.0	.	147	Q86V85	GP180_HUMAN	G	147	ENSP00000366157:E147G	ENSP00000366157:E147G	E	+	2	0	GPR180	94062580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.691000	0.84191	2.120000	0.65058	0.528000	0.53228	GAA		0.393	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989		11	550	0	0	0	1	0	11	550				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000564451.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000567960.1_RNA								0	1255	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		17	15	0	0	0	1	0	17	15				
GOLGA3	2802	broad.mit.edu	37	12	133353241	133353241	+	Silent	SNP	T	T	C	rs541227756	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:133353241T>C	ENST00000450791.2	-	20	4140	c.3957A>G	c.(3955-3957)gaA>gaG	p.E1319E	GOLGA3_ENST00000204726.3_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E			Q08378	GOGA3_HUMAN	golgin A3	1319	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGTAGCCCTTCCAGTTCCT	0.587													T|||	45	0.00898562	0.0212	0.0159	5008	,	,		20367	0.0		0.005	False		,,,				2504	0.001					ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3955-3957)gaA>gaG		golgin A3							90.0	83.0	85.0					12																	133353241		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353241T>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3957A>G	12.37:g.133353241T>C						GOLGA3_ENST00000450791.2_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E	p.E1319E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	21	4515	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1319			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.3957A>G	CCDS9281.1																																																																																				0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		6	545	0	0	0	1	0	6	545				
MOCS1	4337	broad.mit.edu	37	6	39876859	39876859	+	Silent	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:39876859C>T	ENST00000340692.5	-	10	1125	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	MOCS1_ENST00000373186.4_Silent_p.Q374Q|MOCS1_ENST00000373188.2_Silent_p.Q374Q|MOCS1_ENST00000373175.4_Silent_p.Q345Q|MOCS1_ENST00000308559.7_Intron|MOCS1_ENST00000432280.2_Silent_p.Q345Q|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000425303.2_Silent_p.Q374Q			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	374	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGTTCTTCATCTGGGAAATAC	0.592																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1120-1122)caG>caA		molybdenum cofactor synthesis 1							103.0	89.0	94.0					6																	39876859		2203	4300	6503	SO:0001819	synonymous_variant	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39876859C>T	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1122G>A	6.37:g.39876859C>T						MOCS1_ENST00000373188.2_Silent_p.Q374Q|MOCS1_ENST00000373175.4_Silent_p.Q345Q|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000432280.2_Silent_p.Q345Q|MOCS1_ENST00000308559.7_Intron|MOCS1_ENST00000425303.2_Silent_p.Q374Q|MOCS1_ENST00000340692.5_Silent_p.Q374Q	p.Q374Q	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN			9	1259	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		374			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	ENST00000340692.5	37	c.1122G>A																																																																																					0.592	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		64	109	0	0	0	1	0	64	109				
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156.0	149.0	152.0					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.G565G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		9	1042	0	0	0	1	0	9	1042				
RP11-423O2.5	0	broad.mit.edu	37	1	142803621	142803621	+	lincRNA	SNP	T	T	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:142803621T>C	ENST00000423385.1	-	0	1344																											TGGAAGAaactaatatctgtt	0.303																																						ENST00000423385.1																			0																																																			0							g.chr1:142803621T>C																													1.37:g.142803621T>C														0	1344	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.303	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			7	228	0	0	0	1	0	7	228				
ZNF57	126295	broad.mit.edu	37	19	2917842	2917842	+	Missense_Mutation	SNP	G	G	A	rs149690257	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:2917842G>A	ENST00000306908.5	+	4	1371	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.R376Q	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCATTCCGAGGTCATTTG	0.428													G|||	2	0.000399361	0.0	0.0	5008	,	,		22693	0.0		0.0	False		,,,				2504	0.002				NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1222-1224)cGa>cAa		zinc finger protein 57							95.0	86.0	89.0					19																	2917842		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917842G>A	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1223G>A	19.37:g.2917842G>A	ENSP00000303696:p.Arg408Gln					ZNF57_ENST00000523428.1_Missense_Mutation_p.R376Q|AC006277.2_ENST00000520090.2_RNA	p.R408Q	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1371	+			408					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1223G>A	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	G	2.637	-0.285137	0.05605	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.04275	3.66;3.66	2.25	-4.5	0.03493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01976	0.0062	N	0.05050	-0.12	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47368	-0.9123	9	0.20046	T	0.44	.	5.4761	0.16695	0.2484:0.0:0.5675:0.1841	.	408	Q68EA5	ZNF57_HUMAN	Q	408;410;376	ENSP00000303696:R408Q;ENSP00000430223:R376Q	ENSP00000303696:R408Q	R	+	2	0	ZNF57	2868842	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.935000	0.01550	-1.296000	0.02353	-0.514000	0.04452	CGA		0.428	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		6	756	0	0	0	1	0	6	756				
GOLGA3	2802	broad.mit.edu	37	12	133353221	133353221	+	Splice_Site	SNP	T	T	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:133353221T>C	ENST00000450791.2	-	20	4160	c.3977A>G	c.(3976-3978)cAg>cGg	p.Q1326R	GOLGA3_ENST00000204726.3_Splice_Site_p.Q1326R|GOLGA3_ENST00000456883.2_Splice_Site_p.Q1326R			Q08378	GOGA3_HUMAN	golgin A3	1326	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CACAGGTACCTGCAGCAGCTG	0.607																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.e21+1		golgin A3							72.0	66.0	68.0					12																	133353221		2203	4300	6503	SO:0001630	splice_region_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353221T>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3978+1A>G	12.37:g.133353221T>C						GOLGA3_ENST00000450791.2_Splice_Site_p.Q1326_splice|GOLGA3_ENST00000456883.2_Splice_Site_p.Q1326_splice	p.Q1326_splice	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	21	4535	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1326			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Splice_Site	SNP	ENST00000450791.2	37	c.3978_splice	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.726933	0.69074	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.78707	-1.2;-1.2;1.61	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.81914	0.986;0.995	D	0.87625	0.2512	10	0.62326	D	0.03	.	15.3743	0.74593	0.0:0.0:0.0:1.0	.	1326;1326	Q08378-2;Q08378	.;GOGA3_HUMAN	R	1326	ENSP00000204726:Q1326R;ENSP00000410378:Q1326R;ENSP00000409303:Q1326R	ENSP00000204726:Q1326R	Q	-	2	0	GOLGA3	131863294	1.000000	0.71417	0.998000	0.56505	0.199000	0.23934	7.566000	0.82347	2.225000	0.72522	0.528000	0.53228	CAG		0.607	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895	Missense_Mutation	7	462	0	0	0	1	0	7	462				
C19orf60	55049	broad.mit.edu	37	19	18702974	18702974	+	Missense_Mutation	SNP	C	C	T	rs573574113		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:18702974C>T	ENST00000358607.6	+	5	667	c.590C>T	c.(589-591)gCg>gTg	p.A197V	C19orf60_ENST00000450195.2_Missense_Mutation_p.A175V|CRLF1_ENST00000594325.1_Intron	NM_001100418.1|NM_001100419.1	NP_001093888.1|NP_001093889.1	Q96EN9	CS060_HUMAN	chromosome 19 open reading frame 60	197																	AGGTTTGATGCGGAATCTGCC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18323	0.0		0.0	False		,,,				2504	0.001					ENST00000358607.6																			0											c.(589-591)gCg>gTg		chromosome 19 open reading frame 60							86.0	85.0	85.0					19																	18702974		1948	4133	6081	SO:0001583	missense	55049						protein binding	g.chr19:18702974C>T	AK000857	CCDS42524.1, CCDS46019.1	19p13.11	2012-10-26			ENSG00000006015	ENSG00000006015			26098	protein-coding gene	gene with protein product						12477932	Standard	NM_001100419		Approved	FLJ20850, FLJ30108, FLJ34606, FLJ37391	uc010ebs.3	Q96EN9		ENST00000358607.6:c.590C>T	19.37:g.18702974C>T	ENSP00000351422:p.Ala197Val					C19orf60_ENST00000450195.2_Missense_Mutation_p.A175V|CRLF1_ENST00000594325.1_Intron	p.A197V	NM_001100418.1|NM_001100419.1	NP_001093888.1|NP_001093889.1	Q96EN9	CS060_HUMAN			5	667	+			197					E9PAS0|Q8NAX4|Q9NWI0	Missense_Mutation	SNP	ENST00000358607.6	37	c.590C>T	CCDS42524.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127567	0.77549	.	.	ENSG00000006015	ENST00000358607;ENST00000450195	.	.	.	4.66	3.62	0.41486	.	7739.210000	0.00166	U	0.000002	T	0.45518	0.1346	M	0.65975	2.015	0.29194	N	0.87563	P;P	0.50272	0.933;0.933	B;B	0.40940	0.344;0.344	T	0.35475	-0.9787	9	0.31617	T	0.26	-9.1686	8.7423	0.34564	0.0:0.8929:0.0:0.1071	.	175;197	E9PAS0;Q96EN9	.;CS060_HUMAN	V	197;175	.	ENSP00000351422:A197V	A	+	2	0	C19orf60	18563974	0.999000	0.42202	0.934000	0.37439	0.976000	0.68499	4.662000	0.61525	0.971000	0.38288	-0.253000	0.11424	GCG		0.587	C19orf60-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000465133.1	NM_017967		5	329	0	0	0	1	0	5	329				
SPDYE3	441272	broad.mit.edu	37	7	99912180	99912180	+	Silent	SNP	G	G	A	rs858635		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:99912180G>A	ENST00000332397.6	+	6	1192	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	336								p.P336P(10)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CCAGCCCCCCGCGTAGGTCCC	0.577																																						ENST00000332397.6																			10	Substitution - coding silent(10)	p.P336P(10)	endometrium(8)|kidney(2)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1006-1008)ccG>ccA		speedy/RINGO cell cycle regulator family member E3																																				SO:0001819	synonymous_variant	441272							g.chr7:99912180G>A	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1008G>A	7.37:g.99912180G>A						SPDYE3_ENST00000437326.2_5'UTR	p.P336P	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			6	1192	+			336					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1008G>A	CCDS47658.2																																																																																				0.577	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		6	352	0	0	0	1	0	6	352				
PPP4C	5531	broad.mit.edu	37	16	30096070	30096070	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:30096070G>T	ENST00000279387.7	+	8	856	c.688G>T	c.(688-690)Gac>Tac	p.D230Y	PPP4C_ENST00000561610.1_Missense_Mutation_p.D230Y	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	230					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CGCAGCCAATGACATTGACAT	0.582																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(688-690)Gac>Tac		protein phosphatase 4, catalytic subunit							171.0	151.0	158.0					16																	30096070		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30096070G>T		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.688G>T	16.37:g.30096070G>T	ENSP00000279387:p.Asp230Tyr					PPP4C_ENST00000561610.1_Missense_Mutation_p.D230Y	p.D230Y	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			8	856	+			230					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.688G>T	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322143	0.60634	.	.	ENSG00000149923	ENST00000279387	T	0.57107	0.42	5.79	5.79	0.91817	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.042136	0.85682	D	0.000000	T	0.73156	0.3551	H	0.95780	3.72	0.80722	D	1	B	0.26120	0.142	B	0.41813	0.367	T	0.76705	-0.2861	10	0.87932	D	0	-12.7488	12.1867	0.54243	0.079:0.0:0.921:0.0	.	230	P60510	PP4C_HUMAN	Y	230	ENSP00000279387:D230Y	ENSP00000279387:D230Y	D	+	1	0	PPP4C	30003571	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	3.838000	0.55828	2.746000	0.94184	0.561000	0.74099	GAC		0.582	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		9	526	1	0	0.00829132	1	0.00838293	9	526				
FAM86DP	692099	broad.mit.edu	37	3	75475607	75475607	+	RNA	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr3:75475607C>T	ENST00000459803.1	-	0	922					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TCACCTAGCTCGGTGGTGAAC	0.652																																						ENST00000459803.1																			0																																																			0							g.chr3:75475607C>T	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475607C>T								NR_024241.1						0	922	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.652	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		3	32	0	0	0	1	0	3	32				
SMARCAL1	50485	broad.mit.edu	37	2	217340008	217340008	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr2:217340008G>A	ENST00000357276.4	+	15	2591	c.2261G>A	c.(2260-2262)cGc>cAc	p.R754H	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R754H	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	754	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CAGCACATCCGCATCGATGGC	0.632									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(2260-2262)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							89.0	74.0	79.0					2																	217340008		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217340008G>A	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2261G>A	2.37:g.217340008G>A	ENSP00000349823:p.Arg754His					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R754H	p.R754H	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	15	2591	+		Renal(323;0.0458)	754			Helicase C-terminal.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.2261G>A	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888319	0.72524	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	T;T;T	0.80033	-1.33;-1.33;-1.33	5.07	4.2	0.49525	Helicase, C-terminal (3);	0.054564	0.85682	N	0.000000	D	0.83603	0.5290	M	0.89478	3.035	0.80722	D	1	B	0.34015	0.435	B	0.36504	0.226	D	0.84430	0.0576	10	0.51188	T	0.08	-9.5983	12.8662	0.57941	0.0784:0.0:0.9216:0.0	.	754	Q9NZC9	SMAL1_HUMAN	H	754;754;596	ENSP00000349823:R754H;ENSP00000350940:R754H;ENSP00000375974:R596H	ENSP00000349823:R754H	R	+	2	0	SMARCAL1	217048253	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.637000	0.83313	1.366000	0.46076	0.655000	0.94253	CGC		0.632	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			87	177	0	0	0	1	0	87	177				
COASY	80347	broad.mit.edu	37	17	40714771	40714771	+	Missense_Mutation	SNP	G	G	A	rs368532520		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:40714771G>A	ENST00000393818.2	+	1	587	c.131G>A	c.(130-132)gGc>gAc	p.G44D	RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000590958.1_Missense_Mutation_p.G73D|COASY_ENST00000449624.1_Intron|COASY_ENST00000420359.1_Missense_Mutation_p.G44D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	44					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTGCAGCCGGGCATGAGCCTG	0.662																																						ENST00000393818.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21						c.(130-132)gGc>gAc		CoA synthase		G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,	2,4402		0,2,2200	37.0	47.0	44.0		131,131,218,131,	4.9	1.0	17		44	0,8592		0,0,4296	no	missense,missense,missense,missense,intron	COASY	NM_001042529.1,NM_001042530.1,NM_001042532.2,NM_025233.5,NM_001042531.1	94,94,94,94,	0,2,6496	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,	44/565,44/565,73/594,44/565,	40714771	2,12994	2202	4296	6498	SO:0001583	missense	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40714771G>A	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.131G>A	17.37:g.40714771G>A	ENSP00000377406:p.Gly44Asp					COASY_ENST00000590958.1_Missense_Mutation_p.G73D|COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000420359.1_Missense_Mutation_p.G44D|COASY_ENST00000449624.1_Intron	p.G44D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	1	587	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	44					B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	c.131G>A	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783426	0.70222	4.54E-4	0.0	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818;ENST00000426807	T;T	0.33438	1.41;1.41	5.84	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	L	0.32530	0.975	0.80722	D	1	P;B	0.41041	0.736;0.043	B;B	0.38500	0.275;0.024	T	0.03068	-1.1076	10	0.48119	T	0.1	-18.0729	12.532	0.56120	0.0803:0.0:0.9197:0.0	.	73;44	Q13057-2;Q13057	.;COASY_HUMAN	D	73;44;44;44	ENSP00000413338:G44D;ENSP00000377406:G44D	ENSP00000377406:G44D	G	+	2	0	COASY	37968297	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	6.902000	0.75699	1.483000	0.48342	0.561000	0.74099	GGC		0.662	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		7	599	0	0	0	1	0	7	599				
ZNF714	148206	broad.mit.edu	37	19	21281113	21281113	+	Missense_Mutation	SNP	C	C	G	rs377697860		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:21281113C>G	ENST00000596143.1	+	3	364	c.39C>G	c.(37-39)ttC>ttG	p.F13L	ZNF714_ENST00000601416.1_Missense_Mutation_p.F13L|ZNF714_ENST00000596053.1_Missense_Mutation_p.F13L|ZNF714_ENST00000291770.7_Missense_Mutation_p.F13L	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ACCTGGTCTTCTTGGGTGAGA	0.338																																						ENST00000596143.1																			0				endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						c.(37-39)ttC>ttG		zinc finger protein 714		C	LEU/PHE	1,4405		0,1,2202	96.0	109.0	104.0		39	-0.6	0.1	19		104	0,8600		0,0,4300	no	missense	ZNF714	NM_182515.3	22	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	13/555	21281113	1,13005	2203	4300	6503	SO:0001583	missense	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21281113C>G	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.39C>G	19.37:g.21281113C>G	ENSP00000472368:p.Phe13Leu					ZNF714_ENST00000601416.1_Missense_Mutation_p.F13L|ZNF714_ENST00000596053.1_Missense_Mutation_p.F13L|ZNF714_ENST00000291770.7_Missense_Mutation_p.F13L	p.F13L	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN			3	364	+			13			KRAB.		Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	c.39C>G	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	1.971	-0.436557	0.04636	2.27E-4	0.0	ENSG00000160352	ENST00000343332;ENST00000291770	T	0.00745	5.75	0.689	-0.569	0.11756	.	.	.	.	.	T	0.02455	0.0075	M	0.72479	2.2	0.19300	N	0.999975	P	0.52842	0.956	P	0.62184	0.899	T	0.39502	-0.9611	8	0.52906	T	0.07	.	.	.	.	.	13	A6NEM4	.	L	13	ENSP00000291770:F13L	ENSP00000291770:F13L	F	+	3	2	ZNF714	21072953	0.026000	0.19158	0.084000	0.20598	0.023000	0.10783	-0.196000	0.09532	-0.171000	0.10797	-0.467000	0.05162	TTC		0.338	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		90	516	0	0	0	1	0	90	516				
ACP7	390928	broad.mit.edu	37	19	39597715	39597715	+	Silent	SNP	G	G	A	rs151134063	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:39597715G>A	ENST00000331256.5	+	12	1516	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		414						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										AGCAGGTGTCGGACGACCAGG	0.622													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16955	0.0		0.0	False		,,,				2504	0.0					ENST00000331256.5																			0											c.(1240-1242)tcG>tcA						2,4404	4.2+/-10.8	0,2,2201	73.0	54.0	60.0		1242	-9.3	0.0	19	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	PAPL	NM_001004318.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		414/439	39597715	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39597715G>A																												ENST00000331256.5:c.1242G>A	19.37:g.39597715G>A						PAPL_ENST00000594229.1_Intron	p.S414S	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN			12	1516	+			414					B2RN68	Silent	SNP	ENST00000331256.5	37	c.1242G>A	CCDS33018.1																																																																																				0.622	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			74	178	0	0	0	1	0	74	178				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	165	0	0	0	1	0	6	165				
ANKS6	203286	broad.mit.edu	37	9	101518807	101518807	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:101518807G>A	ENST00000353234.4	-	12	2268	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S	ANKS6_ENST00000540940.1_Missense_Mutation_p.P546S|ANKS6_ENST00000375018.1_Missense_Mutation_p.P742S|ANKS6_ENST00000375019.2_Missense_Mutation_p.P440S			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	741	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTGGGTGAGGGGGAGGGCGTG	0.562																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(2221-2223)Ccc>Tcc		ankyrin repeat and sterile alpha motif domain containing 6							102.0	107.0	106.0					9																	101518807		2020	4170	6190	SO:0001583	missense	203286							g.chr9:101518807G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2221C>T	9.37:g.101518807G>A	ENSP00000297837:p.Pro741Ser					ANKS6_ENST00000540940.1_Missense_Mutation_p.P546S|ANKS6_ENST00000375018.1_Missense_Mutation_p.P742S|ANKS6_ENST00000375019.2_Missense_Mutation_p.P440S	p.P741S			Q68DC2	ANKS6_HUMAN			12	2268	-		Acute lymphoblastic leukemia(62;0.0527)	741			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.2221C>T	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.052221|4.052221	0.75960|0.75960	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000444472|ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	.|T;T;T;T	.|0.71579	.|1.61;-0.51;-0.58;1.87	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.053247|0.053247	0.85682|0.85682	D|N	0.000000|0.000000	D|D	0.82337|0.82337	0.5015|0.5015	M|M	0.61703|0.61703	1.905|1.905	0.53688|0.53688	D|D	0.999979|0.999979	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	T|T	0.83301|0.83301	-0.0028|-0.0028	6|10	.|0.59425	.|D	.|0.04	-15.3588|-15.3588	16.5758|16.5758	0.84637|0.84637	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|742;741	.|Q68DC2-4;Q68DC2	.|.;ANKS6_HUMAN	L|S	210|440;742;741;546	.|ENSP00000364159:P440S;ENSP00000364158:P742S;ENSP00000297837:P741S;ENSP00000442189:P546S	.|ENSP00000297837:P741S	P|P	-|-	2|1	0|0	ANKS6|ANKS6	100558628|100558628	1.000000|1.000000	0.71417|0.71417	0.308000|0.308000	0.25141|0.25141	0.848000|0.848000	0.48234|0.48234	7.112000|7.112000	0.77086|0.77086	2.529000|2.529000	0.85273|0.85273	0.484000|0.484000	0.47621|0.47621	CCC|CCC		0.562	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		5	381	0	0	0	1	0	5	381				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	480	0	0	0	1	0	5	480				
HMGCR	3156	broad.mit.edu	37	5	74652258	74652258	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:74652258G>T	ENST00000287936.4	+	15	2127	c.1971G>T	c.(1969-1971)atG>atT	p.M657I	HMGCR_ENST00000511206.1_Missense_Mutation_p.M657I|HMGCR_ENST00000343975.5_Missense_Mutation_p.M604I	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	657	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCATGGGGATGAACATGATTT	0.358																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(1969-1971)atG>atT		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						91.0	89.0	90.0					5																	74652258		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74652258G>T		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1971G>T	5.37:g.74652258G>T	ENSP00000287936:p.Met657Ile					HMGCR_ENST00000511206.1_Missense_Mutation_p.M657I|HMGCR_ENST00000343975.5_Missense_Mutation_p.M604I	p.M657I	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	15	2127	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	657			Catalytic.		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.1971G>T	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	34	5.409399	0.96072	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.50548	0.74;0.74;0.74	6.17	6.17	0.99709	Hydroxymethylglutaryl-CoA reductase, class I/II, NAD/NADP-binding (2);Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	0.000000	0.85682	D	0.000000	T	0.81735	0.4885	H	0.97516	4.02	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.80764	0.99;0.993;0.994	D	0.86766	0.1970	10	0.87932	D	0	-31.1918	20.8794	0.99867	0.0:0.0:1.0:0.0	.	657;604;657	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	I	657;588;657;604	ENSP00000426745:M657I;ENSP00000287936:M657I;ENSP00000340816:M604I	ENSP00000287936:M657I	M	+	3	0	HMGCR	74688014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.832000	0.99423	2.941000	0.99782	0.655000	0.94253	ATG		0.358	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			128	287	1	0	4.74804e-72	1	5.33062e-72	128	287				
VCAN	1462	broad.mit.edu	37	5	82815406	82815406	+	Silent	SNP	T	T	C	rs144399722	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:82815406T>C	ENST00000265077.3	+	7	1846	c.1281T>C	c.(1279-1281)acT>acC	p.T427T	VCAN_ENST00000342785.4_Silent_p.T427T|VCAN_ENST00000512590.2_Silent_p.T379T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	427	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|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 organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CCACACCTACTGGCAGTACCA	0.463													T|||	10	0.00199681	0.0076	0.0	5008	,	,		20422	0.0		0.0	False		,,,				2504	0.0					ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(1279-1281)acT>acC		versican		T	,,,	11,4395	15.5+/-35.6	0,11,2192	83.0	85.0	84.0		,,1281,1281	3.5	0.0	5	dbSNP_134	84	0,8600		0,0,4300	no	intron,intron,coding-synonymous,coding-synonymous	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,,,	0,11,6492	CC,CT,TT		0.0,0.2497,0.0846	,,,	,,427/1643,427/3397	82815406	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815406T>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1281T>C	5.37:g.82815406T>C						VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.T379T|VCAN_ENST00000342785.4_Silent_p.T427T|VCAN_ENST00000343200.5_Intron	p.T427T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	1846	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	427			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.1281T>C	CCDS4060.1																																																																																				0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		99	263	0	0	0	1	0	99	263				
RASA1	5921	broad.mit.edu	37	5	86674214	86674214	+	Splice_Site	SNP	T	T	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:86674214T>C	ENST00000274376.6	+	18	2910	c.2346T>C	c.(2344-2346)gaT>gaC	p.D782D	RASA1_ENST00000512763.1_Splice_Site_p.D615D|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000456692.2_Splice_Site_p.D605D|RASA1_ENST00000506290.1_Splice_Site_p.D616D	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	782	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTTGTGTAGATGAAGCCACTA	0.373																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.e18-1		RAS p21 protein activator (GTPase activating protein) 1							88.0	85.0	86.0					5																	86674214		2203	4300	6503	SO:0001630	splice_region_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86674214T>C		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2345-1T>C	5.37:g.86674214T>C						RASA1_ENST00000274376.6_Splice_Site_p.D782_splice|RASA1_ENST00000506290.1_Splice_Site_p.D616_splice|RASA1_ENST00000512763.1_Splice_Site_p.D615_splice	p.D605_splice	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	18	1930	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	782			C2.		B2R6W3|Q9UDI1	Splice_Site	SNP	ENST00000274376.6	37	c.1813_splice	CCDS34200.1																																																																																				0.373	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	Silent	200	144	0	0	0	1	0	200	144				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		15	802	0	0	0	1	0	15	802				
PAPOLB	56903	broad.mit.edu	37	7	4900316	4900316	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:4900316T>A	ENST00000404991.1	-	1	1309	c.1123A>T	c.(1123-1125)Att>Ttt	p.I375F	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	375					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AGAAGTACAATATAATGCTTG	0.423																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(1123-1125)Att>Ttt		poly(A) polymerase beta (testis specific)							133.0	138.0	136.0					7																	4900316		2200	4300	6500	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900316T>A	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1123A>T	7.37:g.4900316T>A	ENSP00000384700:p.Ile375Phe					RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	p.I375F	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1309	-		Ovarian(82;0.0175)	375					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.1123A>T		.	.	.	.	.	.	.	.	.	.	T	15.81	2.942236	0.53079	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	T	0.76786	0.4036	M	0.82823	2.61	0.58432	D	0.999996	D	0.76494	0.999	D	0.76071	0.987	T	0.78902	-0.2021	8	0.87932	D	0	.	7.2978	0.26403	0.1958:0.0:0.0:0.8042	.	376	A4D1Z6	.	F	375	.	ENSP00000384700:I375F	I	-	1	0	PAPOLB	4866842	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	3.899000	0.56288	2.142000	0.66516	0.383000	0.25322	ATT		0.423	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		8	851	0	0	0	1	0	8	851				
FRG1B	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67								p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.R67K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)aGa>aAa																																						SO:0001583	missense	0							g.chr20:29625956G>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.200G>A	20.37:g.29625956G>A	ENSP00000278882:p.Arg67Lys					FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K	p.R67K							5	580	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.200G>A		.	.	.	.	.	.	.	.	.	.	g	9.648	1.140706	0.21205	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.46063	0.88	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	.	.	.	0.46901	D	0.99924	B	0.02656	0.0	B	0.15484	0.013	T	0.07986	-1.0744	9	0.28530	T	0.3	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	72	F5H5R5	.	K	67;72;67	ENSP00000408863:R72K	ENSP00000278882:R67K	R	+	2	0	FRG1B	28239617	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.360000	0.73064	1.250000	0.43966	0.184000	0.17185	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	634	0	0	0	1	0	8	634				
MYO5A	4644	broad.mit.edu	37	15	52643597	52643597	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:52643597G>A	ENST00000399231.3	-	28	3946	c.3703C>T	c.(3703-3705)Cca>Tca	p.P1235S	MYO5A_ENST00000356338.6_Missense_Mutation_p.P1235S|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1235S|MYO5A_ENST00000399233.2_Missense_Mutation_p.P1235S|MYO5A_ENST00000553916.1_Missense_Mutation_p.P1235S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1235					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTCACCTCTGGGGCACTTTTC	0.507																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(3703-3705)Cca>Tca		myosin VA (heavy chain 12, myoxin)							155.0	162.0	160.0					15																	52643597		1977	4152	6129	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52643597G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3703C>T	15.37:g.52643597G>A	ENSP00000382177:p.Pro1235Ser					MYO5A_ENST00000553916.1_Missense_Mutation_p.P1235S|MYO5A_ENST00000399233.2_Missense_Mutation_p.P1235S|MYO5A_ENST00000356338.6_Missense_Mutation_p.P1235S|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1235S	p.P1235S	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	28	3946	-			1235					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.3703C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	5.766	0.325657	0.10900	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916;ENST00000399228	T;T;T;T;T;T	0.16597	3.59;2.33;2.33;3.59;2.33;3.59	5.47	5.47	0.80525	.	0.279922	0.39544	N	0.001330	T	0.10208	0.0250	N	0.08118	0	0.45946	D	0.998772	B;B	0.17667	0.006;0.023	B;B	0.10450	0.003;0.005	T	0.19976	-1.0289	10	0.09338	T	0.73	.	19.704	0.96066	0.0:0.0:1.0:0.0	.	1235;1235	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	S	1235;769;1235;1235;1235;865;1235;28	ENSP00000382177:P1235S;ENSP00000382179:P1235S;ENSP00000348693:P1235S;ENSP00000350945:P1235S;ENSP00000451109:P1235S;ENSP00000382174:P28S	ENSP00000348693:P1235S	P	-	1	0	MYO5A	50430889	1.000000	0.71417	0.997000	0.53966	0.688000	0.40055	3.076000	0.50081	2.726000	0.93360	0.650000	0.86243	CCA		0.507	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		142	283	0	0	0	1	0	142	283				
RILPL1	353116	broad.mit.edu	37	12	123983260	123983260	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:123983260C>T	ENST00000376874.4	-	4	867	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	RILPL1_ENST00000340724.6_Missense_Mutation_p.R59Q	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	211					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CACCGTGACCCGGTGCCGAAG	0.602																																						ENST00000376874.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(631-633)cGg>cAg		Rab interacting lysosomal protein-like 1							98.0	99.0	98.0					12																	123983260		2010	4180	6190	SO:0001583	missense	353116				neuroprotection	cytosol		g.chr12:123983260C>T	AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.632G>A	12.37:g.123983260C>T	ENSP00000366070:p.Arg211Gln					RILPL1_ENST00000340724.6_Missense_Mutation_p.R59Q	p.R211Q	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)	4	867	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		211					Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	c.632G>A	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884290	0.91814	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	T;T	0.52754	1.25;0.65	5.23	5.23	0.72850	.	0.142257	0.47852	D	0.000212	T	0.60209	0.2251	M	0.66939	2.045	0.80722	D	1	P;P;D	0.67145	0.948;0.913;0.996	B;B;P	0.54100	0.322;0.227;0.742	T	0.56232	-0.8013	10	0.26408	T	0.33	-7.536	19.184	0.93635	0.0:1.0:0.0:0.0	.	187;211;60	Q5EBL4-2;Q5EBL4;Q5EBL4-3	.;RIPL1_HUMAN;.	Q	211;59	ENSP00000366070:R211Q;ENSP00000345874:R59Q	ENSP00000345874:R59Q	R	-	2	0	RILPL1	122549213	1.000000	0.71417	0.944000	0.38274	0.983000	0.72400	4.271000	0.58902	2.614000	0.88457	0.561000	0.74099	CGG		0.602	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		71	747	0	0	0	1	0	71	747				
SYNE2	23224	broad.mit.edu	37	14	64519024	64519024	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr14:64519024C>T	ENST00000344113.4	+	48	8605	c.8393C>T	c.(8392-8394)aCc>aTc	p.T2798I	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.T2798I|SYNE2_ENST00000554584.1_Missense_Mutation_p.T2831I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2798					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCCTTACAACCTATGAGGGC	0.398																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8392-8394)aCc>aTc		spectrin repeat containing, nuclear envelope 2							101.0	94.0	96.0					14																	64519024		1902	4114	6016	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64519024C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8393C>T	14.37:g.64519024C>T	ENSP00000341781:p.Thr2798Ile					SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.T2798I|SYNE2_ENST00000554584.1_Missense_Mutation_p.T2831I	p.T2798I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8623	+			2798					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8393C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	2.839	-0.240834	0.05944	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.34072	1.38;1.38;1.38	5.27	2.12	0.27331	.	1.085380	0.07222	N	0.860997	T	0.20618	0.0496	N	0.08118	0	0.09310	N	0.999999	B;B	0.13594	0.005;0.008	B;B	0.13407	0.004;0.009	T	0.24368	-1.0162	10	0.37606	T	0.19	.	8.5814	0.33630	0.3134:0.6075:0.0:0.0791	.	2798;2798	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	I	2798;2798;2831;2831	ENSP00000350719:T2798I;ENSP00000341781:T2798I;ENSP00000452570:T2831I	ENSP00000261678:T2831I	T	+	2	0	SYNE2	63588777	0.000000	0.05858	0.000000	0.03702	0.632000	0.37999	0.671000	0.25172	0.607000	0.29982	0.313000	0.20887	ACC		0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		257	301	0	0	0	1	0	257	301				
ZNF273	10793	broad.mit.edu	37	7	64388822	64388822	+	Silent	SNP	A	A	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:64388822A>G	ENST00000476120.1	+	4	1187	c.1116A>G	c.(1114-1116)aaA>aaG	p.K372K	ZNF273_ENST00000319636.5_Silent_p.K307K|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K372K(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTGGAGAGAAACCCTACAAAT	0.383																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1																			2	Substitution - coding silent(2)	p.K372K(2)	prostate(1)|kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1114-1116)aaA>aaG		zinc finger protein 273							50.0	54.0	52.0					7																	64388822		2203	4294	6497	SO:0001819	synonymous_variant	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64388822A>G	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1116A>G	7.37:g.64388822A>G						ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Silent_p.K307K	p.K372K	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN			4	1187	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	372					B3KQZ5|Q6P3V4	Silent	SNP	ENST00000476120.1	37	c.1116A>G	CCDS5528.2																																																																																				0.383	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			7	669	0	0	0	1	0	7	669				
TROAP	10024	broad.mit.edu	37	12	49724313	49724313	+	Missense_Mutation	SNP	G	G	T	rs199744032		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:49724313G>T	ENST00000257909.3	+	13	1761	c.1685G>T	c.(1684-1686)aGt>aTt	p.S562I	TROAP_ENST00000547923.1_Missense_Mutation_p.S270I|TROAP_ENST00000551245.1_Missense_Mutation_p.S562I	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	562	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.S562I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGCTGTAGGAGTGAGCCTGAG	0.592																																						ENST00000551245.1																			1	Substitution - Missense(1)	p.S562I(1)	lung(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(1684-1686)aGt>aTt		trophinin associated protein		G	ILE/SER	1,4405		0,1,2202	69.0	67.0	68.0		1685	-1.1	0.0	12		68	0,8600		0,0,4300	no	missense	TROAP	NM_005480.3	142	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	562/779	49724313	1,13005	2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49724313G>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1685G>T	12.37:g.49724313G>T	ENSP00000257909:p.Ser562Ile					TROAP_ENST00000257909.3_Missense_Mutation_p.S562I|TROAP_ENST00000547923.1_Missense_Mutation_p.S270I	p.S562I			Q12815	TROAP_HUMAN			13	1796	+			562			4 X 33 AA approximate tandem repeats.|Cys-rich.		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1685G>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880628	0.33255	2.27E-4	0.0	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	3.47	-1.09	0.09904	.	.	.	.	.	T	0.15652	0.0377	N	0.22421	0.69	0.09310	N	1	B;B;P	0.35982	0.001;0.001;0.531	B;B;B	0.34779	0.002;0.002;0.189	T	0.14671	-1.0464	8	0.51188	T	0.08	.	1.3245	0.02123	0.2218:0.1838:0.4332:0.1612	.	562;270;562	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	I	562;562;270	.	ENSP00000257909:S562I	S	+	2	0	TROAP	48010580	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.031000	0.13710	-0.625000	0.05604	0.313000	0.20887	AGT		0.592	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		7	424	1	0	2.0095e-06	1	2.10136e-06	7	424				
SIGLEC15	284266	broad.mit.edu	37	18	43417042	43417042	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr18:43417042C>T	ENST00000389474.3	+	2	318	c.101C>T	c.(100-102)aCa>aTa	p.T34I	SIGLEC15_ENST00000546268.1_5'UTR|SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000587418.1_5'Flank	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	34					cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ttgctcaacacagaggtgcac	0.438																																						ENST00000389474.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(100-102)aCa>aTa		sialic acid binding Ig-like lectin 15							99.0	99.0	99.0					18																	43417042		2203	4300	6503	SO:0001583	missense	284266					integral to membrane		g.chr18:43417042C>T	AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27596	protein-coding gene	gene with protein product			"""CD33 antigen-like 3"", ""CD33 molecule-like 3"""	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.101C>T	18.37:g.43417042C>T	ENSP00000374125:p.Thr34Ile					SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_5'UTR	p.T34I	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN			2	318	+			34					A8K2Y5|B4DVQ9	Missense_Mutation	SNP	ENST00000389474.3	37	c.101C>T	CCDS32819.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261307	0.23051	.	.	ENSG00000197046	ENST00000389474	T	0.32023	1.47	3.37	3.37	0.38596	.	0.221360	0.24745	N	0.035946	T	0.34308	0.0893	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.02444	-1.1158	10	0.16420	T	0.52	-6.5362	10.5232	0.44931	0.0:1.0:0.0:0.0	.	34	Q6ZMC9	SIG15_HUMAN	I	34	ENSP00000374125:T34I	ENSP00000374125:T34I	T	+	2	0	SIGLEC15	41671040	1.000000	0.71417	0.938000	0.37757	0.808000	0.45660	3.014000	0.49590	2.200000	0.70718	0.462000	0.41574	ACA		0.438	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602		170	244	0	0	0	1	0	170	244				
ZNF429	353088	broad.mit.edu	37	19	21720411	21720411	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:21720411T>A	ENST00000358491.4	+	4	1764	c.1556T>A	c.(1555-1557)aTc>aAc	p.I519N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	519					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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAAGCTTTTATCCTGTCCTCA	0.378																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1555-1557)aTc>aAc		zinc finger protein 429							38.0	42.0	41.0					19																	21720411		2126	4266	6392	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720411T>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1556T>A	19.37:g.21720411T>A	ENSP00000351280:p.Ile519Asn					ZNF429_ENST00000597078.1_Intron	p.I519N	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	1764	+			519					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1556T>A	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.870633	0.00063	.	.	ENSG00000197013	ENST00000358491	T	0.10573	2.86	0.81	-0.528	0.11905	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.03000	-0.44	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.46735	-0.9170	9	0.08179	T	0.78	.	4.4571	0.11649	0.0:0.4831:0.0:0.5169	.	519	Q86V71	ZN429_HUMAN	N	519	ENSP00000351280:I519N	ENSP00000351280:I519N	I	+	2	0	ZNF429	21512251	0.000000	0.05858	0.733000	0.30861	0.733000	0.41908	-1.856000	0.01662	0.156000	0.19299	0.155000	0.16302	ATC		0.378	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		6	564	0	0	0	1	0	6	564				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		5	171	0	0	0	1	0	5	171				
SRSF6	6431	broad.mit.edu	37	20	42088842	42088842	+	Missense_Mutation	SNP	G	G	A	rs147863077	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:42088842G>A	ENST00000244020.3	+	4	657	c.551G>A	c.(550-552)cGc>cAc	p.R184H		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	184	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GATAAGCCACGCACAAGCCAT	0.418																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(550-552)cGc>cAc		serine/arginine-rich splicing factor 6		G	HIS/ARG	2,4404		0,2,2201	38.0	40.0	40.0		551	6.0	1.0	20	dbSNP_134	40	5,8589		0,5,4292	yes	missense	SRSF6	NM_006275.5	29	0,7,6493	AA,AG,GG		0.0582,0.0454,0.0538	probably-damaging	184/345	42088842	7,12993	2203	4297	6500	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088842G>A	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.551G>A	20.37:g.42088842G>A	ENSP00000244020:p.Arg184His						p.R184H	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			4	657	+			184			Arg/Ser-rich (RS domain).		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.551G>A	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529480	0.64860	4.54E-4	5.82E-4	ENSG00000124193	ENST00000244020	T	0.11821	2.74	5.98	5.98	0.97165	Nucleotide-binding, alpha-beta plait (1);	0.107759	0.64402	D	0.000005	T	0.20373	0.0490	L	0.55103	1.725	0.58432	D	0.999992	D;D	0.67145	0.989;0.996	P;P	0.46320	0.474;0.512	T	0.00254	-1.1874	10	0.37606	T	0.19	.	17.3688	0.87370	0.0:0.0:1.0:0.0	.	184;184	Q13247;A8K588	SRSF6_HUMAN;.	H	184	ENSP00000244020:R184H	ENSP00000244020:R184H	R	+	2	0	SRSF6	41522256	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	5.977000	0.70492	2.838000	0.97847	0.591000	0.81541	CGC		0.418	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		64	230	0	0	0	1	0	64	230				
ZNF626	199777	broad.mit.edu	37	19	20807517	20807517	+	Missense_Mutation	SNP	A	A	C	rs369061479		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:20807517A>C	ENST00000601440.1	-	4	1312	c.1166T>G	c.(1165-1167)aTa>aGa	p.I389R	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTATGAATTATCTTATGCGT	0.383																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1165-1167)aTa>aGa		zinc finger protein 626							58.0	61.0	60.0					19																	20807517		2137	4276	6413	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807517A>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1166T>G	19.37:g.20807517A>C	ENSP00000469958:p.Ile389Arg					CTC-513N18.7_ENST00000595094.1_lincRNA	p.I389R	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1312	-			389					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1166T>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-3.420587	0.00013	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06280	0.0162	N	0.00072	-2.265	0.42855	D	0.994096	B	0.06786	0.001	B	0.13407	0.009	T	0.37888	-0.9686	8	0.02654	T	1	.	3.6201	0.08092	0.5901:0.4099:0.0:0.0	.	389	Q68DY1	ZN626_HUMAN	R	389;313;389	.	ENSP00000445201:I389R	I	-	2	0	ZNF626	20599357	0.000000	0.05858	0.055000	0.19348	0.055000	0.15305	-2.406000	0.01044	0.243000	0.21327	0.240000	0.17902	ATA		0.383	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		7	725	0	0	0	1	0	7	725				
MSR1	4481	broad.mit.edu	37	8	15967636	15967636	+	Silent	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr8:15967636G>A	ENST00000262101.5	-	10	1435	c.1314C>T	c.(1312-1314)gcC>gcT	p.A438A	MSR1_ENST00000445506.2_Silent_p.A456A|MSR1_ENST00000350896.3_Silent_p.A375A|MSR1_ENST00000355282.2_Silent_p.A375A			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	438	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AATGTGAACAGGCTCTTGTCC	0.368																																						ENST00000350896.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1123-1125)gcC>gcT		macrophage scavenger receptor 1							96.0	96.0	96.0					8																	15967636		2203	4300	6503	SO:0001819	synonymous_variant	0				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:15967636G>A	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1314C>T	8.37:g.15967636G>A						MSR1_ENST00000262101.5_Silent_p.A438A|MSR1_ENST00000445506.2_Silent_p.A456A|MSR1_ENST00000355282.2_Silent_p.A375A	p.A375A	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	9	1322	-			438			SRCR.		D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	37	c.1125C>T	CCDS5995.1																																																																																				0.368	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			5	361	0	0	0	1	0	5	361				
PRAMEF1	65121	broad.mit.edu	37	1	12853441	12853441	+	Missense_Mutation	SNP	C	C	A	rs75270454		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:12853441C>A	ENST00000332296.7	+	2	168	c.65C>A	c.(64-66)gCc>gAc	p.A22D	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	22					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.A22D(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGACCAGGCCTTGTCCATC	0.562																																						ENST00000332296.7																			2	Substitution - Missense(2)	p.A22D(2)	kidney(2)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(64-66)gCc>gAc		PRAME family member 1							71.0	79.0	76.0					1																	12853441		2202	4294	6496	SO:0001583	missense	65121							g.chr1:12853441C>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.65C>A	1.37:g.12853441C>A	ENSP00000332134:p.Ala22Asp						p.A22D	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	168	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	22					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.65C>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	4.513	0.095223	0.08681	.	.	ENSG00000116721	ENST00000332296	T	0.18016	2.24	1.64	-2.04	0.07343	.	0.350802	0.29537	N	0.011869	T	0.18173	0.0436	M	0.73217	2.22	0.09310	N	1	P	0.48089	0.905	P	0.48400	0.576	T	0.11397	-1.0589	10	0.48119	T	0.1	.	1.0347	0.01546	0.2203:0.4057:0.217:0.157	.	22	O95521	PRAM1_HUMAN	D	22	ENSP00000332134:A22D	ENSP00000332134:A22D	A	+	2	0	PRAMEF1	12776028	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.630000	0.05502	-0.611000	0.05709	-3.517000	0.00032	GCC		0.562	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		7	564	1	0	1.16021e-09	1	1.24893e-09	7	564				
BPIFB4	149954	broad.mit.edu	37	20	31685516	31685516	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:31685516G>A	ENST00000375483.3	+	11	1492	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	498						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CAAAGCGCTGGTGAAGGTGTT	0.572																																						ENST00000375483.3																			0											c.(1492-1494)Gtg>Atg		BPI fold containing family B, member 4							140.0	106.0	117.0					20																	31685516		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31685516G>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1492G>A	20.37:g.31685516G>A	ENSP00000364632:p.Val498Met						p.V498M	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			11	1492	+			498					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1492G>A	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633350	0.67015	.	.	ENSG00000186191	ENST00000375483	T	0.11604	2.76	5.44	5.44	0.79542	.	0.086502	0.48286	D	0.000185	T	0.32941	0.0846	M	0.74258	2.255	0.45777	D	0.998669	D	0.76494	0.999	D	0.72338	0.977	T	0.01169	-1.1430	10	0.56958	D	0.05	-17.807	15.1038	0.72303	0.0:0.0:1.0:0.0	.	498	P59827	BPIB4_HUMAN	M	498	ENSP00000364632:V498M	ENSP00000364632:V498M	V	+	1	0	BPIFB4	31149177	1.000000	0.71417	0.999000	0.59377	0.806000	0.45545	3.480000	0.53172	2.711000	0.92665	0.462000	0.41574	GTG		0.572	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		129	391	0	0	0	1	0	129	391				
ZNF493	284443	broad.mit.edu	37	19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:21606468C>T	ENST00000355504.4	+	2	889	c.623C>T	c.(622-624)cCt>cTt	p.P208L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.P336L	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1006-1008)cCt>cTt		zinc finger protein 493							37.0	41.0	39.0					19																	21606468		2199	4296	6495	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606468C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.623C>T	19.37:g.21606468C>T	ENSP00000347691:p.Pro208Leu					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L	p.P336L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1116	+			208					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1007C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.890286	0.00527	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07114	3.22;3.22	0.985	0.985	0.19779	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00967	0.0032	N	0.00014	-2.9	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41945	-0.9480	9	0.02654	T	1	.	4.9966	0.14243	0.0:0.1966:0.0:0.8034	.	208;336	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	336;208	ENSP00000376110:P336L;ENSP00000347691:P208L	ENSP00000347691:P208L	P	+	2	0	ZNF493	21398308	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	1.348000	0.33987	-0.723000	0.04915	-0.773000	0.03387	CCT		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		8	601	0	0	0	1	0	8	601				
FRG1B	284802	broad.mit.edu	37	20	29628270	29628270	+	Missense_Mutation	SNP	G	G	A	rs545391756	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:29628270G>A	ENST00000278882.3	+	6	652	c.272G>A	c.(271-273)tGc>tAc	p.C91Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.C91Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.C96Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	91										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTTATTAGATGCAATGAAGCA	0.363													.|||	3	0.000599042	0.0	0.0029	5008	,	,		60821	0.001		0.0	False		,,,				2504	0.0					ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(271-273)tGc>tAc																																						SO:0001583	missense	0							g.chr20:29628270G>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.272G>A	20.37:g.29628270G>A	ENSP00000278882:p.Cys91Tyr					FRG1B_ENST00000358464.4_Missense_Mutation_p.C91Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.C96Y	p.C91Y							6	652	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.272G>A		.	.	.	.	.	.	.	.	.	.	g	4.726	0.135070	0.09032	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.43294	0.95	2.08	2.08	0.27032	Actin cross-linking (1);	0.051706	0.85682	D	0.000000	T	0.39545	0.1082	.	.	.	0.29852	N	0.828316	B;P	0.40970	0.008;0.734	B;P	0.46850	0.036;0.529	T	0.31668	-0.9935	9	0.34782	T	0.22	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	96;91	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	Y	91;96;91	ENSP00000408863:C96Y	ENSP00000278882:C91Y	C	+	2	0	FRG1B	28241931	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.129000	0.64739	1.475000	0.48197	0.423000	0.28283	TGC		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	743	0	0	0	1	0	6	743				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			13	414	1	0	1.33834e-09	1	1.43226e-09	13	414				
LDB3	11155	broad.mit.edu	37	10	88459097	88459097	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr10:88459097G>C	ENST00000372066.3	+	8	897	c.818G>C	c.(817-819)gGc>gCc	p.G273A	LDB3_ENST00000372056.4_Missense_Mutation_p.G388A|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.G320A|LDB3_ENST00000352360.5_Intron	NM_001080116.1	NP_001073585.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGGCACCATGGCCTTTCAGCC	0.522																																						ENST00000372056.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1162-1164)gGc>gCc		LIM domain binding 3							146.0	155.0	152.0					10																	88459097		1907	4132	6039	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88459097G>C	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000372066.3:c.818G>C	10.37:g.88459097G>C	ENSP00000361136:p.Gly273Ala					LDB3_ENST00000429277.2_Intron|LDB3_ENST00000372066.3_Missense_Mutation_p.G273A|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.G320A|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000458213.2_Intron	p.G388A	NM_001171611.1	NP_001165082.1	O75112	LDB3_HUMAN			8	1186	+			0						Missense_Mutation	SNP	ENST00000372066.3	37	c.1163G>C	CCDS41545.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596129	0.86953	.	.	ENSG00000122367	ENST00000372066;ENST00000372056;ENST00000310944	T;T;T	0.44482	1.05;0.92;1.13	5.23	4.33	0.51752	.	.	.	.	.	T	0.60209	0.2251	M	0.62723	1.935	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.975;0.937;0.998	T	0.60692	-0.7213	9	0.42905	T	0.14	.	13.8376	0.63419	0.0731:0.0:0.9269:0.0	.	388;320;273	O75112-4;O75112-5;O75112-6	.;.;.	A	273;388;320	ENSP00000361136:G273A;ENSP00000361126:G388A;ENSP00000311913:G320A	ENSP00000311913:G320A	G	+	2	0	LDB3	88449077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.171000	0.77595	1.448000	0.47680	0.561000	0.74099	GGC		0.522	LDB3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049161.1			372	59	0	0	0	1	0	372	59				
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	lincRNA	SNP	A	A	G	rs577974396	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522																																						ENST00000565869.1																			0																																																			0							g.chr15:78211648A>G																													15.37:g.78211648A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.522	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	184	0	0	0	1	0	4	184				
KLF12	11278	broad.mit.edu	37	13	74387392	74387392	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr13:74387392G>T	ENST00000377669.2	-	4	729	c.703C>A	c.(703-705)Caa>Aaa	p.Q235K	KLF12_ENST00000377666.4_Missense_Mutation_p.Q235K|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	235					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		CTTTTACTTTGTCTGGGAGAT	0.443																																						ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(703-705)Caa>Aaa		Kruppel-like factor 12							215.0	190.0	199.0					13																	74387392		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74387392G>T	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.703C>A	13.37:g.74387392G>T	ENSP00000366897:p.Gln235Lys					KLF12_ENST00000377666.4_Missense_Mutation_p.Q235K|KLF12_ENST00000472022.1_5'UTR	p.Q235K	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	4	729	-		Prostate(6;0.00217)|Breast(118;0.0838)	235					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.703C>A	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346256	0.61073	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.01455	4.87;4.87	5.47	4.57	0.56435	.	0.061213	0.64402	D	0.000001	T	0.01523	0.0049	N	0.19112	0.55	0.51767	D	0.999938	B	0.17038	0.02	B	0.14578	0.011	T	0.54754	-0.8246	10	0.08179	T	0.78	.	15.1641	0.72807	0.0:0.1413:0.8587:0.0	.	235	Q9Y4X4	KLF12_HUMAN	K	235	ENSP00000366897:Q235K;ENSP00000366894:Q235K	ENSP00000344057:Q235K	Q	-	1	0	KLF12	73285393	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.510000	0.81708	2.721000	0.93114	0.655000	0.94253	CAA		0.443	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		261	361	1	0	4.44338e-121	1	5.08212e-121	261	361				
TRBV7-7	28591	broad.mit.edu	37	7	142119945	142119945	+	RNA	SNP	T	T	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:142119945T>C	ENST00000390377.1	-	0	221									T cell receptor beta variable 7-7																		CTGATTTGTCTGGTTGAGCTT	0.532																																						ENST00000390377.1																			0																				71.0	69.0	69.0					7																	142119945		1905	4113	6018			0							g.chr7:142119945T>C	L36092		7q34	2012-02-07			ENSG00000253291	ENSG00000253291		"""T cell receptors / TRB locus"""	12241	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV77, TCRBV6S6A2T, TCRBV7S7			OTTHUMG00000158872		7.37:g.142119945T>C														0	221	-									RNA	SNP	ENST00000390377.1	37																																																																																						0.532	TRBV7-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352480.1	NG_001333		225	284	0	0	0	1	0	225	284				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000394173.4_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.R129W(4)	endometrium(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)Cgg>Tgg		CD209 molecule							89.0	92.0	91.0					19																	7810767		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810767G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.385C>T	19.37:g.7810767G>A	ENSP00000315477:p.Arg129Trp					CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000394173.4_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W	p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	407	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.385C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167766	0.38315	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;2.27	1.37	0.149	0.14863	.	.	.	.	.	T	0.24236	0.0587	L	0.28192	0.835	0.09310	N	1	B;B;D;D;B;D;B;B;B;B	0.64830	0.021;0.005;0.968;0.994;0.012;0.985;0.007;0.011;0.01;0.012	B;B;P;P;B;P;B;B;B;B	0.54815	0.008;0.008;0.534;0.761;0.005;0.663;0.002;0.006;0.003;0.009	T	0.12016	-1.0564	9	0.56958	D	0.05	.	4.5792	0.12250	0.0:0.0:0.6254:0.3746	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	W	129;129;105;85;129;85;113	ENSP00000315477:R129W;ENSP00000346373:R129W;ENSP00000315407:R105W;ENSP00000204801:R85W;ENSP00000301357:R85W	ENSP00000204801:R85W	R	-	1	2	CD209	7716767	0.000000	0.05858	0.010000	0.14722	0.462000	0.32619	-0.010000	0.12743	0.103000	0.17682	0.449000	0.29647	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		7	1507	0	0	0	1	0	7	1507				
TRIM47	91107	broad.mit.edu	37	17	73870863	73870863	+	Missense_Mutation	SNP	G	G	C	rs371497987		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:73870863G>C	ENST00000254816.2	-	6	1644	c.1618C>G	c.(1618-1620)Ctg>Gtg	p.L540V	TRIM47_ENST00000587339.1_Missense_Mutation_p.L302V|RP11-552F3.9_ENST00000586076.1_RNA	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	540	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGTGGGGCAGGGGAGCCTCC	0.667																																						ENST00000254816.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1618-1620)Ctg>Gtg		tripartite motif containing 47		G	VAL/LEU	1,4405		0,1,2202	39.0	46.0	44.0		1618	4.2	0.9	17		44	0,8600		0,0,4300	no	missense	TRIM47	NM_033452.2	32	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	possibly-damaging	540/639	73870863	1,13005	2203	4300	6503	SO:0001583	missense	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73870863G>C	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1618C>G	17.37:g.73870863G>C	ENSP00000254816:p.Leu540Val					TRIM47_ENST00000587339.1_Missense_Mutation_p.L302V	p.L540V	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1644	-			540			B30.2/SPRY.		Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	37	c.1618C>G	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544050	0.45280	2.27E-4	0.0	ENSG00000132481	ENST00000254816	T	0.65732	-0.17	5.18	4.21	0.49690	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.49305	D	0.000155	T	0.52484	0.1737	L	0.59967	1.855	0.19775	N	0.99996	P	0.39094	0.659	B	0.38921	0.285	T	0.43669	-0.9377	10	0.25751	T	0.34	.	5.2986	0.15766	0.1687:0.0:0.6244:0.2069	.	540	Q96LD4	TRI47_HUMAN	V	540	ENSP00000254816:L540V	ENSP00000254816:L540V	L	-	1	2	TRIM47	71382458	0.996000	0.38824	0.870000	0.34147	0.845000	0.48019	1.542000	0.36137	1.188000	0.43014	0.561000	0.74099	CTG		0.667	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			209	143	0	0	0	1	0	209	143				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		12	423	0	0	0	1	0	12	423				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	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		7	251	0	0	0	1	0	7	251				
ATM	472	broad.mit.edu	37	11	108236153	108236153	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:108236153G>T	ENST00000452508.2	+	64	9278	c.9089G>T	c.(9088-9090)gGa>gTa	p.G3030V	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000278616.4_Missense_Mutation_p.G3030V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3030	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGTGTTGGTGGACAAGTGAAT	0.433			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(9088-9090)gGa>gTa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							143.0	138.0	140.0					11																	108236153		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108236153G>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9089G>T	11.37:g.108236153G>T	ENSP00000388058:p.Gly3030Val	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.G3030V|ATM_ENST00000525178.1_3'UTR	p.G3030V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	63	9474	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	3030			FATC.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.9089G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590243	0.66105	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.78816	-1.21;-1.21	5.09	5.09	0.68999	PIK-related kinase, FATC (2);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	D	0.90793	0.7109	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92468	0.5983	10	0.72032	D	0.01	.	18.7508	0.91814	0.0:0.0:1.0:0.0	.	3030	Q13315	ATM_HUMAN	V	3030	ENSP00000278616:G3030V;ENSP00000388058:G3030V	ENSP00000278616:G3030V	G	+	2	0	ATM	107741363	1.000000	0.71417	0.999000	0.59377	0.136000	0.21042	9.405000	0.97313	2.657000	0.90304	0.558000	0.71614	GGA		0.433	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		88	126	1	0	3.33908e-46	1	3.63721e-46	88	126				
KCNA6	3742	broad.mit.edu	37	12	4919415	4919415	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:4919415C>T	ENST00000280684.3	+	1	1074	c.208C>T	c.(208-210)Cct>Tct	p.P70S	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.P70S			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	70					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GCTCGGAGACCCTGGCCGGCG	0.607										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(208-210)Cct>Tct		potassium voltage-gated channel, shaker-related subfamily, member 6							45.0	46.0	46.0					12																	4919415		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919415C>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.208C>T	12.37:g.4919415C>T	ENSP00000280684:p.Pro70Ser	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.P70S	p.P70S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1074	+			70						Missense_Mutation	SNP	ENST00000280684.3	37	c.208C>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327646	0.81690	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76709	-1.04;-1.04	4.57	4.57	0.56435	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.239734	0.43416	D	0.000567	D	0.84924	0.5580	M	0.77406	2.37	0.80722	D	1	P	0.50369	0.934	P	0.54499	0.754	D	0.86609	0.1871	10	0.52906	T	0.07	.	16.5124	0.84289	0.0:1.0:0.0:0.0	.	70	P17658	KCNA6_HUMAN	S	70	ENSP00000408321:P70S;ENSP00000280684:P70S	ENSP00000280684:P70S	P	+	1	0	KCNA6	4789676	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	7.517000	0.81783	2.363000	0.80096	0.462000	0.41574	CCT		0.607	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		204	154	0	0	0	1	0	204	154				
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:8716284_8716285delTC	ENST00000337907.3	-	3	706_707	c.72_73delGA	c.(70-75)gagaaafs	p.K25fs	RERE_ENST00000400907.2_Frame_Shift_Del_p.K25fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.K25fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	25					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCTCTTTTCtctctctctc	0.505																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(70-75)gaaafs		arginine-glutamic acid dipeptide (RE) repeats																																				SO:0001589	frameshift_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716284_8716285delTC	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.72_73delGA	1.37:g.8716294_8716295delTC	ENSP00000338629:p.Lys25fs					RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs	p.EK24fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	706_707	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	24					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Del	DEL	ENST00000337907.3	37	c.72_73delGA	CCDS95.1																																																																																				0.505	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			10	653						10	653	---	---	---	---
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	-	T	rs570205705		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:12785492_12785493insT	ENST00000359318.5	+	4	787_788	c.582_583insT	c.(583-585)tgtfs	p.C195fs	AADACL3_ENST00000332530.3_Frame_Shift_Ins_p.C125fs	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195			C -> F (in dbSNP:rs7513079). {ECO:0000269|PubMed:14702039}.				hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(370-375)tagtttfs		arylacetamide deacetylase-like 3																																				SO:0001589	frameshift_variant	126767						hydrolase activity	g.chr1:12785492_12785493insT		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.583dupT	1.37:g.12785493_12785493dupT	ENSP00000352268:p.Cys195fs					AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs	p.*F124fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	598_599	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	194					B3KXR9|Q5VUY1	Frame_Shift_Ins	INS	ENST00000359318.5	37	c.372_373insT	CCDS41253.1																																																																																				0.455	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		9	694						9	694	---	---	---	---
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	CTT	-	rs138237342		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:29475219_29475221delCTT	ENST00000373795.4	-	6	1420_1422	c.1186_1188delAAG	c.(1186-1188)aagdel	p.K396del	RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	396	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(1186-1188)del		serine/arginine-rich splicing factor 4				32,4234		1,30,2102						4.8	1.0			113	49,8205		3,43,4081	no	coding	SRSF4	NM_005626.4		4,73,6183	A1A1,A1R,RR		0.5937,0.7501,0.647				81,12439				SO:0001651	inframe_deletion	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475219_29475221delCTT	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1186_1188delAAG	1.37:g.29475228_29475230delCTT	ENSP00000362900:p.Lys396del					SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	p.K396del	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1420_1422	-			396			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	In_Frame_Del	DEL	ENST00000373795.4	37	c.1186_1188delAAG	CCDS333.1																																																																																				0.601	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		7	526						7	526	---	---	---	---
ZMYM4	9202	broad.mit.edu	37	1	35846959	35846960	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:35846959_35846960insA	ENST00000314607.6	+	8	1361_1362	c.1281_1282insA	c.(1282-1284)aaafs	p.K428fs	ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.K428fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	428					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATATGAACTGAAAAAAAAACC	0.342																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(1279-1284)ctaaaafs		zinc finger, MYM-type 4																																				SO:0001589	frameshift_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35846959_35846960insA	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1290dupA	1.37:g.35846968_35846968dupA	ENSP00000322915:p.Lys428fs					ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs	p.LK427fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			8	1361_1362	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	427					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Frame_Shift_Ins	INS	ENST00000314607.6	37	c.1281_1282insA	CCDS389.1																																																																																				0.342	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		7	327						7	327	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39799857	39799857	+	Missense_Mutation	SNP	G	G	A	rs371939396		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:39799857G>A	ENST00000372915.3	+	36	7699	c.7612G>A	c.(7612-7614)Gag>Aag	p.E2538K	MACF1_ENST00000564288.1_Missense_Mutation_p.E2533K|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E2570K|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E973K|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2538					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATTTAGCCGAGAAACTCAA	0.358																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(7597-7599)Gag>Aag		microtubule-actin crosslinking factor 1		G	,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	64.0	67.0	66.0		,2917	1.7	1.0	1		66	0,8600		0,0,4300	no	intron,missense	MACF1	NM_012090.4,NM_033044.3	,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,973/5939	39799857	1,13005	2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799857G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7612G>A	1.37:g.39799857G>A	ENSP00000362006:p.Glu2538Lys					MACF1_ENST00000372915.3_Missense_Mutation_p.E2538K|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E2570K|MACF1_ENST00000289893.4_Missense_Mutation_p.E973K|MACF1_ENST00000539005.1_Intron	p.E2533K			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	8374	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2538					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.7597G>A		.	.	.	.	.	.	.	.	.	.	G	5.542	0.284854	0.10513	2.27E-4	0.0	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.73152	-0.72;-0.72	5.57	1.72	0.24424	.	0.683951	0.14354	N	0.324913	T	0.35158	0.0922	N	0.02357	-0.585	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33343	-0.9872	10	0.02654	T	1	.	5.3617	0.16091	0.5714:0.1398:0.2888:0.0	.	2538	Q9UPN3	MACF1_HUMAN	K	2538;973	ENSP00000362006:E2538K;ENSP00000289893:E973K	ENSP00000289893:E973K	E	+	1	0	MACF1	39572444	0.006000	0.16342	0.997000	0.53966	0.714000	0.41099	0.166000	0.16583	0.388000	0.25054	-0.340000	0.08031	GAG		0.358	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		115	201	0	0	0	1	0	115	201				
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	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		7	744						7	744	---	---	---	---
SLC6A9	6536	broad.mit.edu	37	1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-	rs201148088		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231.0	218.0	222.0					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		7	1200						7	1200	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T	rs372212671		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CAAAAACAAAACCCTAGATATT	0.421																																						ENST00000505841.1																			0																																																			0							g.chr1:47310359_47310360insT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47310359_47310360insT								NR_002788.2						0	1269	-								Q66ZJ5	RNA	INS	ENST00000505841.1	37																																																																																						0.421	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		9	51						9	51	---	---	---	---
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	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		9	427						9	427	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115537600	115537601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:115537600_115537601insA	ENST00000369522.3	+	32	3131_3132	c.2891_2892insA	c.(2890-2895)agaaaafs	p.RK964fs	SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.RK964fs|SYCP1_ENST00000477590.1_3'UTR	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	964	Arg/Lys-rich (basic).				chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAATGGATAGAAAAAAAAAAC	0.356																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2890-2892)aaafs		synaptonemal complex protein 1																																				SO:0001589	frameshift_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115537600_115537601insA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2901dupA	1.37:g.115537610_115537610dupA	ENSP00000358535:p.Arg964fs					SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs	p.K964fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	32	3131_3132	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	964			Arg/Lys-rich (basic).		O14963|Q5VXJ6	Frame_Shift_Ins	INS	ENST00000369522.3	37	c.2891_2892insA	CCDS879.1																																																																																				0.356	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		21	252						21	252	---	---	---	---
PRRC2C	23215	broad.mit.edu	37	1	171511148	171511149	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:171511148_171511149insA	ENST00000338920.4	+	16	4774_4775	c.4537_4538insA	c.(4537-4539)gaafs	p.E1513fs	PRRC2C_ENST00000367742.3_Frame_Shift_Ins_p.E1515fs|PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.E1515fs|PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.E1513fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1513					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGAGAGGGATGAAAAAAAAAAT	0.391																																						ENST00000367742.3																			0											c.(4543-4545)aaafs		proline-rich coiled-coil 2C																																				SO:0001589	frameshift_variant	23215						protein C-terminus binding	g.chr1:171511148_171511149insA	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4547dupA	1.37:g.171511158_171511158dupA	ENSP00000343629:p.Glu1513fs					PRRC2C_ENST00000338920.4_Frame_Shift_Ins_p.K1513fs|PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.K1515fs|PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.K1513fs	p.K1515fs			Q9Y520	PRC2C_HUMAN			16	4785_4786	+			1513					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Ins	INS	ENST00000338920.4	37	c.4543_4544insA	CCDS1296.2																																																																																				0.391	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		11	231						11	231	---	---	---	---
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	lincRNA	DEL	T	T	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244																																						ENST00000417039.1																			0																																																			0							g.chr2:38710019delT																													2.37:g.38710019delT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.244	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			4	3						4	3	---	---	---	---
AC105399.2	0	broad.mit.edu	37	2	78020197	78020199	+	RNA	DEL	TCC	TCC	-	rs373550616|rs375511226		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr2:78020197_78020199delTCC	ENST00000422418.1	+	0	402_404																											ATACTAAAAATCCTaaaaaaaaa	0.32																																						ENST00000422418.1																			0																																																			0							g.chr2:78020197_78020199delTCC																													2.37:g.78020197_78020199delTCC														0	402_404	+									RNA	DEL	ENST00000422418.1	37																																																																																						0.320	AC105399.2-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000328256.1			7	25						7	25	---	---	---	---
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458648	90458648	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr2:90458648delT	ENST00000603238.1	+	2	324	c.324delT	c.(322-324)tgtfs	p.C108fs																								CTTATTACTGTCAACAGAGTG	0.512																																						ENST00000603238.1																			0											c.(322-324)tgfs																																						SO:0001589	frameshift_variant	0							g.chr2:90458648delT																												ENST00000603238.1:c.324delT	2.37:g.90458648delT	ENSP00000474044:p.Cys108fs						p.108fs							2	324	+									Frame_Shift_Del	DEL	ENST00000603238.1	37	c.324delT																																																																																					0.512	CH17-132F21.1-001	PUTATIVE	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468882.1			8	2864						8	2864	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233712228	233712230	+	In_Frame_Del	DEL	CAG	CAG	-	rs62640389|rs10555297|rs398061180|rs527464858|rs58340018	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr2:233712228_233712230delCAG	ENST00000409547.1	+	29	3942_3944	c.3631_3633delCAG	c.(3631-3633)cagdel	p.Q1216del	GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1216	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q1216delQ(2)|p.Q1237delQ(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagctgccacagcagcagcagc	0.547																																						ENST00000373566.3																			3	Deletion - In frame(3)	p.Q1216delQ(2)|p.Q1237delQ(1)	breast(2)|ovary(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3697-3699)del		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233712228_233712230delCAG	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3631_3633delCAG	2.37:g.233712237_233712239delCAG	ENSP00000386537:p.Gln1216del					GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del	p.Q1238del			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	28	3894_3896	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1216			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.3697_3699delCAG	CCDS33401.1																																																																																				0.547	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		8	196						8	196	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	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		13	306						13	306	---	---	---	---
EMC3-AS1	442075	broad.mit.edu	37	3	10035779	10035783	+	RNA	DEL	AGTCT	AGTCT	-	rs35714562|rs199577504		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr3:10035779_10035783delAGTCT	ENST00000326237.3	+	0	354																											GGGGAAGAGAAGTCTGATCTGACAT	0.38																																						ENST00000326237.3																			0																																																			0							g.chr3:10035779_10035783delAGTCT																													3.37:g.10035779_10035783delAGTCT														0	354	+									RNA	DEL	ENST00000326237.3	37																																																																																						0.380	AC034193.5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339468.1			11	126						11	126	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42680269	42680271	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr3:42680269_42680271delGAG	ENST00000232978.8	+	13	3261_3263	c.3073_3075delGAG	c.(3073-3075)gagdel	p.E1029del	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1029					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATTTGGTGAAGAGGAGGAGGAGG	0.355																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(3073-3075)del		natural killer-tumor recognition sequence																																				SO:0001651	inframe_deletion	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680269_42680271delGAG		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3073_3075delGAG	3.37:g.42680278_42680280delGAG	ENSP00000232978:p.Glu1029del					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.E1029del	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3261_3263	+			1029						In_Frame_Del	DEL	ENST00000232978.8	37	c.3073_3075delGAG	CCDS2702.1																																																																																				0.355	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		8	350						8	350	---	---	---	---
CCKAR	886	broad.mit.edu	37	4	26483672	26483674	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:26483672_26483674delCTG	ENST00000295589.3	-	5	1067_1069	c.873_875delCAG	c.(871-876)agcagg>agg	p.S291del		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	291					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GCGGTTGGCCCTGCTGCTGCTGC	0.606																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(871-876)agg>ag		cholecystokinin A receptor	Ceruletide(DB00403)																																			SO:0001651	inframe_deletion	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483672_26483674delCTG	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.873_875delCAG	4.37:g.26483681_26483683delCTG	ENSP00000295589:p.Ser291del						p.SR291del	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1067_1069	-		Breast(46;0.0503)	291					B2R9Z5	In_Frame_Del	DEL	ENST00000295589.3	37	c.873_875delCAG	CCDS3438.1																																																																																				0.606	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			8	776						8	776	---	---	---	---
UBE2K	3093	broad.mit.edu	37	4	39779392	39779392	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:39779392delA	ENST00000261427.5	+	6	774	c.490delA	c.(490-492)aaafs	p.K165fs	UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000295963.6_Frame_Shift_Del_p.K104fs|UBE2K_ENST00000503368.1_Frame_Shift_Del_p.K114fs|UBE2K_ENST00000445950.2_Intron	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	165	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						AGAATACACCAAAAAAATAGA	0.363																																					NSCLC(101;689 1592 16105 29682 31745)	ENST00000261427.5																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(490-492)aafs		ubiquitin-conjugating enzyme E2K							100.0	106.0	104.0					4																	39779392		2203	4300	6503	SO:0001589	frameshift_variant	3093				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity	g.chr4:39779392delA	U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"""Ubiquitin-conjugating enzymes E2"""	4914	protein-coding gene	gene with protein product		602846	"""huntingtin interacting protein 2"", ""ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"""	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.490delA	4.37:g.39779392delA	ENSP00000261427:p.Lys165fs					UBE2K_ENST00000295963.6_Frame_Shift_Del_p.K104fs|UBE2K_ENST00000503368.1_Frame_Shift_Del_p.K114fs|UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000445950.2_Intron	p.K165fs	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN			6	774	+			165			UBA.		A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Frame_Shift_Del	DEL	ENST00000261427.5	37	c.490delA	CCDS33976.1																																																																																				0.363	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361061.1	NM_005339		8	951						8	951	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	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)	TGCTCAGGTCAAAAAAAATTG	0.294																																						ENST00000295452.4																			1	Deletion - Frameshift(1)	p.F264fs*3(1)	large_intestine(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(790-792)ttfs		gamma-aminobutyric acid (GABA) A receptor, gamma 1							94.0	97.0	96.0					4																	46060358		2203	4300	6503	SO:0001589	frameshift_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060358delA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.792delT	4.37:g.46060358delA	ENSP00000295452:p.Phe264fs						p.F264fs	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	959	-			264					Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	c.792delT	CCDS3470.1																																																																																				0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		13	439						13	439	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		10	344						10	344	---	---	---	---
C4orf22	255119	broad.mit.edu	37	4	81791254	81791254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:81791254delA	ENST00000358105.3	+	4	490	c.441delA	c.(439-441)ggafs	p.G147fs	C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACTTTACTGGAAAAAAAAGAC	0.373																																						ENST00000358105.3																			0				NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(439-441)ggfs		chromosome 4 open reading frame 22																																				SO:0001589	frameshift_variant	255119							g.chr4:81791254delA	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.441delA	4.37:g.81791254delA	ENSP00000350818:p.Gly147fs					C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	p.G147fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			4	490	+			147					E7EQ13|Q6ZQY4|Q8N4G9	Frame_Shift_Del	DEL	ENST00000358105.3	37	c.441delA	CCDS3587.1																																																																																				0.373	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		10	732						10	732	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85611708	85611709	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	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		7	481						7	481	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-	rs372401787		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626																																						ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(472-477)gct>g		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618431_89618433delCCT	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.473_475delAGG	4.37:g.89618440_89618442delCCT	ENSP00000320488:p.Glu158del					HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron	p.EA158del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	953_955	-			158			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.473_475delAGG	CCDS3632.1																																																																																				0.626	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		8	772						8	772	---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-	rs368167746		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		8	495						8	495	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:123302211delA	ENST00000296513.2	+	4	422	c.237delA	c.(235-237)ccafs	p.P79fs	ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR|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_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs	p.P79fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			4	422	+			79					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Frame_Shift_Del	DEL	ENST00000296513.2	37	c.237delA	CCDS34058.1																																																																																				0.358	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		9	613						9	613	---	---	---	---
LARP1B	55132	broad.mit.edu	37	4	129127627	129127627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:129127627delA	ENST00000326639.6	+	18	2565	c.2354delA	c.(2353-2355)gaafs	p.E785fs	LARP1B_ENST00000264584.5_Frame_Shift_Del_p.E726fs|LARP1B_ENST00000354456.3_Frame_Shift_Del_p.E204fs|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_Intron	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	785						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TATGGACTGGAAAAAAAATTC	0.289																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(2353-2355)gafs		La ribonucleoprotein domain family, member 1B				7,4249		0,7,2121	55.0	63.0	60.0			4.9	1.0	4		61	6,8236		0,6,4115	no	frameshift	LARP1B	NM_018078.2		0,13,6236	A1A1,A1R,RR		0.0728,0.1645,0.104			129127627	13,12485	2198	4297	6495	SO:0001589	frameshift_variant	55132						RNA binding	g.chr4:129127627delA		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2354delA	4.37:g.129127627delA	ENSP00000321997:p.Glu785fs					LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Frame_Shift_Del_p.E204fs|LARP1B_ENST00000441387.1_Intron|LARP1B_ENST00000264584.5_Frame_Shift_Del_p.E726fs	p.E785fs	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			18	2565	+			785					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Frame_Shift_Del	DEL	ENST00000326639.6	37	c.2354delA	CCDS3738.1																																																																																				0.289	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		11	753						11	753	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.340	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		12	620						12	620	---	---	---	---
VEGFC	7424	broad.mit.edu	37	4	177608415	177608415	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:177608415delT	ENST00000280193.2	-	6	1486	c.1071delA	c.(1069-1071)aaafs	p.K357fs	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA|VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	357	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CACAGGCACATTTTCCAGGAT	0.428																																						ENST00000280193.2																			0				biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41						c.(1069-1071)aafs		vascular endothelial growth factor C							254.0	229.0	237.0					4																	177608415		1849	4096	5945	SO:0001589	frameshift_variant	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177608415delT	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1071delA	4.37:g.177608415delT	ENSP00000280193:p.Lys357fs					RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	p.K357fs	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	6	1486	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	357			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.		B2R9Q8	Frame_Shift_Del	DEL	ENST00000280193.2	37	c.1071delA	CCDS43285.1																																																																																				0.428	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		7	1680						7	1680	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	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		9	940						9	940	---	---	---	---
TRIM23	373	broad.mit.edu	37	5	64910015	64910016	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:64910015_64910016insT	ENST00000231524.9	-	3	646_647	c.275_276insA	c.(274-276)aatfs	p.N92fs	TRIM23_ENST00000274327.7_Frame_Shift_Ins_p.N92fs|TRIM23_ENST00000381018.3_Frame_Shift_Ins_p.N92fs	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	92					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N92I(1)|p.N92K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATAAAGCAAAATTTTTTTTCAA	0.356																																						ENST00000231524.9																			2	Substitution - Missense(2)	p.N92I(1)|p.N92K(1)	large_intestine(2)	breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(274-276)attfs		tripartite motif containing 23																																				SO:0001589	frameshift_variant	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64910015_64910016insT	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.276dupA	5.37:g.64910023_64910023dupT	ENSP00000231524:p.Asn92fs					TRIM23_ENST00000381018.3_Frame_Shift_Ins_p.I92fs|TRIM23_ENST00000274327.7_Frame_Shift_Ins_p.I92fs	p.I92fs	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	3	646_647	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	92					Q9BZY4|Q9BZY5	Frame_Shift_Ins	INS	ENST00000231524.9	37	c.275_276insA	CCDS3987.1																																																																																				0.356	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		7	596						7	596	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	79970915	79970915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:79970915delA	ENST00000265081.6	+	7	1221	c.1141delA	c.(1141-1143)aaafs	p.K383fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	383					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGTTAGGGACAAAAAAAAGGG	0.348								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1141-1143)aafs	Mismatch excision repair (MMR)	mutS homolog 3							142.0	146.0	144.0					5																	79970915		2203	4300	6503	SO:0001589	frameshift_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79970915delA	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1141delA	5.37:g.79970915delA	ENSP00000265081:p.Lys383fs						p.K383fs	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	7	1221	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	383					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Del	DEL	ENST00000265081.6	37	c.1141delA	CCDS34195.1																																																																																				0.348	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		7	740						7	740	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80409566	80409568	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:80409566_80409568delCCA	ENST00000265080.4	+	15	2364_2366	c.2297_2299delCCA	c.(2296-2301)cccacc>ccc	p.T770del	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	770					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCCAGCAGTCCCACCACCACCAC	0.562																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2296-2301)ccc>c		Ras protein-specific guanine nucleotide-releasing factor 2																																				SO:0001651	inframe_deletion	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80409566_80409568delCCA	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2297_2299delCCA	5.37:g.80409575_80409577delCCA	ENSP00000265080:p.Thr770del					CTD-2193P3.2_ENST00000508993.1_RNA	p.PT766del	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	15	2364_2366	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	766					B9EG89|Q9UK56	In_Frame_Del	DEL	ENST00000265080.4	37	c.2297_2299delCCA	CCDS4052.1																																																																																				0.562	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		7	439						7	439	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	ATCCTCACCCTTTTTTTCCCT	0.418																																						ENST00000200652.3																			1	Insertion - Frameshift(1)	p.E509fs*1(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1513-1515)ctfs		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						222.0	206.0	211.0					5																	131676327		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676327delT	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1514delT	5.37:g.131676327delT	ENSP00000200652:p.Leu505fs					AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	p.L505fs	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1688	+		all_cancers(142;0.0752)|Breast(839;0.198)	505					O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1514delT	CCDS4153.1																																																																																				0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		9	1020						9	1020	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137754813	137754814	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:137754813_137754814delAG	ENST00000314358.5	+	14	3807_3808	c.3607_3608delAG	c.(3607-3609)agtfs	p.S1203fs	KDM3B_ENST00000394866.1_Frame_Shift_Del_p.S859fs|KDM3B_ENST00000542866.1_Frame_Shift_Del_p.S235fs|KDM3B_ENST00000508386.1_3'UTR	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1203					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAATAGCAATAGTGAACTGAAA	0.52																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(3607-3609)tfs		lysine (K)-specific demethylase 3B																																				SO:0001589	frameshift_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137754813_137754814delAG	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3607_3608delAG	5.37:g.137754813_137754814delAG	ENSP00000326563:p.Ser1203fs					KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Frame_Shift_Del_p.S859fs|KDM3B_ENST00000542866.1_Frame_Shift_Del_p.S235fs	p.S1203fs	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			14	3807_3808	+			1203					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Del	DEL	ENST00000314358.5	37	c.3607_3608delAG	CCDS34242.1																																																																																				0.520	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		91	216						91	216	---	---	---	---
PCDHGB7	56099	broad.mit.edu	37	5	140799824	140799826	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:140799824_140799826delAAG	ENST00000398594.2	+	1	2398_2400	c.2398_2400delAAG	c.(2398-2400)aagdel	p.K801del	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	801					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGCAGATAAGAAGATTCTTA	0.305																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(2398-2400)del																																						SO:0001651	inframe_deletion	0							g.chr5:140799824_140799826delAAG	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.2398_2400delAAG	5.37:g.140799827_140799829delAAG	ENSP00000381594:p.Lys801del					PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	p.K801del	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2398_2400	+								Q9UN63	In_Frame_Del	DEL	ENST00000398594.2	37	c.2398_2400delAAG	CCDS47293.1																																																																																				0.305	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		167	160						167	160	---	---	---	---
RNF145	153830	broad.mit.edu	37	5	158630629	158630630	+	5'UTR	INS	-	-	T	rs76451527		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:158630629_158630630insT	ENST00000424310.2	-	0	355_356				RNF145_ENST00000520638.1_Frame_Shift_Ins_p.N13fs|RNF145_ENST00000274542.2_Frame_Shift_Ins_p.N27fs|RNF145_ENST00000521606.2_Frame_Shift_Ins_p.N16fs|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000518802.1_Frame_Shift_Ins_p.N29fs	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.N27K(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCCATGTTGttttttttttt	0.376																																						ENST00000274542.2																			1	Substitution - Missense(1)	p.N27K(1)	upper_aerodigestive_tract(1)	endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(79-81)aaafs		ring finger protein 145																																				SO:0001623	5_prime_UTR_variant	153830					integral to membrane	zinc ion binding	g.chr5:158630629_158630630insT	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-5->A	5.37:g.158630640_158630640dupT						RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000424310.2_5'UTR|RNF145_ENST00000520638.1_Frame_Shift_Ins_p.K13fs|RNF145_ENST00000518802.1_Frame_Shift_Ins_p.K29fs|RNF145_ENST00000521606.2_Frame_Shift_Ins_p.K16fs	p.K27fs	NM_144726.2	NP_653327.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	106_107	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	0					B7Z903|B7Z949|E7EVI7|Q8IVP7	Frame_Shift_Ins	INS	ENST00000424310.2	37	c.80_81insA	CCDS56390.1																																																																																				0.376	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		8	323						8	323	---	---	---	---
GRK6	2870	broad.mit.edu	37	5	176863219	176863221	+	In_Frame_Del	DEL	GAA	GAA	-	rs76969408		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:176863219_176863221delGAA	ENST00000355472.5	+	12	1371_1373	c.1203_1205delGAA	c.(1201-1206)gtgaag>gtg	p.K402del	GRK6_ENST00000507633.1_In_Frame_Del_p.K402del|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000393576.3_In_Frame_Del_p.K368del|GRK6_ENST00000355958.5_In_Frame_Del_p.K402del|GRK6_ENST00000528793.1_In_Frame_Del_p.K402del	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	402	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)	p.K402delK(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGCTGGTGAAGGAGGTCCCC	0.645																																						ENST00000355472.5																			1	Deletion - In frame(1)	p.K402delK(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(1201-1206)gtg>gt		G protein-coupled receptor kinase 6																																				SO:0001651	inframe_deletion	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176863219_176863221delGAA		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1203_1205delGAA	5.37:g.176863219_176863221delGAA	ENSP00000347655:p.Lys402del					GRK6_ENST00000507633.1_In_Frame_Del_p.VK401del|GRK6_ENST00000355958.5_In_Frame_Del_p.VK401del|GRK6_ENST00000528793.1_In_Frame_Del_p.VK401del|GRK6_ENST00000393576.3_In_Frame_Del_p.VK367del	p.VK401del	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1371_1373	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	401			Protein kinase.		O60541|Q13652	In_Frame_Del	DEL	ENST00000355472.5	37	c.1203_1205delGAA	CCDS34303.1																																																																																				0.645	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		8	455						8	455	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGCCAGCCTCCCTCCTCCTCCTC	0.586																																						ENST00000466808.2																			0																	383,304,2,3575		10,8,0,355,12,0,272,0,2,1473						0.4	0.0		dbSNP_134	150	684,576,1,6991		22,7,0,633,28,0,513,0,1,2922	no	intergenic				32,15,0,988,40,0,785,0,3,4395	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		15.2811,16.1585,15.5801				1067,880,3,10566						0							g.chr6:26422388_26422390delCCT	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.26422397_26422399delCCT														0	42_44	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.586	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		10	466						10	466	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32522756	32522756	+	RNA	DEL	A	A	-	rs141838432		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:32522756delA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		GGACTAGGAGAAAAAAAGGTA	0.517																																						ENST00000411500.1																			0																																																			0							g.chr6:32522756delA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522756delA								NR_001298.1						0	458	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.517	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		8	122						8	122	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84896233	84896233	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:84896233delA	ENST00000403245.3	-	12	1332	c.1218delT	c.(1216-1218)tttfs	p.F406fs	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTTTTGTCAAAAAAAAGGT	0.358																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1216-1218)ttfs		KIAA1009							141.0	150.0	147.0					6																	84896233		2202	4300	6502	SO:0001589	frameshift_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84896233delA																												ENST00000403245.3:c.1218delT	6.37:g.84896233delA	ENSP00000385215:p.Phe406fs					KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs	p.F406fs	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	12	1332	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	406						Frame_Shift_Del	DEL	ENST00000403245.3	37	c.1218delT	CCDS34494.2																																																																																				0.358	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			7	511						7	511	---	---	---	---
RNGTT	8732	broad.mit.edu	37	6	89638988	89638988	+	Splice_Site	DEL	T	T	-	rs79488860		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:89638988delT	ENST00000369485.4	-	3	361		c.e3-2		RNGTT_ENST00000538899.1_Splice_Site|RNGTT_ENST00000265607.6_Splice_Site|RNGTT_ENST00000369475.3_Splice_Site	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase						7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CATTTTAACCTAAAAAAAAAA	0.299																																						ENST00000369485.4																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.e3-2		RNA guanylyltransferase and 5'-phosphatase							23.0	25.0	24.0					6																	89638988		2165	4252	6417	SO:0001630	splice_region_variant	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89638988delT	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.175-2A>-	6.37:g.89638988delT						RNGTT_ENST00000538899.1_Splice_Site|RNGTT_ENST00000265607.6_Splice_Site|RNGTT_ENST00000369475.3_Splice_Site		NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	3	361	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)						E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Splice_Site	DEL	ENST00000369485.4	37		CCDS5017.1																																																																																				0.299	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1		Intron	8	339						8	339	---	---	---	---
GABRR2	2570	broad.mit.edu	37	6	89975427	89975429	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	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			9	265						9	265	---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144081695	144081696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:144081695_144081696insA	ENST00000427704.2	+	5	709_710	c.579_580insA	c.(580-582)aaafs	p.K194fs	PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.K205fs|PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000305766.6_Intron	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	194							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGCCTCCCATTAAAAAAAATAC	0.569																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(577-582)ataaaafs		phosphatase and actin regulator 2																																				SO:0001589	frameshift_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144081695_144081696insA	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.587dupA	6.37:g.144081703_144081703dupA	ENSP00000391763:p.Lys194fs					PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.IK204fs|PHACTR2_ENST00000305766.6_Intron	p.IK193fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	5	709_710	+			193					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Ins	INS	ENST00000427704.2	37	c.579_580insA	CCDS47492.1																																																																																				0.569	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		7	325						7	325	---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135317	27135319	+	In_Frame_Del	DEL	TGG	TGG	-	rs2074398|rs587777901|rs544314279	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:27135317_27135319delTGG	ENST00000343060.4	-	1	274_276	c.213_215delCCA	c.(211-216)caccat>cat	p.71_72HH>H	HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.71_72HH>H|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	71	Poly-His.				abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ggggtggcgatggtggtggtggt	0.64											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(211-216)cat>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135317_27135319delTGG		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.213_215delCCA	7.37:g.27135326_27135328delTGG	ENSP00000343246:p.His72del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HH71del	p.HH71del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	274_276	-			71			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.213_215delCCA	CCDS5401.1																																																																																				0.640	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			7	357						7	357	---	---	---	---
PPP1R17	10842	broad.mit.edu	37	7	31735179	31735179	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:31735179delA	ENST00000342032.3	+	3	807	c.179delA	c.(178-180)caafs	p.Q60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	60					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GAGTCAGACCAAAAAAAACCA	0.438																																						ENST00000342032.3																			0											c.(178-180)cafs		protein phosphatase 1, regulatory subunit 17			,	4,0,4260		0,0,4,0,0,2128	142.0	138.0	140.0		,	3.6	0.8	7		141	1,3,8250		0,0,1,0,3,4123	no	codingComplex,intron	C7orf16	NM_006658.4,NM_001145123.2	,	0,0,5,0,3,6251	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,0.0938,0.0639	,	,	31735179	5,3,12510	2203	4300	6503	SO:0001589	frameshift_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31735179delA	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.179delA	7.37:g.31735179delA	ENSP00000340125:p.Gln60fs					PPP1R17_ENST00000409146.3_Intron	p.Q60fs	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			3	807	+			60					B4DE58|Q9UDQ0	Frame_Shift_Del	DEL	ENST00000342032.3	37	c.179delA	CCDS5436.1																																																																																				0.438	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		9	1096						9	1096	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		12	851						12	851	---	---	---	---
INHBA	3624	broad.mit.edu	37	7	41729741	41729743	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:41729741_41729743delTTC	ENST00000242208.4	-	3	1032_1034	c.786_788delGAA	c.(784-789)aagaaa>aaa	p.262_263KK>K	INHBA_ENST00000442711.1_In_Frame_Del_p.262_263KK>K|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	262					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ctcctcttctttcttcttcttct	0.581										TSP Lung(11;0.080)																												ENST00000242208.4																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(784-789)aaa>aa		inhibin, beta A																																				SO:0001651	inframe_deletion	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729741_41729743delTTC		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.786_788delGAA	7.37:g.41729750_41729752delTTC	ENSP00000242208:p.Lys263del	TSP Lung(11;0.080)				AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del	p.KK262del	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			3	1032_1034	-			262					Q14599	In_Frame_Del	DEL	ENST00000242208.4	37	c.786_788delGAA	CCDS5464.1																																																																																				0.581	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			10	285						10	285	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			7	93						7	93	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166|rs12531701	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:66767610_66767611insG	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		CACCGGACTGCTTTTTTTTTTT	0.545																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66767610_66767611insG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767610_66767611insG								NR_040586.1		Q8TBR4	STG34_HUMAN			0	3_4	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	INS	ENST00000414507.1	37																																																																																						0.545	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		7	14						7	14	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72683455	72683456	+	RNA	INS	-	-	T	rs556745507	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:72683455_72683456insT	ENST00000425256.1	-	0	120									GTF2I repeat domain containing 2 pseudogene 1																		CGTTCTACCAgtttttttttgt	0.441													|||unknown(NO_COVERAGE)	44	0.00878594	0.0325	0.0014	5008	,	,		20043	0.0		0.0	False		,,,				2504	0.0					ENST00000425256.1																			0																																																			0							g.chr7:72683455_72683456insT	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.72683464_72683464dupT								NR_002164.1						0	120	-									RNA	INS	ENST00000425256.1	37																																																																																						0.441	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		8	566						8	566	---	---	---	---
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:73123425_73123427delCAT	ENST00000222812.3	-	2	82_84	c.56_58delATG	c.(55-60)gatgtc>gtc	p.D19del	STX1A_ENST00000395156.3_In_Frame_Del_p.D19del|STX1A_ENST00000395154.3_In_Frame_Del_p.D19del|STX1A_ENST00000395155.3_In_Frame_Del_p.D19del|MIR4284_ENST00000578924.1_RNA	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	19					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGACAGCGACATCATCATCATC	0.586																																						ENST00000222812.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(55-60)gtc>g		syntaxin 1A (brain)																																				SO:0001651	inframe_deletion	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73123425_73123427delCAT		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.56_58delATG	7.37:g.73123434_73123436delCAT	ENSP00000222812:p.Asp19del					STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del	p.DV19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN			2	82_84	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	19					O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	In_Frame_Del	DEL	ENST00000222812.3	37	c.56_58delATG	CCDS34655.1																																																																																				0.586	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		8	850						8	850	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:91671392_91671393delAG	ENST00000359028.2	+	20	5211_5212	c.4986_4987delAG	c.(4984-4989)tcagagfs	p.E1663fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E1651fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E1663fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1663					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4984-4989)tcagfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91671392_91671393delAG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4986_4987delAG	7.37:g.91671402_91671403delAG	ENSP00000351922:p.Glu1663fs					AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs	p.SE1662fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	5211_5212	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1662					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.4986_4987delAG																																																																																					0.411	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		8	443						8	443	---	---	---	---
GPC2	221914	broad.mit.edu	37	7	99771554	99771554	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:99771554delC	ENST00000292377.2	-	5	963	c.796delG	c.(796-798)gtcfs	p.V266fs	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	266					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGAGGGGACCCCCCGGCAC	0.642																																						ENST00000292377.2																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18						c.(796-798)tcfs		glypican 2							84.0	94.0	90.0					7																	99771554		2203	4300	6503	SO:0001589	frameshift_variant	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99771554delC	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.796delG	7.37:g.99771554delC	ENSP00000292377:p.Val266fs					GPC2_ENST00000471050.1_5'UTR	p.V266fs	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN			5	963	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		266					A4D2A7	Frame_Shift_Del	DEL	ENST00000292377.2	37	c.796delG	CCDS5689.1																																																																																				0.642	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		7	1363						7	1363	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-	rs71555278		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	399					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGAGGCCGCCACCACCACCAC	0.581																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1180-1185)cgc>cg		methylphosphate capping enzyme																																				SO:0001651	inframe_deletion	56257						methyltransferase activity	g.chr7:100028823_100028825delCCA	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1182_1184delCCA	7.37:g.100028832_100028834delCCA	ENSP00000308546:p.His399del					MEPCE_ENST00000414441.1_5'UTR	p.RH394del	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1570_1572	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		394					B3KP86|D6W5V7|Q9NPD4	In_Frame_Del	DEL	ENST00000310512.2	37	c.1182_1184delCCA	CCDS5693.1																																																																																				0.581	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			7	455						7	455	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	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		11	384						11	384	---	---	---	---
WASL	8976	broad.mit.edu	37	7	123332839	123332841	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:123332839_123332841delAGG	ENST00000223023.4	-	9	1239_1241	c.907_909delCCT	c.(907-909)cctdel	p.P303del		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	303	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.P303A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCCCTagcaggaggaggagga	0.616																																						ENST00000223023.4																			1	Substitution - Missense(1)	p.P303A(1)	kidney(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(907-909)del		Wiskott-Aldrich syndrome-like																																				SO:0001651	inframe_deletion	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332839_123332841delAGG	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.907_909delCCT	7.37:g.123332848_123332850delAGG	ENSP00000223023:p.Pro303del						p.P303del	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			9	1239_1241	-			303			Pro-rich.		A1JUI9|Q7Z746	In_Frame_Del	DEL	ENST00000223023.4	37	c.907_909delCCT	CCDS34743.1																																																																																				0.616	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		7	439						7	439	---	---	---	---
OR9A4	130075	broad.mit.edu	37	7	141619203	141619203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:141619203delT	ENST00000548136.1	+	1	587	c.528delT	c.(526-528)aatfs	p.N176fs	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGGTGAACAATTTTTTTTGTG	0.383																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(526-528)aafs		olfactory receptor, family 9, subfamily A, member 4							152.0	152.0	152.0					7																	141619203		2056	4243	6299	SO:0001589	frameshift_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619203delT		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.528delT	7.37:g.141619203delT	ENSP00000448789:p.Asn176fs					MGAM_ENST00000497554.1_Intron	p.N176fs	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	587	+	Melanoma(164;0.0171)		176					B9EGV6|Q6IFI4	Frame_Shift_Del	DEL	ENST00000548136.1	37	c.528delT	CCDS43661.1																																																																																				0.383	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		8	1354						8	1354	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		15	40						15	40	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C	rs372758218|rs376236342		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TCCCAAGGTGGGGGGCTGAGGA	0.564																																						ENST00000603901.1																			0																																																			0							g.chr7:142481996_142481997insC			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481996_142481997insC								NR_001296.3						0	591	+									RNA	INS	ENST00000603901.1	37																																																																																						0.564	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		15	94						15	94	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:142562309delG	ENST00000392957.2	+	7	1538	c.751delG	c.(751-753)gggfs	p.G252fs	EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(751-753)ggfs		EPH receptor B6				18,4178		1,16,2081	46.0	59.0	55.0			-4.1	1.0	7		55	39,8155		7,25,4065	no	frameshift	EPHB6	NM_004445.3		8,41,6146	A1A1,A1R,RR		0.476,0.429,0.46			142562309	57,12333	2188	4279	6467	SO:0001589	frameshift_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562309delG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.751delG	7.37:g.142562309delG	ENSP00000376684:p.Gly252fs					EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs	p.G252fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1538	+	Melanoma(164;0.059)		252			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Del	DEL	ENST00000392957.2	37	c.751delG	CCDS5873.2																																																																																				0.682	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			7	978						7	978	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	745	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2233-2235)del		deleted in liver cancer 1																																				SO:0001651	inframe_deletion	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957611_12957613delGCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2233_2235delAGC	8.37:g.12957620_12957622delGCT	ENSP00000276297:p.Ser745del					DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del	p.S745del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2642_2644	-			745			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	In_Frame_Del	DEL	ENST00000276297.4	37	c.2233_2235delAGC	CCDS5989.1																																																																																				0.621	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	217						8	217	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22020159	22020161	+	5'Flank	DEL	GTG	GTG	-	rs183533911	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr8:22020159_22020161delGTG	ENST00000306385.5	+	0	0				SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000521315.1_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|BMP1_ENST00000354870.5_5'Flank|BMP1_ENST00000306349.8_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTTCTTATCGTGGTGGTGGTGG	0.601																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(115-117)del		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020159_22020161delGTG		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020168_22020170delGTG	Exception_encountered					SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron	p.V44del			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	147_149	+			44					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	In_Frame_Del	DEL	ENST00000306385.5	37	c.115_117delGTG	CCDS6026.1																																																																																				0.601	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		8	444						8	444	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-	rs139076845		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				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)										GGCTTTCCGGCTCCTCCTCCTCC	0.567																																						ENST00000396930.3																			0											c.(2977-2979)del		K(lysine) acetyltransferase 6A																																				SO:0001651	inframe_deletion	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.chr8:41798420_41798422delCTC	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.2977_2979delGAG	8.37:g.41798429_41798431delCTC	ENSP00000380136:p.Glu993del					KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3520_3522	-			993			Poly-Glu.		Q76L81	In_Frame_Del	DEL	ENST00000396930.3	37	c.2977_2979delGAG	CCDS6124.1																																																																																				0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	605						7	605	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633584	32633584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	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			13	856						13	856	---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34257623	34257623	+	Frame_Shift_Del	DEL	T	T	-	rs570788521	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:34257623delT	ENST00000402558.2	-	10	2006	c.1982delA	c.(1981-1983)aagfs	p.K661fs	KIF24_ENST00000345050.2_Frame_Shift_Del_p.K527fs|KIF24_ENST00000379174.3_Frame_Shift_Del_p.K527fs|KIF24_ENST00000379166.2_Frame_Shift_Del_p.K661fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	661					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K143fs*34(1)|p.K661fs*34(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTCTTCTGGCTTTTTTTTGGC	0.527													TTTTTTTT|TTTTTTTT|TTTTTTT|deletion	3	0.000599042	0.0	0.0043	5008	,	,		23710	0.0		0.0	False		,,,				2504	0.0					ENST00000379166.2																			2	Deletion - Frameshift(2)	p.K143fs*34(1)|p.K661fs*34(1)	large_intestine(2)	breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1981-1983)agfs		kinesin family member 24							65.0	65.0	65.0					9																	34257623		2203	4300	6503	SO:0001589	frameshift_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257623delT	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1982delA	9.37:g.34257623delT	ENSP00000384433:p.Lys661fs					KIF24_ENST00000379174.3_Frame_Shift_Del_p.K527fs|KIF24_ENST00000402558.2_Frame_Shift_Del_p.K661fs|KIF24_ENST00000345050.2_Frame_Shift_Del_p.K527fs	p.K661fs	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2101	-			661					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Del	DEL	ENST00000402558.2	37	c.1982delA	CCDS6551.2																																																																																				0.527	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			11	525						11	525	---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35560102	35560104	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:35560102_35560104delGCT	ENST00000455600.1	+	10	4034_4036	c.3465_3467delGCT	c.(3463-3468)gagctg>gag	p.L1160del	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1160	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTTGAAGAGCTGCTGCTGCTG	0.616																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3463-3468)gag>ga		RUN and SH3 domain containing 2																																				SO:0001651	inframe_deletion	9853					cytosol		g.chr9:35560102_35560104delGCT	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3465_3467delGCT	9.37:g.35560111_35560113delGCT	ENSP00000393922:p.Leu1160del						p.EL1155del	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4034_4036	+			1155			RUN.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	In_Frame_Del	DEL	ENST00000455600.1	37	c.3465_3467delGCT	CCDS35008.1																																																																																				0.616	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		7	1124						7	1124	---	---	---	---
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	CTG	-	rs370606246		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:35906348_35906350delCTG	ENST00000354323.2	+	1	160_162	c.64_66delCTG	c.(64-66)ctgdel	p.L28del		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	28						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.67																																						ENST00000354323.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(64-66)del		histidine rich carboxyl terminus 1				367,3839		38,291,1774						-8.3	0.0			23	737,7385		88,561,3412	no	coding	HRCT1	NM_001039792.1		126,852,5186	A1A1,A1R,RR		9.0741,8.7256,8.9552				1104,11224				SO:0001651	inframe_deletion	646962					integral to membrane		g.chr9:35906348_35906350delCTG		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.64_66delCTG	9.37:g.35906357_35906359delCTG	ENSP00000346283:p.Leu28del						p.L28del	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	160_162	+			28					B7ZBJ1	In_Frame_Del	DEL	ENST00000354323.2	37	c.64_66delCTG	CCDS35012.1																																																																																				0.670	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		13	149						13	149	---	---	---	---
ZCCHC7	84186	broad.mit.edu	37	9	37357249	37357250	+	Frame_Shift_Ins	INS	-	-	A	rs1051465		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:37357249_37357250insA	ENST00000336755.5	+	9	1722_1723	c.1616_1617insA	c.(1615-1620)agaaaafs	p.RK539fs	ZCCHC7_ENST00000534928.1_Frame_Shift_Ins_p.RK249fs|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	539			R -> K (in dbSNP:rs1051465).			cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		ATTAAGCAGAGAAAAAAAAAGT	0.411																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(1615-1617)aaafs		zinc finger, CCHC domain containing 7																																				SO:0001589	frameshift_variant	84186						nucleic acid binding|zinc ion binding	g.chr9:37357249_37357250insA	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.1625dupA	9.37:g.37357258_37357258dupA	ENSP00000337839:p.Arg539fs					ZCCHC7_ENST00000534928.1_Frame_Shift_Ins_p.K249fs|ZCCHC7_ENST00000461038.1_3'UTR	p.K539fs	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	9	1722_1723	+			539		R -> K (in dbSNP:rs1051465).			B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Frame_Shift_Ins	INS	ENST00000336755.5	37	c.1616_1617insA	CCDS6608.2																																																																																				0.411	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		11	345						11	345	---	---	---	---
FAM74A7	100996582	broad.mit.edu	37	9	40715923	40715924	+	lincRNA	DEL	AA	AA	-	rs374953827|rs62565543	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:40715923_40715924delAA	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA																							GAAGACGTGGAAAGAGCTCAGA	0.569																																						ENST00000604146.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10																																														0							g.chr9:40715923_40715924delAA																													9.37:g.40715923_40715924delAA								NR_026801.1					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	0	262_263	+									RNA	DEL	ENST00000432614.1	37																																																																																						0.569	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			13	147						13	147	---	---	---	---
ANKRD20A1	84210	broad.mit.edu	37	9	67934791	67934794	+	Frame_Shift_Del	DEL	AAAG	AAAG	-	rs375030402|rs550666541	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:67934791_67934794delAAAG	ENST00000377477.2	+	4	673_676	c.561_564delAAAG	c.(559-564)aaaaagfs	p.KK187fs	RNU6-368P_ENST00000391117.1_RNA	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	187						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						TTTTATTGAAAAAGAAAGCAAGTT	0.309														73	0.0145767	0.0	0.0086	5008	,	,		20736	0.003		0.0239	False		,,,				2504	0.0409					ENST00000377477.2																			0				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						c.(559-564)aafs		ankyrin repeat domain 20 family, member A1																																				SO:0001589	frameshift_variant	84210							g.chr9:67934791_67934794delAAAG	AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.561_564delAAAG	9.37:g.67934795_67934798delAAAG	ENSP00000366697:p.Lys187fs						p.KK187fs	NM_032250.3	NP_115626.2					4	673_676	+								Q9H0H6	Frame_Shift_Del	DEL	ENST00000377477.2	37	c.561_564delAAAG	CCDS6620.1																																																																																				0.309	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			9	34						9	34	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:94486026_94486028delTCC	ENST00000375708.3	-	9	2946_2948	c.2748_2750delGGA	c.(2746-2751)gaggaa>gaa	p.916_917EE>E	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2746-2751)gaa>ga		receptor tyrosine kinase-like orphan receptor 2																																				SO:0001651	inframe_deletion	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486026_94486028delTCC	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2748_2750delGGA	9.37:g.94486035_94486037delTCC	ENSP00000364860:p.Glu917del					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	p.EE916del	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2946_2948	-			916					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	In_Frame_Del	DEL	ENST00000375708.3	37	c.2748_2750delGGA	CCDS6691.1																																																																																				0.645	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			10	787						10	787	---	---	---	---
XPA	7507	broad.mit.edu	37	9	100455962	100455964	+	In_Frame_Del	DEL	TTC	TTC	-	rs3176652		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:100455962_100455964delTTC	ENST00000375128.4	-	2	314_316	c.250_252delGAA	c.(250-252)gaadel	p.E84del		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	84	Interaction with CEP164 and required for UV resistance.|Poly-Glu.				DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)	p.E84*(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CAATTTTCTGTTCTTCTTCTTCT	0.34			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000375128.4			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group A"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Substitution - Nonsense(1)	p.E84*(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11						c.(250-252)del	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group A				171,4093		81,9,2042						3.6	0.0		dbSNP_105	102	360,7892		176,8,3942	no	coding	XPA	NM_000380.3		257,17,5984	A1A1,A1R,RR		4.3626,4.0103,4.2426				531,11985				SO:0001651	inframe_deletion	7507	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100455962_100455964delTTC	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.250_252delGAA	9.37:g.100455971_100455973delTTC	ENSP00000364270:p.Glu84del						p.E84del	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN			2	314_316	-		Acute lymphoblastic leukemia(62;0.158)	84			Interaction with CEP164 and required for UV resistance.|Poly-Glu.		Q5T1U9|Q6LCW7|Q6LD02	In_Frame_Del	DEL	ENST00000375128.4	37	c.250_252delGAA	CCDS6729.1																																																																																				0.340	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		7	520						7	520	---	---	---	---
DAB2IP	153090	broad.mit.edu	37	9	124522389	124522391	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:124522389_124522391delAAG	ENST00000408936.3	+	6	1023_1025	c.841_843delAAG	c.(841-843)aagdel	p.K285del	DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	285	C2.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGAGACCGACAAGAAGAAGAAGA	0.601																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(841-843)del		DAB2 interacting protein																																				SO:0001651	inframe_deletion	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124522389_124522391delAAG	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.841_843delAAG	9.37:g.124522398_124522400delAAG	ENSP00000386183:p.Lys285del					DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del	p.K285del			Q5VWQ8	DAB2P_HUMAN			6	1023_1025	+			285			C2.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	In_Frame_Del	DEL	ENST00000408936.3	37	c.841_843delAAG																																																																																					0.601	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		9	470						9	470	---	---	---	---
INPP5E	56623	broad.mit.edu	37	9	139333504	139333508	+	Frame_Shift_Del	DEL	GCCCC	GCCCC	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:139333504_139333508delGCCCC	ENST00000371712.3	-	1	766_770	c.364_368delGGGGC	c.(364-369)ggggccfs	p.GA122fs	SEC16A_ENST00000467838.1_5'Flank	NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GTGGGCGGGGGCCCCGGGGCCCTCG	0.698																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(364-369)cfs		inositol polyphosphate-5-phosphatase, 72 kDa																																				SO:0001589	frameshift_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139333504_139333508delGCCCC	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.364_368delGGGGC	9.37:g.139333504_139333508delGCCCC	ENSP00000360777:p.Gly122fs						p.GA122fs	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	1	766_770	-		Myeloproliferative disorder(178;0.0511)	122			13 X 4 AA repeats of P-X-X-P.		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Frame_Shift_Del	DEL	ENST00000371712.3	37	c.364_368delGGGGC	CCDS7000.1																																																																																				0.698	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		12	41						12	41	---	---	---	---
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-	rs545805667	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)gagdel	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458														3	0.000599042	0.0008	0.0	5008	,	,		16930	0.001		0.0	False		,,,				2504	0.001					ENST00000369849.4																			1	Deletion - In frame(1)	p.E449_E450delEE(1)	breast(1)	breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(1345-1347)del		internexin neuronal intermediate filament protein, alpha																																				SO:0001651	inframe_deletion	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105048271_105048273delGAG	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1345_1347delGAG	10.37:g.105048280_105048282delGAG	ENSP00000358865:p.Glu454del						p.E454del	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	3	1394_1396	+			454			Poly-Glu.|Tail.		B1AQK0|Q9BRC5	In_Frame_Del	DEL	ENST00000369849.4	37	c.1345_1347delGAG	CCDS7545.1																																																																																				0.458	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		12	344						12	344	---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.65																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(262-264)del		tetraspanin 4																																				SO:0001651	inframe_deletion	0				protein complex assembly	integral to plasma membrane		g.chr11:864443_864445delCTG	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.262_264delCTG	11.37:g.864452_864454delCTG	ENSP00000380553:p.Leu92del					TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del	p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	521_523	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	In_Frame_Del	DEL	ENST00000397404.1	37	c.262_264delCTG	CCDS7721.1																																																																																				0.650	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			15	476						15	476	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14063263	14063263	+	RNA	DEL	A	A	-	rs113227652|rs369622005		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:14063263delA	ENST00000310358.7	+	0	1017							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GATTGCAGGGAAAAAAAAAAA	0.423																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein																																						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14063263delA	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14063263delA										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1017	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.423	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		9	72						9	72	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65269610	65269610	+	lincRNA	DEL	G	G	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:65269610delG	ENST00000534336.1	+	0	4378					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TACTGTATCTGTTTTCCTTCA	0.418																																						ENST00000534336.1																			0																				58.0	58.0	58.0					11																	65269610		874	1988	2862			0							g.chr11:65269610delG	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269610delG								NR_002819.2						0	4378	+									RNA	DEL	ENST00000534336.1	37																																																																																						0.418	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		116	22						116	22	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115080312	115080314	+	In_Frame_Del	DEL	TGG	TGG	-	rs370430583		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:115080312_115080314delTGG	ENST00000452722.3	-	8	1078_1080	c.1058_1060delCCA	c.(1057-1062)accatc>atc	p.T353del	CADM1_ENST00000537058.1_In_Frame_Del_p.T353del|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.T353del|CADM1_ENST00000542447.2_Intron	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_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del	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		7	233						7	233	---	---	---	---
IFT46	56912	broad.mit.edu	37	11	118427645	118427647	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:118427645_118427647delTCA	ENST00000264021.3	-	4	577_579	c.159_161delTGA	c.(157-162)gatgaa>gaa	p.D53del	IFT46_ENST00000264020.2_In_Frame_Del_p.D104del|IFT46_ENST00000530872.1_In_Frame_Del_p.D104del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	53	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TCCATGCTCTTCATCATCATCAT	0.473																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(310-315)gaa>ga		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427645_118427647delTCA	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.159_161delTGA	11.37:g.118427654_118427656delTCA	ENSP00000264021:p.Asp53del					IFT46_ENST00000530872.1_In_Frame_Del_p.DE104del|IFT46_ENST00000264021.3_In_Frame_Del_p.DE53del	p.DE104del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	689_691	-			53					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.312_314delTGA	CCDS53718.1																																																																																				0.473	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		7	633						7	633	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	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_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del	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		11	219						11	219	---	---	---	---
PLCZ1	89869	broad.mit.edu	37	12	18841025	18841025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:18841025delT	ENST00000538330.1	-	9	1316	c.935delA	c.(934-936)aatfs	p.N312fs	PLCZ1_ENST00000534932.1_Frame_Shift_Del_p.N11fs|PLCZ1_ENST00000435379.1_Frame_Shift_Del_p.N335fs|PLCZ1_ENST00000541695.1_Frame_Shift_Del_p.N393fs|PLCZ1_ENST00000447925.2_Frame_Shift_Del_p.N528fs|PLCZ1_ENST00000266505.7_Frame_Shift_Del_p.N530fs|PLCZ1_ENST00000539875.1_Frame_Shift_Del_p.N337fs					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GAGCTCACCATTTTTTTTAAT	0.294																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1588-1590)atfs		phospholipase C, zeta 1							85.0	89.0	88.0					12																	18841025		2203	4298	6501	SO:0001589	frameshift_variant	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18841025delT	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.935delA	12.37:g.18841025delT	ENSP00000445880:p.Asn312fs					PLCZ1_ENST00000541695.1_Frame_Shift_Del_p.N393fs|PLCZ1_ENST00000539875.1_Frame_Shift_Del_p.N337fs|PLCZ1_ENST00000435379.1_Frame_Shift_Del_p.N335fs|PLCZ1_ENST00000538330.1_Frame_Shift_Del_p.N312fs|PLCZ1_ENST00000447925.2_Frame_Shift_Del_p.N528fs|PLCZ1_ENST00000534932.1_Frame_Shift_Del_p.N11fs	p.N530fs			Q86YW0	PLCZ1_HUMAN			13	1852	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		530			C2.			Frame_Shift_Del	DEL	ENST00000538330.1	37	c.1589delA																																																																																					0.294	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		7	509						7	509	---	---	---	---
SENP1	29843	broad.mit.edu	37	12	48458896	48458896	+	Frame_Shift_Del	DEL	T	T	-	rs192825742	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:48458896delT	ENST00000004980.5	-	12	1705	c.1227delA	c.(1225-1227)aaafs	p.K409fs	SENP1_ENST00000549595.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000549518.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000551330.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000448372.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000339976.6_3'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	409					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.G410fs*3(1)|p.G410fs*4(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				ATTTATGACCTTTTTTTTGTG	0.338																																						ENST00000004980.5																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.G410fs*3(1)|p.G410fs*4(1)	large_intestine(1)|pancreas(1)	large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7						c.(1225-1227)aafs		SUMO1/sentrin specific peptidase 1							122.0	116.0	118.0					12																	48458896		1835	4078	5913	SO:0001589	frameshift_variant	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48458896delT	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1227delA	12.37:g.48458896delT	ENSP00000004980:p.Lys409fs					SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000549595.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000551330.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000448372.1_Frame_Shift_Del_p.K409fs	p.K409fs			Q9P0U3	SENP1_HUMAN			12	1705	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	409					A8K7P5|Q86XC8	Frame_Shift_Del	DEL	ENST00000004980.5	37	c.1227delA	CCDS44868.2																																																																																				0.338	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		7	364						7	364	---	---	---	---
DDN	23109	broad.mit.edu	37	12	49392358	49392359	+	Frame_Shift_Ins	INS	-	-	C	rs376558582		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:49392358_49392359insC	ENST00000421952.2	-	2	321_322	c.300_301insG	c.(298-303)gggcccfs	p.P101fs	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	101						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TCGGCCAGGGGCCCCGCCCGCC	0.723																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(298-303)ggccctfs		dendrin																																				SO:0001589	frameshift_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49392358_49392359insC	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.301dupG	12.37:g.49392362_49392362dupC	ENSP00000390590:p.Pro101fs					RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	p.GP100fs	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	321_322	-			100						Frame_Shift_Ins	INS	ENST00000421952.2	37	c.300_301insG	CCDS31791.2																																																																																				0.723	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			7	188						7	188	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759192	55759192	+	Frame_Shift_Del	DEL	T	T	-	rs398102300|rs75456529	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:55759192delT	ENST00000343399.3	+	1	298	c.298delT	c.(298-300)tttfs	p.F102fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGCTCAGCTATTTTTTTTCAT	0.438													|||unknown(NO_COVERAGE)	81	0.0161741	0.0	0.0	5008	,	,		20060	0.0724		0.002	False		,,,				2504	0.0061					ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(298-300)ttfs		olfactory receptor, family 6, subfamily C, member 75				2,4262		0,2,2130	132.0	126.0	128.0			-5.1	0.0	12	dbSNP_131	128	4,8250		0,4,4123	no	frameshift	OR6C75	NM_001005497.1		0,6,6253	A1A1,A1R,RR		0.0485,0.0469,0.0479			55759192	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759192delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.298delT	12.37:g.55759192delT	ENSP00000368987:p.Phe102fs						p.F102fs	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	298	+			102						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.298delT	CCDS31820.1																																																																																				0.438	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			8	1105						8	1105	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(991-993)ggfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs						p.G331fs	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1587	+		Breast(359;0.0889)	331					B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		9	1423						9	1423	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94658979	94658980	+	Frame_Shift_Ins	INS	-	-	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:94658979_94658980insG	ENST00000258526.4	+	21	3824_3825	c.3575_3576insG	c.(3574-3579)caggttfs	p.V1193fs	PLXNC1_ENST00000547057.1_Frame_Shift_Ins_p.V240fs|PLXNC1_ENST00000545312.1_5'UTR	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1193					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGTTGTGGCAGGTTCCGGAAT	0.465																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3574-3576)cgtfs		plexin C1																																				SO:0001589	frameshift_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94658979_94658980insG	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3577dupG	12.37:g.94658981_94658981dupG	ENSP00000258526:p.Val1193fs					PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Frame_Shift_Ins_p.R239fs	p.R1192fs	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			21	3824_3825	+			1192					Q59H25	Frame_Shift_Ins	INS	ENST00000258526.4	37	c.3575_3576insG	CCDS9049.1																																																																																				0.465	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			9	1840						9	1840	---	---	---	---
C12orf42	374470	broad.mit.edu	37	12	103695960	103695960	+	Frame_Shift_Del	DEL	G	G	-	rs185386009		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:103695960delG	ENST00000378113.2	-	6	1234	c.1009delC	c.(1009-1011)cgcfs	p.R337fs	C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Frame_Shift_Del_p.R270fs	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CGGGTTGGGCGGGGGGGTGCT	0.587																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(808-810)gcfs		chromosome 12 open reading frame 42			,	13,3511		2,9,1751	48.0	56.0	54.0		,	0.8	0.2	12		55	19,7773		0,19,3877	no	frameshift,frameshift	C12orf42	NM_198521.2,NM_001099336.1	,	2,28,5628	A1A1,A1R,RR		0.2438,0.3689,0.2828	,	,	103695960	32,11284	1843	4081	5924	SO:0001589	frameshift_variant	374470							g.chr12:103695960delG	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.1009delC	12.37:g.103695960delG	ENSP00000367353:p.Arg337fs					C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs	p.R270fs			Q96LP6	CL042_HUMAN			9	1304	-			337					Q49A64|Q4G0S2	Frame_Shift_Del	DEL	ENST00000378113.2	37	c.808delC	CCDS44963.1																																																																																				0.587	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		8	741						8	741	---	---	---	---
SBNO1	55206	broad.mit.edu	37	12	123794283	123794283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:123794283delT	ENST00000602398.1	-	26	3543	c.3416delA	c.(3415-3417)aatfs	p.N1139fs	SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000420886.2_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1139					regulation of transcription, DNA-templated (GO:0006355)			p.N1138fs*9(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATATCTTCCATTTTTTTTGGC	0.388																																						ENST00000420886.2																			1	Deletion - Frameshift(1)	p.N1138fs*9(1)	large_intestine(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3415-3417)atfs		strawberry notch homolog 1 (Drosophila)							134.0	131.0	132.0					12																	123794283		2203	4300	6503	SO:0001589	frameshift_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123794283delT	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3416delA	12.37:g.123794283delT	ENSP00000473665:p.Asn1139fs					SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs	p.N1139fs	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	25	3415	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1139					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Frame_Shift_Del	DEL	ENST00000602398.1	37	c.3416delA	CCDS53844.1																																																																																				0.388	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		13	1011						13	1011	---	---	---	---
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Intron	DEL	TG	TG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:124103201_124103202delTG	ENST00000238146.4	+	12	1214				DDX55_ENST00000541259.1_Intron|SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000421670.3_De_novo_Start_InFrame	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.52											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000421670.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14								DEAD (Asp-Glu-Ala-Asp) box polypeptide 55																																				SO:0001627	intron_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124103201_124103202delTG	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1165-14TG>-	12.37:g.124103211_124103212delTG			OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DDX55_ENST00000541259.1_Intron|DDX55_ENST00000238146.4_Intron|DDX55_ENST00000538744.1_Intron				Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	0	639_640	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)							Q658L6|Q8IYH0|Q9HCH7	Translation_Start_Site	DEL	ENST00000238146.4	37		CCDS9251.1																																																																																				0.520	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			14	336						14	336	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124848228	124848228	+	Frame_Shift_Del	DEL	G	G	-	rs12321697		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:124848228delG	ENST00000405201.1	-	21	2925	c.2925delC	c.(2923-2925)cccfs	p.P975fs	NCOR2_ENST00000397355.1_Frame_Shift_Del_p.P958fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000356219.3_Frame_Shift_Del_p.P975fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.P528fs			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_ENST00000397355.1_Frame_Shift_Del_p.P958fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.P528fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.P957fs|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		8	1075						8	1075	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gtgfs	p.V1447fs	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4336-4338)gfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220099_133220100delCA		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4337_4338delTG	12.37:g.133220109_133220110delCA	ENSP00000322570:p.Val1447fs					POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	p.V1447fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4380_4381	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1447					Q13533|Q86VH9	Frame_Shift_Del	DEL	ENST00000320574.5	37	c.4337_4338delTG	CCDS9278.1																																																																																				0.604	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		32	1608						32	1608	---	---	---	---
HSPH1	10808	broad.mit.edu	37	13	31715381	31715382	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr13:31715381_31715382insT	ENST00000320027.5	-	13	2075_2076	c.1731_1732insA	c.(1729-1734)aaagttfs	p.V578fs	HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.V397fs|HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.V580fs|HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.V534fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.V537fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	578					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTGGTCAACTTTTTTTTCAT	0.376																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1729-1734)aattgafs		heat shock 105kDa/110kDa protein 1																																				SO:0001589	frameshift_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31715381_31715382insT	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1732dupA	13.37:g.31715389_31715389dupT	ENSP00000318687:p.Val578fs					HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs|HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs	p.N*577fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	13	2075_2076	-		Lung SC(185;0.0257)	577					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Frame_Shift_Ins	INS	ENST00000320027.5	37	c.1731_1732insA	CCDS9340.1																																																																																				0.376	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			8	647						8	647	---	---	---	---
ELF1	1997	broad.mit.edu	37	13	41532986	41532988	+	In_Frame_Del	DEL	TCA	TCA	-	rs375076980		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr13:41532986_41532988delTCA	ENST00000239882.3	-	3	551_553	c.237_239delTGA	c.(235-240)gatgac>gac	p.79_80DD>D	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_In_Frame_Del_p.79_80DD>D	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	79	Poly-Asp.				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)		AAGGGTGATGTCATCATCATCAT	0.483																																						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.(235-240)gac>ga		E74-like factor 1 (ets domain transcription factor)																																				SO:0001651	inframe_deletion	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.chr13:41532986_41532988delTCA	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.237_239delTGA	13.37:g.41532995_41532997delTCA	ENSP00000239882:p.Asp80del					ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_In_Frame_Del_p.DD79del	p.DD79del	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)	3	551_553	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	79			Poly-Asp.		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	In_Frame_Del	DEL	ENST00000239882.3	37	c.237_239delTGA	CCDS9374.1																																																																																				0.483	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		7	647						7	647	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	515						8	515	---	---	---	---
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr13:95696016delT	ENST00000376887.4	-	29	3769	c.3655delA	c.(3655-3657)atcfs	p.I1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTCTCCCGGATTTTTTTTTGT	0.378																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3655-3657)tcfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						105.0	104.0	104.0					13																	95696016		2203	4300	6503	SO:0001589	frameshift_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95696016delT	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3655delA	13.37:g.95696016delT	ENSP00000366084:p.Ile1219fs					ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	p.I1219fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			29	3769	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1219			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Frame_Shift_Del	DEL	ENST00000376887.4	37	c.3655delA	CCDS9474.1																																																																																				0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		8	564						8	564	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000359320.3_5'Flank|IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000382809.2_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			14	905						14	905	---	---	---	---
MGAT2	4247	broad.mit.edu	37	14	50088327	50088327	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr14:50088327delC	ENST00000305386.2	+	1	839	c.341delC	c.(340-342)gccfs	p.A114fs	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	114					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GGCACCTGGGCCCCCCGGGAG	0.602																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(340-342)gcfs		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							63.0	76.0	72.0					14																	50088327		2203	4299	6502	SO:0001589	frameshift_variant	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088327delC	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.341delC	14.37:g.50088327delC	ENSP00000307423:p.Ala114fs					RP11-649E7.5_ENST00000555043.1_RNA	p.A114fs	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	839	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		114					B3KPC5|B3KQM0	Frame_Shift_Del	DEL	ENST00000305386.2	37	c.341delC	CCDS9690.1																																																																																				0.602	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		7	1182						7	1182	---	---	---	---
HSP90AA1	3320	broad.mit.edu	37	14	102551161	102551163	+	In_Frame_Del	DEL	TCT	TCT	-	rs55793809	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr14:102551161_102551163delTCT	ENST00000216281.8	-	5	1041_1043	c.836_838delAGA	c.(835-840)aagatt>att	p.K279del	HSP90AA1_ENST00000334701.7_In_Frame_Del_p.K401del|HSP90AA1_ENST00000441629.2_In_Frame_Del_p.K100del	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	279					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	ttttccttaatcttcttcttctt	0.389																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1201-1206)att>a		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)																																			SO:0001651	inframe_deletion	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102551161_102551163delTCT	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.836_838delAGA	14.37:g.102551170_102551172delTCT	ENSP00000216281:p.Lys279del					HSP90AA1_ENST00000441629.2_In_Frame_Del_p.KI100del|HSP90AA1_ENST00000216281.8_In_Frame_Del_p.KI279del	p.KI401del	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			6	1483_1485	-			279					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	In_Frame_Del	DEL	ENST00000216281.8	37	c.1202_1204delAGA	CCDS9967.1																																																																																				0.389	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		7	340						7	340	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42742957	42742957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:42742957delA	ENST00000263805.4	-	2	1770	c.1444delT	c.(1444-1446)tccfs	p.S482fs	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	482					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCTCCAGGGGAAAAAAAATTT	0.393																																						ENST00000263805.4																			0											c.(1444-1446)ccfs		zinc finger protein 106							208.0	205.0	206.0					15																	42742957		2203	4299	6502	SO:0001589	frameshift_variant	64397							g.chr15:42742957delA	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1444delT	15.37:g.42742957delA	ENSP00000263805:p.Ser482fs					ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	p.S482fs	NM_022473.1	NP_071918.1					2	1770	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Frame_Shift_Del	DEL	ENST00000263805.4	37	c.1444delT	CCDS32208.1																																																																																				0.393	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		7	817						7	817	---	---	---	---
HMGN2P46	283651	broad.mit.edu	37	15	45848231	45848231	+	lincRNA	DEL	T	T	-	rs372861121|rs368577527		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:45848231delT	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TTTGTTTAGCTTTTTTTTTTT	0.323																																						ENST00000409454.1																			0																																																			0							g.chr15:45848231delT																													15.37:g.45848231delT														0	1226	+									RNA	DEL	ENST00000557965.1	37																																																																																						0.323	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			15	59						15	59	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64967246	64967247	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:64967246_64967247insA	ENST00000326648.3	+	4	2321_2322	c.2193_2194insA	c.(2194-2196)aaafs	p.K732fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	732	Poly-Lys.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAGAAAGACAAAAAAAAGAA	0.49																																						ENST00000326648.3																			1	Deletion - Frameshift(1)	p.K734fs*12(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2191-2196)gaaaaafs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64967246_64967247insA	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2201dupA	15.37:g.64967254_64967254dupA	ENSP00000316527:p.Lys732fs						p.EK731fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	2321_2322	+			731			Poly-Lys.		Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.2193_2194insA	CCDS32270.1																																																																																				0.490	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		7	638						7	638	---	---	---	---
PIAS1	8554	broad.mit.edu	37	15	68379085	68379089	+	Splice_Site	DEL	CTAGG	CTAGG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:68379085_68379089delCTAGG	ENST00000249636.6	+	2	614_617	c.466_469delCTAGG	c.(466-471)ctaggc>gc	p.LG156fs	PIAS1_ENST00000545237.1_Splice_Site_p.LG158fs	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	156	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ACCCACCAGTCTAGGTAAGATTATT	0.327																																						ENST00000545237.1																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.e3+1		protein inhibitor of activated STAT, 1																																				SO:0001630	splice_region_variant	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68379085_68379089delCTAGG	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.469+1CTAGG>-	15.37:g.68379085_68379089delCTAGG						PIAS1_ENST00000249636.6_Splice_Site_p.156_splice	p.158_splice			O75925	PIAS1_HUMAN			3	1213_1216	+			156			PINIT.		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Splice_Site	DEL	ENST00000249636.6	37	c.475_splice	CCDS45290.1																																																																																				0.327	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2		Frame_Shift_Del	62	23						62	23	---	---	---	---
CSPG4P5	114817	broad.mit.edu	37	15	84958415	84958426	+	RNA	DEL	CGAGGACATTGG	CGAGGACATTGG	-	rs535146949|rs548644616|rs373234755	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:84958415_84958426delCGAGGACATTGG	ENST00000558801.1	-	0	6303_6314									DNM1 pseudogene 51																		TCGGGCACCACGAGGACATTGGTGAGGACAGG	0.557														177	0.0353435	0.0015	0.0403	5008	,	,		20334	0.0198		0.0905	False		,,,				2504	0.0368					ENST00000558801.1																			0																																																			0							g.chr15:84958415_84958426delCGAGGACATTGG			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84958415_84958426delCGAGGACATTGG														0	6303_6314	-									RNA	DEL	ENST00000558801.1	37																																																																																						0.557	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471721.1			3	4						3	4	---	---	---	---
KNOP1	400506	broad.mit.edu	37	16	19722724	19722724	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:19722724delT	ENST00000219837.7	-	3	1035	c.957delA	c.(955-957)aaafs	p.K319fs	KNOP1_ENST00000568230.1_5'UTR|AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	319	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G320fs*5(1)|p.K319N(1)									CCATGTTGCCTTTTTTTTCCA	0.562																																						ENST00000219837.7																			2	Substitution - Missense(1)|Insertion - Frameshift(1)	p.G320fs*5(1)|p.K319N(1)	large_intestine(1)|lung(1)								c.(955-957)aafs		lysine-rich nucleolar protein 1				8,4200		0,8,2096	224.0	244.0	237.0			3.5	0.9	16		241	11,8211		0,11,4100	no	frameshift	C16orf88	NM_001012991.2		0,19,6196	A1A1,A1R,RR		0.1338,0.1901,0.1529			19722724	19,12411	2184	4291	6475	SO:0001589	frameshift_variant	400506							g.chr16:19722724delT	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.957delA	16.37:g.19722724delT	ENSP00000219837:p.Lys319fs					AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'UTR	p.K319fs	NM_001012991.2	NP_001013009.2					3	1035	-								O43328|Q5FWF3	Frame_Shift_Del	DEL	ENST00000219837.7	37	c.957delA	CCDS42127.1																																																																																				0.562	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		8	303						8	303	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)gagdel	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(784-786)del		iroquois homeobox 6																																				SO:0001651	inframe_deletion	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362674_55362676delGAG	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.784_786delGAG	16.37:g.55362683_55362685delGAG	ENSP00000290552:p.Glu268del					RP11-26L20.3_ENST00000558730.2_RNA	p.E268del	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2116_2118	+			268					B2RN06|Q7Z2K0	In_Frame_Del	DEL	ENST00000290552.7	37	c.784_786delGAG	CCDS32449.1																																																																																				0.626	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		11	270						11	270	---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-	rs528891272	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(565-570)gaa>ga		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	28987					nucleus	metal ion binding|protein binding	g.chr16:69782978_69782980delTCC	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.567_569delGGA	16.37:g.69782987_69782989delTCC	ENSP00000268802:p.Glu191del						p.EE189del	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			6	596_598	-			189			Poly-Glu.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	In_Frame_Del	DEL	ENST00000268802.5	37	c.567_569delGGA	CCDS10884.1																																																																																				0.522	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		10	279						10	279	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77356311	77356311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:77356311delA	ENST00000282849.5	-	14	2503	c.2085delT	c.(2083-2085)tttfs	p.F695fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	695	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A696fs*18(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGGACATTGCAAAAAAAAATT	0.403																																						ENST00000282849.5																			2	Insertion - Frameshift(2)	p.A696fs*18(2)	large_intestine(2)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2083-2085)ttfs		ADAM metallopeptidase with thrombospondin type 1 motif, 18							145.0	143.0	143.0					16																	77356311		2198	4300	6498	SO:0001589	frameshift_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356311delA	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2085delT	16.37:g.77356311delA	ENSP00000282849:p.Phe695fs						p.F695fs	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			14	2503	-			695			Cys-rich.		Q6P4R5|Q6ZWJ9	Frame_Shift_Del	DEL	ENST00000282849.5	37	c.2085delT	CCDS10926.1																																																																																				0.403	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			8	385						8	385	---	---	---	---
SPIRE2	84501	broad.mit.edu	37	16	89916879	89916880	+	In_Frame_Ins	INS	-	-	GAG	rs146569219|rs377330880	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:89916879_89916880insGAG	ENST00000378247.3	+	3	499_500	c.456_457insGAG	c.(457-459)gag>GAGgag	p.153_153E>EE	SPIRE2_ENST00000393062.2_In_Frame_Ins_p.153_153E>EE|SPIRE2_ENST00000564878.1_3'UTR	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	153	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGGGGGTCCCGAGGAGGAGGA	0.728														371	0.0740815	0.0038	0.0245	5008	,	,		12494	0.2679		0.0606	False		,,,				2504	0.0184					ENST00000378247.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(454-459)ccagga>ccGAGagga		spire-type actin nucleation factor 2																																				SO:0001652	inframe_insertion	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89916879_89916880insGAG	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.469_471dupGAG	16.37:g.89916886_89916888dupGAG	ENSP00000367494:p.Glu157dup					SPIRE2_ENST00000564878.1_3'UTR|SPIRE2_ENST00000393062.2_In_Frame_Ins_p.152_153PG>PRG	p.152_153PG>PRG	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	3	499_500	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	152			KIND.		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	In_Frame_Ins	INS	ENST00000378247.3	37	c.456_457insGAG	CCDS32516.1																																																																																				0.728	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		26	15						26	15	---	---	---	---
NDEL1	81565	broad.mit.edu	37	17	8370271	8370273	+	In_Frame_Del	DEL	CTC	CTC	-	rs557733194	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:8370271_8370273delCTC	ENST00000334527.7	+	9	1165_1167	c.968_970delCTC	c.(967-972)gctcct>gct	p.P327del	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000402554.3_3'UTR	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	327	Interaction with CENPF.|Interaction with NEFL. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						TTTGACCCCGCTCCTCCTCCTCC	0.576																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(967-972)gct>g		nudE neurodevelopment protein 1-like 1																																				SO:0001651	inframe_deletion	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8370271_8370273delCTC	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.968_970delCTC	17.37:g.8370280_8370282delCTC	ENSP00000333982:p.Pro327del					NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_3'UTR|NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000299734.7_Intron	p.AP323del	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			9	1165_1167	+			323			Interaction with CENPF.|Interaction with NEFL (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	In_Frame_Del	DEL	ENST00000334527.7	37	c.968_970delCTC	CCDS11143.1																																																																																				0.576	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		9	772						9	772	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	MYH10_ENST00000360416.3_In_Frame_Del_p.E967del|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del	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_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del	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	598						7	598	---	---	---	---
WDR16	146845	broad.mit.edu	37	17	9503387	9503389	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:9503387_9503389delGAT	ENST00000352665.5	+	6	709_711	c.640_642delGAT	c.(640-642)gatdel	p.D217del	WDR16_ENST00000299764.5_In_Frame_Del_p.D227del|WDR16_ENST00000396219.3_In_Frame_Del_p.D149del	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTTCAGGTGGATGATGATGATA	0.502																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(640-642)del		WD repeat domain 16																																				SO:0001651	inframe_deletion	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9503387_9503389delGAT	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.640_642delGAT	17.37:g.9503396_9503398delGAT	ENSP00000339449:p.Asp217del					WDR16_ENST00000396219.3_In_Frame_Del_p.D149del|WDR16_ENST00000299764.5_In_Frame_Del_p.D227del	p.D217del	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			6	709_711	+			217						In_Frame_Del	DEL	ENST00000352665.5	37	c.640_642delGAT	CCDS11149.2																																																																																				0.502	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		8	808						8	808	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18023292	18023293	+	Frame_Shift_Ins	INS	-	-	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:18023292_18023293insC	ENST00000205890.5	+	2	1516_1517	c.1178_1179insC	c.(1177-1182)taccccfs	p.YP393fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	393					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAGGCCATCTACCCCCCCGAGG	0.619																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1177-1179)tccfs		myosin XVA				4,3628		0,4,1812						5.4	1.0			79	3,7851		0,3,3924	no	frameshift	MYO15A	NM_016239.3		0,7,5736	A1A1,A1R,RR		0.0382,0.1101,0.0609				7,11479				SO:0001589	frameshift_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023292_18023293insC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1185dupC	17.37:g.18023299_18023299dupC	ENSP00000205890:p.Tyr393fs						p.S393fs	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1516_1517	+	all_neural(463;0.228)		393			Myosin head-like.		B4DFC7	Frame_Shift_Ins	INS	ENST00000205890.5	37	c.1178_1179insC	CCDS42271.1																																																																																				0.619	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		11	872						11	872	---	---	---	---
MIEF2	125170	broad.mit.edu	37	17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	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		9	515						9	515	---	---	---	---
NSRP1	84081	broad.mit.edu	37	17	28505166	28505167	+	Frame_Shift_Ins	INS	-	-	A	rs143842750	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:28505166_28505167insA	ENST00000247026.5	+	4	312_313	c.249_250insA	c.(250-252)aaafs	p.K84fs	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	84					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						ATGAAATGCAGAAAAAAAAGGA	0.332																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(247-252)caaaaafs		nuclear speckle splicing regulatory protein 1																																				SO:0001589	frameshift_variant	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28505166_28505167insA	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.257dupA	17.37:g.28505174_28505174dupA	ENSP00000247026:p.Lys84fs					NSRP1_ENST00000540900.3_3'UTR	p.QK83fs	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			4	312_313	+			83					Q6FI71	Frame_Shift_Ins	INS	ENST00000247026.5	37	c.249_250insA	CCDS11255.1																																																																																				0.332	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		7	534						7	534	---	---	---	---
PLCD3	113026	broad.mit.edu	37	17	43192760	43192762	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:43192760_43192762delTCC	ENST00000322765.5	-	9	1622_1624	c.1509_1511delGGA	c.(1507-1512)gaggat>gat	p.E503del	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	503					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E503D(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						ctcctcgtcatcctcctcctcct	0.67																																						ENST00000322765.5																			2	Substitution - Missense(2)	p.E503D(2)	prostate(2)	breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(1507-1512)gat>ga		phospholipase C, delta 3	Phosphatidylserine(DB00144)			316,3576		28,260,1658						-0.9	0.0			15	741,7257		61,619,3319	no	coding	PLCD3	NM_133373.3		89,879,4977	A1A1,A1R,RR		9.2648,8.1192,8.8898				1057,10833				SO:0001651	inframe_deletion	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43192760_43192762delTCC	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1509_1511delGGA	17.37:g.43192769_43192771delTCC	ENSP00000313731:p.Glu503del					PLCD3_ENST00000540511.1_5'UTR	p.ED503del	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			9	1622_1624	-			503					Q8TEC1|Q8TF37|Q96FL6	In_Frame_Del	DEL	ENST00000322765.5	37	c.1509_1511delGGA																																																																																					0.670	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		8	145						8	145	---	---	---	---
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)aagfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(586-588)agfs		coilin							141.0	132.0	135.0					17																	55028016		2203	4300	6503	SO:0001589	frameshift_variant	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028016delT	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.587delA	17.37:g.55028016delT	ENSP00000240316:p.Lys196fs						p.K196fs	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	621	-	Breast(9;6.15e-08)		196			Lys-rich (basic).		B2R931	Frame_Shift_Del	DEL	ENST00000240316.4	37	c.587delA	CCDS11592.1																																																																																				0.393	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			8	726						8	726	---	---	---	---
LGALS3BP	3959	broad.mit.edu	37	17	76967722	76967723	+	Frame_Shift_Ins	INS	-	-	G			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:76967722_76967723insG	ENST00000262776.3	-	6	2001_2002	c.1693_1694insC	c.(1693-1695)cacfs	p.H565fs	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	565					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCCGTTGAAGTGCCCTGCCGGG	0.634											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)	ENST00000262776.3																			0				NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1693-1695)cttfs		lectin, galactoside-binding, soluble, 3 binding protein																																				SO:0001589	frameshift_variant	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76967722_76967723insG	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1694dupC	17.37:g.76967723_76967723dupG	ENSP00000262776:p.His565fs		OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	LGALS3BP_ENST00000591778.1_3'UTR	p.L565fs	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	2001_2002	-			565					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Frame_Shift_Ins	INS	ENST00000262776.3	37	c.1693_1694insC	CCDS11759.1																																																																																				0.634	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		10	291						10	291	---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47812275	47812277	+	In_Frame_Del	DEL	CTG	CTG	-	rs527645784	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr18:47812275_47812277delCTG	ENST00000285106.6	-	5	1195_1197	c.481_483delCAG	c.(481-483)cagdel	p.Q161del	CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	161					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCGTTTGATctgctgctgctgc	0.557														27	0.00539137	0.0151	0.0	5008	,	,		19878	0.0		0.0	False		,,,				2504	0.0072					ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(481-483)del		CXXC finger protein 1																																				SO:0001651	inframe_deletion	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812275_47812277delCTG	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.481_483delCAG	18.37:g.47812284_47812286delCTG	ENSP00000285106:p.Gln161del					CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del|CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del	p.Q161del	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			5	1195_1197	-			161					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	In_Frame_Del	DEL	ENST00000285106.6	37	c.481_483delCAG	CCDS11945.1																																																																																				0.557	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		8	251						8	251	---	---	---	---
CATSPERD	257062	broad.mit.edu	37	19	5744474	5744474	+	Frame_Shift_Del	DEL	T	T	-	rs371175663		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:5744474delT	ENST00000381624.3	+	8	671	c.610delT	c.(610-612)tttfs	p.F205fs	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	205					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											AATCTTCCACTTTTTTTCTTT	0.413																																						ENST00000381624.3																			0											c.(610-612)ttfs		catsper channel auxiliary subunit delta							208.0	182.0	190.0					19																	5744474		1833	4094	5927	SO:0001589	frameshift_variant	257062					integral to membrane		g.chr19:5744474delT	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.610delT	19.37:g.5744474delT	ENSP00000371037:p.Phe205fs					CATSPERD_ENST00000381614.2_5'UTR	p.F205fs	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			8	671	+			205					Q6ZRP1	Frame_Shift_Del	DEL	ENST00000381624.3	37	c.610delT	CCDS12149.2																																																																																				0.413	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		7	1075						7	1075	---	---	---	---
PDE4A	5141	broad.mit.edu	37	19	10578143	10578144	+	Frame_Shift_Ins	INS	-	-	C			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:10578143_10578144insC	ENST00000352831.6	+	15	2617_2618	c.2507_2508insC	c.(2506-2511)ctcccgfs	p.LP836fs	PDE4A_ENST00000440014.2_Frame_Shift_Ins_p.LP775fs|PDE4A_ENST00000380702.2_Frame_Shift_Ins_p.LP814fs|PDE4A_ENST00000344979.3_Frame_Shift_Ins_p.LP597fs|PDE4A_ENST00000293683.5_Frame_Shift_Ins_p.LP810fs|PDE4A_ENST00000592685.1_Frame_Shift_Ins_p.LP814fs	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	836					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GCCCCGGGCCTCCCGGGCCTCC	0.663																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2440-2442)cccfs		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)																																			SO:0001589	frameshift_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10578143_10578144insC		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2510dupC	19.37:g.10578146_10578146dupC	ENSP00000270474:p.Leu836fs					PDE4A_ENST00000440014.2_Frame_Shift_Ins_p.P775fs|PDE4A_ENST00000352831.6_Frame_Shift_Ins_p.P836fs|PDE4A_ENST00000592685.1_Frame_Shift_Ins_p.P814fs|PDE4A_ENST00000344979.3_Frame_Shift_Ins_p.P597fs|PDE4A_ENST00000293683.5_Frame_Shift_Ins_p.P810fs	p.P814fs			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		16	2441_2442	+			836					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Frame_Shift_Ins	INS	ENST00000352831.6	37	c.2441_2442insC	CCDS45961.1																																																																																				0.663	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			7	1139						7	1139	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(172-174)del		free fatty acid receptor 2																																				SO:0001651	inframe_deletion	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940788_35940790delCTG	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.172_174delCTG	19.37:g.35940797_35940799delCTG	ENSP00000473159:p.Leu62del					FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron	p.L62del			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	252_254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		62					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	In_Frame_Del	DEL	ENST00000599180.2	37	c.172_174delCTG	CCDS12461.1																																																																																				0.645	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		9	298						9	298	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		7	1743						7	1743	---	---	---	---
PROSER3	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-	rs370252048		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2.0	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			14	1820						14	1820	---	---	---	---
CD93	22918	broad.mit.edu	37	20	23065887	23065887	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:23065887delC	ENST00000246006.4	-	1	1090	c.943delG	c.(943-945)gccfs	p.A315fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	315	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACGCACGTGGCCCCCCCACGA	0.637																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(943-945)ccfs		CD93 molecule							42.0	46.0	45.0					20																	23065887		2203	4300	6503	SO:0001589	frameshift_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065887delC	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.943delG	20.37:g.23065887delC	ENSP00000246006:p.Ala315fs						p.A315fs	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1090	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		315			EGF-like 2.		O00274	Frame_Shift_Del	DEL	ENST00000246006.4	37	c.943delG	CCDS13149.1																																																																																				0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		7	517						7	517	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)cagcaa>caa	p.1030_1031QQ>Q	NCOA6_ENST00000359003.2_In_Frame_Del_p.1030_1031QQ>Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCATTtgttgctgctgctgct	0.576																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(3088-3093)caa>ca		nuclear receptor coactivator 6																																				SO:0001651	inframe_deletion	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330968_33330970delTGC	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3090_3092delGCA	20.37:g.33330977_33330979delTGC	ENSP00000363929:p.Gln1032del					NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del	p.QQ1030del			Q14686	NCOA6_HUMAN			12	5660_5662	-			1030			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	In_Frame_Del	DEL	ENST00000374796.2	37	c.3090_3092delGCA	CCDS13241.1																																																																																				0.576	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		11	672						11	672	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58452518	58452519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:58452518_58452519insT	ENST00000357552.3	-	33	3296_3297	c.3071_3072insA	c.(3070-3072)aacfs	p.N1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.N1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3070-3072)atafs		synaptonemal complex protein 2				10,4248		0,10,2119						5.8	1.0			60	10,8234		0,10,4112	no	frameshift	SYCP2	NM_014258.2		0,20,6231	A1A1,A1R,RR		0.1213,0.2349,0.16				20,12482				SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58452518_58452519insT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3072dupA	20.37:g.58452527_58452527dupT	ENSP00000350162:p.Asn1024fs					SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs	p.I1024fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		33	3296_3297	-	all_lung(29;0.00344)		1024					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Ins	INS	ENST00000357552.3	37	c.3071_3072insA	CCDS13482.1																																																																																				0.327	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		10	566						10	566	---	---	---	---
CBR3	874	broad.mit.edu	37	21	37518893	37518894	+	IGR	INS	-	-	T	rs113213749		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr21:37518893_37518894insT	ENST00000290354.5	+	0	1169				CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000427491.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3						cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	tatttctgttcttttttttttt	0.45																																						ENST00000413862.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr21:37518893_37518894insT	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617		21.37:g.37518904_37518904dupT						CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000453159.1_RNA		NR_038892.1						0	79	-								Q6FHP2	RNA	INS	ENST00000290354.5	37		CCDS13642.1																																																																																				0.450	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1			8	57						8	57	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17127506	17127507	+	lincRNA	INS	-	-	A	rs546582747|rs190702005	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr22:17127506_17127507insA	ENST00000426585.1	+	0	442									transmembrane phosphatase with tensin homology pseudogene 1																		AGGGCCTAGAGAAAAAAAAAAT	0.421													|||unknown(NO_COVERAGE)	11	0.00219649	0.0023	0.0014	5008	,	,		23257	0.001		0.001	False		,,,				2504	0.0051					ENST00000426585.1																			0																																																			0							g.chr22:17127506_17127507insA			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17127516_17127516dupA														0	442	+									RNA	INS	ENST00000426585.1	37																																																																																						0.421	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		8	200						8	200	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120323	38120325	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr22:38120323_38120325delCCT	ENST00000406386.3	+	7	2015_2017	c.1760_1762delCCT	c.(1759-1764)gcctcc>gcc	p.S589del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	589					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)			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)					AATCCCAGAGCCTCCTCTCCCAA	0.596																																						ENST00000406386.3																			0				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.(1759-1764)gcc>g		TRIO and F-actin binding protein																																				SO:0001651	inframe_deletion	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.chr22:38120323_38120325delCCT	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.1760_1762delCCT	22.37:g.38120326_38120328delCCT	ENSP00000384312:p.Ser589del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS587del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2015_2017	+	Melanoma(58;0.0574)		587					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1760_1762delCCT	CCDS43015.1																																																																																				0.596	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			15	920						15	920	---	---	---	---
NDUFA6-AS1	100132273	broad.mit.edu	37	22	42537119	42537120	+	RNA	INS	-	-	A	rs142656198|rs540642647|rs68023760|rs55861500	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr22:42537119_42537120insA	ENST00000416037.2	+	0	8970				CYP2D7P1_ENST00000358097.4_RNA|RP4-669P10.16_ENST00000428786.1_RNA|CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA	NR_034118.1				NDUFA6 antisense RNA 1 (head to head)																		GGGCTACCACCGGGGCTGATGC	0.614														2230	0.445288	0.202	0.4697	5008	,	,		12179	0.748		0.494	False		,,,				2504	0.3947					ENST00000435101.1																			0				endometrium(1)	1																																														0							g.chr22:42537119_42537120insA	BC039542		22q13.2	2013-03-18	2013-03-18		ENSG00000237037	ENSG00000237037		"""Long non-coding RNAs"""	45273	non-coding RNA	RNA, long non-coding							Standard	NR_034118		Approved		uc003bcd.1		OTTHUMG00000150917		22.37:g.42537119_42537120insA						CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA								0	296	-									RNA	INS	ENST00000416037.2	37																																																																																						0.614	NDUFA6-AS1-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000320522.4	NR_034118		4	5						4	5	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73071762	73071762	+	lincRNA	DEL	A	A	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chrX:73071762delA	ENST00000429829.1	-	0	826					NR_001564.2				X inactive specific transcript (non-protein coding)																		GATCAGCAGCAAAAAAAAGTG	0.413																																						ENST00000429829.1																			0																	0,1964		0,0,0,810,344	115.0	108.0	110.0			3.4	0.9	X		112	9,3629		3,0,3,1360,909	no	intergenic				3,0,3,2170,1253	A1A1,A1R,A1,RR,R		0.2474,0.0,0.1607			73071762	9,5593	876	1991	2867			0							g.chrX:73071762delA	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071762delA								NR_001564.2						0	826	-									RNA	DEL	ENST00000429829.1	37																																																																																						0.413	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		8	421						8	421	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76778853	76778879	+	Splice_Site	DEL	CTGAAGGAGCTCTGCAAGTATGGTATC	CTGAAGGAGCTCTGCAAGTATGGTATC	-	rs199474698		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chrX:76778853_76778879delCTGAAGGAGCTCTGCAAGTATGGTATC	ENST00000373344.5	-	31	6914_6940	c.6700_6726delGATACCATACTTGCAGAGCTCCTTCAG	c.(6700-6726)gataccatacttgcagagctccttcagdel	p.DTILAELLQ2234del	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.DTILAELLQ2196del	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2234	Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.D2234G(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						CTTTATGTATCTGAAGGAGCTCTGCAAGTATGGTATCCTGTTTAGAG	0.379			"""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	Substitution - Missense(1)	p.D2234G(1)	haematopoietic_and_lymphoid_tissue(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.e31-1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76778853_76778879delCTGAAGGAGCTCTGCAAGTATGGTATC	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.6700-1GATACCATACTTGCAGAGCTCCTTCAG>-	X.37:g.76778853_76778879delCTGAAGGAGCTCTGCAAGTATGGTATC						ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.DTILAELLQ2196_splice	p.DTILAELLQ2234_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			31	6914_6940	-			2234					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	DEL	ENST00000373344.5	37	c.6699_splice	CCDS14434.1																																																																																				0.379	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	In_Frame_Del	127	234						127	234	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		17	768						17	768	---	---	---	---
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-	rs374572591		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		8	535						8	535	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		8	392						8	392	---	---	---	---
