#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
CNTLN	54875	broad.mit.edu	37	9	17416086	17416086	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr9:17416086G>A	ENST00000380647.3	+	18	3097	c.3013G>A	c.(3013-3015)Gca>Aca	p.A1005T	CNTLN_ENST00000262360.5_Missense_Mutation_p.A1005T|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1005T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1005					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAAGAAAACAGCAGAATTGTC	0.348																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3013-3015)Gca>Aca		centlein, centrosomal protein							87.0	83.0	84.0					9																	17416086		1826	4079	5905	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17416086G>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3013G>A	9.37:g.17416086G>A	ENSP00000370021:p.Ala1005Thr					CNTLN_ENST00000262360.5_Missense_Mutation_p.A1005T|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1005T	p.A1005T			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	18	3097	+			1005					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.3013G>A	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717140	0.48622	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.24151	1.87;1.87;2.13	4.98	4.06	0.47325	.	.	.	.	.	T	0.28433	0.0703	L	0.58669	1.825	0.36720	D	0.881143	P;P;P	0.46142	0.865;0.873;0.873	B;P;P	0.45681	0.301;0.49;0.49	T	0.11567	-1.0582	9	0.15952	T	0.53	.	12.2323	0.54495	0.0859:0.0:0.9141:0.0	.	1005;1005;1005	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	T	1005	ENSP00000370021:A1005T;ENSP00000392798:A1005T;ENSP00000262360:A1005T	ENSP00000262360:A1005T	A	+	1	0	CNTLN	17406086	0.986000	0.35501	0.975000	0.42487	0.988000	0.76386	2.929000	0.48916	2.459000	0.83118	0.467000	0.42956	GCA		0.348	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		101	224	0	0	0	1	0	101	224				
RP11-423O2.5	0	broad.mit.edu	37	1	142803586	142803586	+	lincRNA	SNP	A	A	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:142803586A>T	ENST00000423385.1	-	0	1379																											GATTTAAAAAATTATGTTAAC	0.274																																						ENST00000423385.1																			0																																																			0							g.chr1:142803586A>T																													1.37:g.142803586A>T														0	1379	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.274	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			12	691	0	0	0	1	0	12	691				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	58	0	0	0	1	0	3	58				
AGAP7P	653268	broad.mit.edu	37	10	51465226	51465226	+	Silent	SNP	T	T	G	rs1047416		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:51465226T>G	ENST00000374095.5	-	7	1355	c.1230A>C	c.(1228-1230)gcA>gcC	p.A410A		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		410	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTGGACCCATGCATCCCGCT	0.542																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(1228-1230)gcA>gcC		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7							19.0	24.0	22.0					10																	51465226		2172	4242	6414	SO:0001819	synonymous_variant	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465226T>G																												ENST00000374095.5:c.1230A>C	10.37:g.51465226T>G							p.A410A	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	1355	-			410			PH.		A6NGH4	Silent	SNP	ENST00000374095.5	37	c.1230A>C	CCDS41524.1																																																																																				0.542	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			8	768	0	0	0	1	0	8	768				
ZNF778	197320	broad.mit.edu	37	16	89294760	89294760	+	Silent	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr16:89294760G>A	ENST00000433976.2	+	6	2312	c.1980G>A	c.(1978-1980)ctG>ctA	p.L660L	ZNF778_ENST00000306502.6_Silent_p.L618L|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CCTCTCACCTGCATAAACATG	0.413																																						ENST00000433976.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(1978-1980)ctG>ctA		zinc finger protein 778							50.0	54.0	53.0					16																	89294760		2175	4292	6467	SO:0001819	synonymous_variant	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294760G>A	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1980G>A	16.37:g.89294760G>A						ZNF778_ENST00000306502.6_Silent_p.L618L|RP11-46C24.6_ENST00000563182.1_RNA	p.L660L	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	2312	+			660					Q08AG0	Silent	SNP	ENST00000433976.2	37	c.1980G>A	CCDS45550.1																																																																																				0.413	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		4	130	0	0	0	1	0	4	130				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR329-1_ENST00000385028.1_RNA|MIR1197_ENST00000408818.1_RNA|MIR758_ENST00000390227.1_RNA|MIR323A_ENST00000362199.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR380_ENST00000362112.2_RNA|MIR299_ENST00000385016.2_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			0							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		9	1085	0	0	0	1	0	9	1085				
FRG1	2483	broad.mit.edu	37	4	190874240	190874240	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr4:190874240C>G	ENST00000226798.4	+	4	499	c.277C>G	c.(277-279)Cct>Gct	p.P93A	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	93					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)		GGGCCCTAGTCCTCCAGAGCA	0.284																																						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.(277-279)Cct>Gct		FSHD region gene 1							10.0	11.0	11.0					4																	190874240		2018	4101	6119	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190874240C>G	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.277C>G	4.37:g.190874240C>G	ENSP00000226798:p.Pro93Ala					FRG1_ENST00000514482.1_3'UTR	p.P93A	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)	4	499	+		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)	93					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.277C>G	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	13.78	2.339615	0.41398	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.50001	1.98;0.76	3.71	3.71	0.42584	Actin cross-linking (1);	0.048339	0.85682	D	0.000000	T	0.52386	0.1731	M	0.83483	2.645	0.80722	D	1	B	0.27679	0.185	B	0.28916	0.096	T	0.59931	-0.7361	10	0.49607	T	0.09	-4.0846	13.8593	0.63550	0.0:1.0:0.0:0.0	.	93	Q14331	FRG1_HUMAN	A	93;30	ENSP00000226798:P93A;ENSP00000435943:P30A	ENSP00000226798:P93A	P	+	1	0	FRG1	191111234	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.060000	0.76692	2.022000	0.59522	0.632000	0.83419	CCT		0.284	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		5	195	0	0	0	1	0	5	195				
BRWD1	54014	broad.mit.edu	37	21	40578075	40578075	+	Silent	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr21:40578075C>T	ENST00000333229.2	-	37	4650	c.4323G>A	c.(4321-4323)cgG>cgA	p.R1441R	BRWD1_ENST00000342449.3_Silent_p.R1441R|BRWD1_ENST00000380800.3_Silent_p.R1441R	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TACAATTTTGCCGTTGCTTGA	0.333																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4321-4323)cgG>cgA		bromodomain and WD repeat domain containing 1							126.0	132.0	130.0					21																	40578075		2203	4300	6503	SO:0001819	synonymous_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40578075C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4323G>A	21.37:g.40578075C>T						BRWD1_ENST00000380800.3_Silent_p.R1441R|BRWD1_ENST00000333229.2_Silent_p.R1441R	p.R1441R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			37	4401	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1441					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.4323G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	3.068	-0.191810	0.06299	.	.	ENSG00000185658	ENST00000424441	.	.	.	4.87	-0.148	0.13424	.	.	.	.	.	T	0.35335	0.0928	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30387	-0.9980	4	.	.	.	-0.1605	10.6113	0.45423	0.0:0.4846:0.0:0.5154	.	.	.	.	T	379	.	.	A	-	1	0	BRWD1	39499945	0.027000	0.19231	0.359000	0.25824	0.641000	0.38312	0.013000	0.13310	-0.364000	0.08088	0.561000	0.74099	GCA		0.333	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		7	830	0	0	0	1	0	7	830				
ABHD6	57406	broad.mit.edu	37	3	58242348	58242348	+	Missense_Mutation	SNP	C	C	T	rs201561775	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr3:58242348C>T	ENST00000478253.1	+	3	536	c.35C>T	c.(34-36)gCg>gTg	p.A12V	ABHD6_ENST00000295962.4_Missense_Mutation_p.A12V			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	12					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		TTTGTGATTGCGGGCGGCACG	0.463													C|||	2	0.000399361	0.0	0.0	5008	,	,		19875	0.002		0.0	False		,,,				2504	0.0					ENST00000478253.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(34-36)gCg>gTg		abhydrolase domain containing 6							168.0	159.0	162.0					3																	58242348		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58242348C>T	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.35C>T	3.37:g.58242348C>T	ENSP00000420315:p.Ala12Val					ABHD6_ENST00000295962.4_Missense_Mutation_p.A12V	p.A12V			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	3	536	+			12					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.35C>T	CCDS2887.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	35	5.581975	0.96578	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	D;D;D;T	0.82081	-1.57;-1.57;-1.57;0.78	5.67	5.67	0.87782	.	0.046168	0.85682	D	0.000000	D	0.87920	0.6299	M	0.70595	2.14	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.54100	0.739;0.742	D	0.86721	0.1942	10	0.37606	T	0.19	-0.216	18.5426	0.91035	0.0:1.0:0.0:0.0	.	12;12	Q9BV23;F5H7L1	ABHD6_HUMAN;.	V	12	ENSP00000420315:A12V;ENSP00000295962:A12V;ENSP00000420408:A12V;ENSP00000418934:A12V	ENSP00000295962:A12V	A	+	2	0	ABHD6	58217388	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.021000	0.76425	2.682000	0.91365	0.484000	0.47621	GCG		0.463	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		5	286	0	0	0	1	0	5	286				
PPP1R13B	23368	broad.mit.edu	37	14	104205286	104205286	+	Silent	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr14:104205286C>T	ENST00000202556.9	-	13	2949	c.2667G>A	c.(2665-2667)ctG>ctA	p.L889L	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.L308L	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	889					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGAGCAGTGCCAGGGGGTTAA	0.602																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(2665-2667)ctG>ctA		protein phosphatase 1, regulatory subunit 13B							103.0	112.0	109.0					14																	104205286		2006	4184	6190	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104205286C>T	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2667G>A	14.37:g.104205286C>T						PPP1R13B_ENST00000423488.2_Silent_p.L308L|PPP1R13B_ENST00000555391.1_5'UTR	p.L889L	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			13	2949	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	889					B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.2667G>A	CCDS41997.1																																																																																				0.602	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		9	565	0	0	0	1	0	9	565				
MST1L	11223	broad.mit.edu	37	1	17083652	17083652	+	RNA	SNP	C	C	T	rs113710576		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:17083652C>T	ENST00000455405.2	-	0	936							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										aaatctcaaccttgagtacaa	0.388																																						ENST00000455405.2																			0																																																			0							g.chr1:17083652C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083652C>T														0	936	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.388	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		11	212	0	0	0	1	0	11	212				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			9	201	0	0	0	1	0	9	201				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			8	282	0	0	0	1	0	8	282				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	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		11	654	0	0	0	1	0	11	654				
ASTN1	460	broad.mit.edu	37	1	177133612	177133612	+	Silent	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:177133612G>A	ENST00000367654.3	-	1	412	c.201C>T	c.(199-201)ctC>ctT	p.L67L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.L67L|ASTN1_ENST00000367657.3_Silent_p.L67L|ASTN1_ENST00000361833.2_Silent_p.L67L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	67					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCACCGAGAAGAGGAGCTTGG	0.627																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(199-201)ctC>ctT		astrotactin 1							68.0	55.0	60.0					1																	177133612		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177133612G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.201C>T	1.37:g.177133612G>A						ASTN1_ENST00000367657.3_Silent_p.L67L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.L67L|ASTN1_ENST00000424564.2_Silent_p.L67L	p.L67L			O14525	ASTN1_HUMAN			1	214	-			67					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.201C>T																																																																																					0.627	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		42	84	0	0	0	1	0	42	84				
SIX2	10736	broad.mit.edu	37	2	45236176	45236176	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:45236176C>T	ENST00000303077.6	-	1	393	c.74G>A	c.(73-75)gGc>gAc	p.G25D		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	25					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G25V(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCGATGTTGCCGCCCTGCTG	0.682																																						ENST00000303077.6																			1	Substitution - Missense(1)	p.G25V(1)	lung(1)	endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(73-75)gGc>gAc		SIX homeobox 2							16.0	16.0	16.0					2																	45236176		2200	4295	6495	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45236176C>T	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.74G>A	2.37:g.45236176C>T	ENSP00000304502:p.Gly25Asp						p.G25D	NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN			1	393	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	25					Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.74G>A	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087238	0.76642	.	.	ENSG00000170577	ENST00000303077	D	0.90133	-2.62	4.25	3.33	0.38152	.	0.000000	0.85682	U	0.000000	D	0.94938	0.8363	H	0.94808	3.585	0.80722	D	1	P;P	0.52170	0.918;0.951	P;P	0.52598	0.558;0.703	D	0.95287	0.8391	10	0.87932	D	0	-18.7455	13.3425	0.60553	0.0:0.8395:0.1604:0.0	.	25;25	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	D	25	ENSP00000304502:G25D	ENSP00000304502:G25D	G	-	2	0	SIX2	45089680	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.675000	0.84002	0.706000	0.31912	0.462000	0.41574	GGC		0.682	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			4	95	0	0	0	1	0	4	95				
IMPACT	55364	broad.mit.edu	37	18	22008866	22008866	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr18:22008866C>T	ENST00000284202.4	+	3	340	c.199C>T	c.(199-201)Cca>Tca	p.P67S	Y_RNA_ENST00000362766.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	67	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AGGTACAGCTCCACCTATCTA	0.338																																						ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.(199-201)Cca>Tca		impact RWD domain protein							123.0	109.0	114.0					18																	22008866		2203	4300	6503	SO:0001583	missense	55364							g.chr18:22008866C>T	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.199C>T	18.37:g.22008866C>T	ENSP00000284202:p.Pro67Ser						p.P67S	NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			3	340	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		67			RWD.		A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.199C>T	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226131	0.39300	.	.	ENSG00000154059	ENST00000284202	T	0.26067	1.76	4.95	4.95	0.65309	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.65565	-0.6137	10	0.66056	D	0.02	.	17.304	0.87190	0.0:1.0:0.0:0.0	.	67	Q9P2X3	IMPCT_HUMAN	S	67	ENSP00000284202:P67S	ENSP00000284202:P67S	P	+	1	0	IMPACT	20262864	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.856000	0.69518	2.434000	0.82447	0.561000	0.74099	CCA		0.338	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		5	273	0	0	0	1	0	5	273				
CPSF1	29894	broad.mit.edu	37	8	145620126	145620126	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:145620126G>A	ENST00000349769.3	-	30	3479	c.3385C>T	c.(3385-3387)Cag>Tag	p.Q1129*	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1129					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCCTCCCCCTGCATGAGGCAG	0.667																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3385-3387)Cag>Tag		cleavage and polyadenylation specific factor 1, 160kDa							30.0	32.0	31.0					8																	145620126		2203	4300	6503	SO:0001587	stop_gained	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145620126G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3385C>T	8.37:g.145620126G>A	ENSP00000339353:p.Gln1129*						p.Q1129*	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		30	3479	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1129					Q96AF0	Nonsense_Mutation	SNP	ENST00000349769.3	37	c.3385C>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	42	9.181854	0.99092	.	.	ENSG00000071894	ENST00000349769	.	.	.	4.86	4.86	0.63082	.	0.139297	0.50627	D	0.000117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0483	13.8397	0.63430	0.0:0.0:1.0:0.0	.	.	.	.	X	1129	.	ENSP00000339353:Q1129X	Q	-	1	0	CPSF1	145590934	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.086000	0.76885	2.424000	0.82194	0.561000	0.74099	CAG		0.667	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		4	181	0	0	0	1	0	4	181				
PTCH1	5727	broad.mit.edu	37	9	98242854	98242854	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr9:98242854G>A	ENST00000331920.6	-	6	1062	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	PTCH1_ENST00000437951.1_Missense_Mutation_p.R189W|PTCH1_ENST00000375274.2_Missense_Mutation_p.R254W|PTCH1_ENST00000430669.2_Missense_Mutation_p.R189W|PTCH1_ENST00000421141.1_Missense_Mutation_p.R104W|PTCH1_ENST00000418258.1_Missense_Mutation_p.R104W|PTCH1_ENST00000429896.2_Missense_Mutation_p.R104W|PTCH1_ENST00000548379.1_5'UTR	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	255					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TTTGTCCACCGCAAAGGAGGT	0.458																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(565-567)Cgg>Tgg		patched 1							75.0	75.0	75.0					9																	98242854		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98242854G>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.763C>T	9.37:g.98242854G>A	ENSP00000332353:p.Arg255Trp					PTCH1_ENST00000437951.1_Missense_Mutation_p.R189W|PTCH1_ENST00000331920.6_Missense_Mutation_p.R255W|PTCH1_ENST00000418258.1_Missense_Mutation_p.R104W|PTCH1_ENST00000421141.1_Missense_Mutation_p.R104W|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000429896.2_Missense_Mutation_p.R104W|PTCH1_ENST00000375274.2_Missense_Mutation_p.R254W	p.R189W			Q13635	PTC1_HUMAN			6	1150	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	255					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.565C>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958524	0.74016	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820	D;D;D;D;D;D;D;D;D;D;D	0.90788	-2.71;-2.71;-2.69;-2.69;-2.71;-2.69;-2.73;-2.14;-2.14;-2.14;-2.14	5.88	4.97	0.65823	.	0.273612	0.42294	D	0.000724	D	0.92698	0.7679	L	0.50333	1.59	0.36534	D	0.870929	D;D;D	0.64830	0.987;0.994;0.991	P;P;P	0.58520	0.663;0.84;0.462	D	0.95163	0.8283	10	0.87932	D	0	-10.3087	16.4495	0.83974	0.0:0.0:0.8676:0.1323	.	189;254;255	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	W	255;189;104;104;189;104;254;104;104;104;104	ENSP00000332353:R255W;ENSP00000389744:R189W;ENSP00000399981:R104W;ENSP00000396135:R104W;ENSP00000410287:R189W;ENSP00000414823:R104W;ENSP00000364423:R254W;ENSP00000447797:R104W;ENSP00000447008:R104W;ENSP00000447878:R104W;ENSP00000448843:R104W	ENSP00000332353:R255W	R	-	1	2	PTCH1	97282675	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.317000	0.65822	1.471000	0.48121	0.655000	0.94253	CGG		0.458	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		5	344	0	0	0	1	0	5	344				
PRPF8	10594	broad.mit.edu	37	17	1556843	1556843	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:1556843C>T	ENST00000572621.1	-	38	6627	c.6362G>A	c.(6361-6363)cGg>cAg	p.R2121Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.R2121Q|PRPF8_ENST00000575116.1_5'UTR			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2121	MPN.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CACTTGGGCCCGAAGGTCAGA	0.463																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(6361-6363)cGg>cAg		pre-mRNA processing factor 8							103.0	88.0	93.0					17																	1556843		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1556843C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6362G>A	17.37:g.1556843C>T	ENSP00000460348:p.Arg2121Gln					PRPF8_ENST00000575116.1_5'UTR|PRPF8_ENST00000304992.6_Missense_Mutation_p.R2121Q	p.R2121Q			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	38	6627	-			2121			MPN.		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.6362G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	36	5.612941	0.96637	.	.	ENSG00000174231	ENST00000304992	T	0.63744	-0.06	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.83243	0.5212	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83107	-0.0125	10	0.36615	T	0.2	.	19.0085	0.92863	0.0:1.0:0.0:0.0	.	2121	Q6P2Q9	PRP8_HUMAN	Q	2121	ENSP00000304350:R2121Q	ENSP00000304350:R2121Q	R	-	2	0	PRPF8	1503593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.549000	0.82163	2.730000	0.93505	0.655000	0.94253	CGG		0.463	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			4	313	0	0	0	1	0	4	313				
MYO18B	84700	broad.mit.edu	37	22	26219533	26219533	+	Silent	SNP	C	C	T	rs567970076		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr22:26219533C>T	ENST00000407587.2	+	13	2752	c.2583C>T	c.(2581-2583)tgC>tgT	p.C861C	MYO18B_ENST00000335473.7_Silent_p.C861C|MYO18B_ENST00000536101.1_Silent_p.C861C			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	861	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCTGGGCTGCGAGTATGAGG	0.582																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2581-2583)tgC>tgT		myosin XVIIIB							121.0	122.0	122.0					22																	26219533		2078	4209	6287	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26219533C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2583C>T	22.37:g.26219533C>T						MYO18B_ENST00000407587.2_Silent_p.C861C|MYO18B_ENST00000536101.1_Silent_p.C861C	p.C861C	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			13	2833	+			861			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.2583C>T																																																																																					0.582	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		6	455	0	0	0	1	0	6	455				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			9	238	0	0	0	1	0	9	238				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	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		6	482	0	0	0	1	0	6	482				
GTPBP6	8225	broad.mit.edu	37	X	224472	224472	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chrX:224472G>A	ENST00000326153.4	-	4	513	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	401							GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGCAGGCCACGCAGCGTGGAC	0.677																																						ENST00000326153.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7						c.(514-516)Cgt>Tgt		GTP binding protein 6 (putative)			CYS/ARG	3,4079		0,3,2038	31.0	44.0	40.0		515	-0.7	0.0	X		40	0,8316		0,0,4158	no	missense	GTPBP6	NM_012227.2	180	0,3,6196	AA,AG,GG		0.0,0.0735,0.0242	probably-damaging	401/517	224472	3,12395	2041	4158	6199	SO:0001583	missense	8225					intracellular	GTP binding	g.chrX:224472G>A	Y14391	CCDS75943.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000178605	ENSG00000178605		"""Pseudoautosomal regions / PAR1"""	30189	protein-coding gene	gene with protein product	"""pseudoautosomal GTP binding protein-like"""	300124				9466997	Standard	XM_006724447		Approved	PGPL, FLJ20977	uc004cpe.1	O43824	OTTHUMG00000022694	ENST00000326153.4:c.514C>T	X.37:g.224472G>A	ENSP00000316598:p.Arg172Cys						p.R172C			O43824	GTPB6_HUMAN			4	513	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	401					Q53F77|Q5HYX8	Missense_Mutation	SNP	ENST00000326153.4	37	c.514C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.036|9.036	0.988431|0.988431	0.18966|0.18966	7.35E-4|7.35E-4	0.0|0.0	ENSG00000178605|ENSG00000178605	ENST00000400701|ENST00000326153	.|.	.|.	.|.	2.05|2.05	-0.684|-0.684	0.11331|0.11331	.|.	.|0.533858	.|0.18246	.|U	.|0.147085	T|T	0.51398|0.51398	0.1672|0.1672	.|.	.|.	.|.	.|0.28523	.|N	.|0.9129700000000001	.|D	.|0.89917	.|1.0	.|P	.|0.59703	.|0.862	T|T	0.56007|0.56007	-0.8050|-0.8050	3|7	.|0.56958	.|D	.|0.05	-6.8403|-6.8403	3.1342|3.1342	0.06434|0.06434	0.1893:0.0:0.329:0.4817|0.1893:0.0:0.329:0.4817	.|.	.|401	.|O43824	.|GTPB6_HUMAN	V|C	171|172	.|.	.|ENSP00000316598:R172C	A|R	-|-	2|1	0|0	GTPBP6|GTPBP6	164472|164472	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.016000|0.016000	0.09150|0.09150	2.336000|2.336000	0.43938|0.43938	0.053000|0.053000	0.16036|0.16036	0.164000|0.164000	0.16699|0.16699	GCG|CGT		0.677	GTPBP6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_012227		3	31	0	0	0	1	0	3	31				
CROCCP2	84809	broad.mit.edu	37	1	16959834	16959834	+	lincRNA	SNP	G	G	T	rs201123694	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:16959834G>T	ENST00000412962.1	-	0	23							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCCAGCTGCAGCGGGTCCCTT	0.642																																						ENST00000412962.1																			0																																																			0							g.chr1:16959834G>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959834G>T														0	23	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.642	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	44	1	0	0.248553	1	0.251254	5	44				
EPPK1	83481	broad.mit.edu	37	8	144944616	144944616	+	Missense_Mutation	SNP	G	G	A	rs373257586		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:144944616G>A	ENST00000525985.1	-	2	2877	c.2806C>T	c.(2806-2808)Cgg>Tgg	p.R936W				P58107	EPIPL_HUMAN	epiplakin 1	936						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCAGCAGCCGCACACCGCCC	0.711													G|||	1	0.000199681	0.0	0.0	5008	,	,		14805	0.001		0.0	False		,,,				2504	0.0					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2806-2808)Cgg>Tgg		epiplakin 1		G	TRP/ARG	1,4061		0,1,2030	11.0	14.0	13.0		2806	2.0	0.1	8		13	1,8323		0,1,4161	no	missense	EPPK1	NM_031308.1	101	0,2,6191	AA,AG,GG		0.012,0.0246,0.0161	possibly-damaging	936/2420	144944616	2,12384	2031	4162	6193	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144944616G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2806C>T	8.37:g.144944616G>A	ENSP00000436337:p.Arg936Trp						p.R936W			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2877	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		936					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.2806C>T		.	.	.	.	.	.	.	.	.	.	G	8.620	0.891090	0.17613	2.46E-4	1.2E-4	ENSG00000227184	ENST00000525985	T	0.72505	-0.66	4.8	1.98	0.26296	.	.	.	.	.	T	0.50718	0.1632	N	0.08118	0	0.09310	N	1	D	0.57571	0.98	P	0.45946	0.498	T	0.37888	-0.9686	9	0.35671	T	0.21	.	7.0541	0.25089	0.0834:0.0:0.6132:0.3034	.	936	E9PPU0	.	W	936	ENSP00000436337:R936W	ENSP00000436337:R936W	R	-	1	2	EPPK1	145016604	0.000000	0.05858	0.052000	0.19188	0.004000	0.04260	-0.526000	0.06207	0.223000	0.20920	-0.152000	0.13540	CGG		0.711	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	118	0	0	0	1	0	5	118				
DCST2	127579	broad.mit.edu	37	1	154996955	154996955	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:154996955C>T	ENST00000368424.3	-	11	1793	c.1735G>A	c.(1735-1737)Gcc>Acc	p.A579T	DCST2_ENST00000295536.5_Missense_Mutation_p.A579T	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	579						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACCGACTGGCCAGCACTAGG	0.562																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(1735-1737)Gcc>Acc		DC-STAMP domain containing 2							53.0	54.0	54.0					1																	154996955		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:154996955C>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1735G>A	1.37:g.154996955C>T	ENSP00000357409:p.Ala579Thr					DCST2_ENST00000295536.5_Missense_Mutation_p.A579T	p.A579T	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		11	1793	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		579					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.1735G>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673178	0.88445	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.25414	1.8;1.87	4.38	2.38	0.29361	.	0.262088	0.20104	U	0.099175	T	0.12178	0.0296	L	0.39245	1.2	0.19575	N	0.999961	D	0.63880	0.993	P	0.53649	0.731	T	0.07770	-1.0755	10	0.19590	T	0.45	-17.6357	6.3946	0.21605	0.1796:0.7219:0.0:0.0985	.	579	Q5T1A1	DCST2_HUMAN	T	579	ENSP00000357409:A579T;ENSP00000295536:A579T	ENSP00000295536:A579T	A	-	1	0	DCST2	153263579	0.807000	0.29009	0.861000	0.33841	0.806000	0.45545	1.012000	0.29924	1.049000	0.40321	0.462000	0.41574	GCC		0.562	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		5	290	0	0	0	1	0	5	290				
ADCY3	109	broad.mit.edu	37	2	25046089	25046089	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:25046089C>T	ENST00000260600.5	-	17	3723	c.2872G>A	c.(2872-2874)Gat>Aat	p.D958N	ADCY3_ENST00000405392.1_Missense_Mutation_p.D545N|RP11-443B20.1_ENST00000606114.1_RNA	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	958					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAGTCAAAATCTGAGATGATT	0.502																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2872-2874)Gat>Aat		adenylate cyclase 3							102.0	87.0	92.0					2																	25046089		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25046089C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2872G>A	2.37:g.25046089C>T	ENSP00000260600:p.Asp958Asn					ADCY3_ENST00000405392.1_Missense_Mutation_p.D545N	p.D958N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			17	3723	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		958					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2872G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	35	5.541066	0.96474	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.81415	-1.49;-1.49	5.55	5.55	0.83447	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	M	0.73217	2.22	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.937	D;D;P	0.97110	1.0;1.0;0.898	D	0.89800	0.3974	10	0.87932	D	0	.	19.2909	0.94098	0.0:1.0:0.0:0.0	.	959;958;545	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	N	958;545;933	ENSP00000260600:D958N;ENSP00000384484:D545N	ENSP00000260600:D958N	D	-	1	0	ADCY3	24899593	1.000000	0.71417	0.779000	0.31741	0.978000	0.69477	7.604000	0.82830	2.894000	0.99253	0.655000	0.94253	GAT		0.502	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			10	107	0	0	0	1	0	10	107				
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469). {ECO:0000305}.	transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393																																						ENST00000300619.7																			1	Substitution - Missense(1)	p.R333H(1)	large_intestine(1)								c.(997-999)cGt>cAt		zinc finger protein 91							72.0	76.0	75.0					19																	23544783		2120	4254	6374	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544783C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.998G>A	19.37:g.23544783C>T	ENSP00000300619:p.Arg333His					ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	p.R333H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1203	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	333	R -> H (in Ref. 1; AAA59469).				A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.998G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075438	0.08485	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17854	2.25;2.25	1.97	-3.94	0.04130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07279	0.0184	N	0.20845	0.615	0.09310	N	1	P;D	0.61080	0.566;0.989	B;B	0.41988	0.043;0.372	T	0.25257	-1.0137	9	0.14252	T	0.57	.	3.5074	0.07696	0.1773:0.4543:0.0:0.3684	rs410211	301;333	Q05481-2;Q05481	.;ZNF91_HUMAN	H	333;301	ENSP00000300619:R333H;ENSP00000380272:R301H	ENSP00000300619:R333H	R	-	2	0	ZNF91	23336623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.928000	0.03761	0.162000	0.16502	CGT		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		6	592	0	0	0	1	0	6	592				
GOLGA6B	55889	broad.mit.edu	37	15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C	rs201618622	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351						Golgi apparatus (GO:0005794)		p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562													t|||	142	0.0283546	0.0159	0.0274	5008	,	,		15500	0.0258		0.0249	False		,,,				2504	0.0521					ENST00000421285.3																			4	Substitution - Missense(4)	p.V351A(4)	skin(2)|lung(1)|endometrium(1)	NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1051-1053)gTg>gCg		golgin A6 family, member B							81.0	81.0	81.0					15																	72954797		2063	3889	5952	SO:0001583	missense	55889							g.chr15:72954797T>C		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1052T>C	15.37:g.72954797T>C	ENSP00000408132:p.Val351Ala						p.V351A	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			11	1052	+			351					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.1052T>C	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.612	-0.824760	0.02755	.	.	ENSG00000215186	ENST00000421285	T	0.21031	2.03	0.372	0.372	0.16173	.	.	.	.	.	T	0.07143	0.0181	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.27082	T	0.32	.	4.8248	0.13410	0.0:0.7182:0.0:0.2818	.	351	A6NDN3	GOG6B_HUMAN	A	351	ENSP00000408132:V351A	ENSP00000408132:V351A	V	+	2	0	GOLGA6B	70741851	0.000000	0.05858	0.144000	0.22314	0.053000	0.15095	-2.065000	0.01386	-1.296000	0.02353	-1.896000	0.00531	GTG		0.562	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		6	348	0	0	0	1	0	6	348				
EDEM2	55741	broad.mit.edu	37	20	33722547	33722547	+	Silent	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr20:33722547G>A	ENST00000374492.3	-	6	801	c.696C>T	c.(694-696)atC>atT	p.I232I	EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000540582.1_Silent_p.I191I|EDEM2_ENST00000374491.3_Silent_p.I195I	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	232					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTACCAGCCCGATATCTGACC	0.562																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(571-573)atC>atT		ER degradation enhancer, mannosidase alpha-like 2							78.0	73.0	75.0					20																	33722547		2203	4300	6503	SO:0001819	synonymous_variant	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33722547G>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.696C>T	20.37:g.33722547G>A						EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374492.3_Silent_p.I232I|EDEM2_ENST00000374491.2_Silent_p.I195I|EDEM2_ENST00000541621.1_5'UTR	p.I191I			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		10	1294	-			232					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Silent	SNP	ENST00000374492.3	37	c.573C>T	CCDS13247.1																																																																																				0.562	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		18	241	0	0	0	1	0	18	241				
KMT2D	8085	broad.mit.edu	37	12	49440044	49440044	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr12:49440044G>A	ENST00000301067.7	-	16	4581	c.4582C>T	c.(4582-4584)Cgg>Tgg	p.R1528W		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1528					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)										TGTTCTCACCGTTCACAGTGG	0.547																																						ENST00000301067.7																			0											c.e16+1		lysine (K)-specific methyltransferase 2D							62.0	71.0	68.0					12																	49440044		2166	4276	6442	SO:0001630	splice_region_variant	8085							g.chr12:49440044G>A	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.4583+1C>T	12.37:g.49440044G>A							p.R1528_splice	NM_003482.3	NP_003473.3					16	4581	-								O14687	Splice_Site	SNP	ENST00000301067.7	37	c.4583_splice	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630341	0.28978	.	.	ENSG00000167548	ENST00000301067	T	0.64991	-0.13	5.22	4.3	0.51218	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.35096	N	0.003457	T	0.79118	0.4392	M	0.82517	2.595	0.48696	D	0.999697	D	0.89917	1.0	D	0.91635	0.999	T	0.81595	-0.0861	10	0.87932	D	0	.	11.8112	0.52183	0.0:0.0:0.6812:0.3188	.	1528	O14686	MLL2_HUMAN	W	1528	ENSP00000301067:R1528W	ENSP00000301067:R1528W	R	-	1	2	MLL2	47726311	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.272000	0.51616	1.154000	0.42482	0.655000	0.94253	CGG		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Missense_Mutation	4	195	0	0	0	1	0	4	195				
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000302182.3_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115.0	112.0	113.0					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		6	653	0	0	0	1	0	6	653				
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507																																						ENST00000379485.1																			7	Substitution - Missense(7)	p.T403K(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1207-1209)aCa>aAa		kelch repeat and BTB (POZ) domain containing 6							112.0	104.0	107.0					13																	41705440		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705440G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys					KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	p.T403K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1442	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1208C>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA		0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		6	588	1	0	7.03913e-09	1	7.52458e-09	6	588				
TRPM2	7226	broad.mit.edu	37	21	45798964	45798964	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr21:45798964G>A	ENST00000397928.1	+	8	1544	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	TRPM2_ENST00000397932.2_Missense_Mutation_p.A367T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A367T|TRPM2_ENST00000300481.9_Missense_Mutation_p.A367T|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	367					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCCCAGGTGGCCAACCTGCC	0.597																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1099-1101)Gcc>Acc		transient receptor potential cation channel, subfamily M, member 2							105.0	80.0	89.0					21																	45798964		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45798964G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1099G>A	21.37:g.45798964G>A	ENSP00000381023:p.Ala367Thr					TRPM2_ENST00000300482.5_Missense_Mutation_p.A367T|TRPM2_ENST00000300481.9_Missense_Mutation_p.A367T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.A367T	p.A367T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			8	1544	+			367					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1099G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765205	0.31228	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	3.84	2.94	0.34122	.	0.128055	0.52532	D	0.000070	T	0.56381	0.1981	M	0.72118	2.19	0.58432	D	0.999993	D;D	0.71674	0.998;0.998	P;P	0.62885	0.908;0.758	T	0.54111	-0.8342	10	0.22706	T	0.39	-29.9005	12.5864	0.56421	0.0:0.0:0.8325:0.1675	.	367;367	E9PGK7;O94759	.;TRPM2_HUMAN	T	367	ENSP00000300482:A367T;ENSP00000381023:A367T;ENSP00000300481:A367T;ENSP00000381026:A367T	ENSP00000300481:A367T	A	+	1	0	TRPM2	44623392	1.000000	0.71417	0.955000	0.39395	0.174000	0.22865	5.782000	0.68973	0.799000	0.34018	0.563000	0.77884	GCC		0.597	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		5	273	0	0	0	1	0	5	273				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		5	352	0	0	0	1	0	5	352				
OR12D2	26529	broad.mit.edu	37	6	29365088	29365088	+	Silent	SNP	T	T	C			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:29365088T>C	ENST00000383555.2	+	1	673	c.612T>C	c.(610-612)atT>atC	p.I204I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CGGGGACAATTGCCATGGGCC	0.443																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(610-612)atT>atC		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							158.0	161.0	160.0					6																	29365088		1511	2709	4220	SO:0001819	synonymous_variant	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365088T>C		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.612T>C	6.37:g.29365088T>C						OR5V1_ENST00000377154.1_Intron	p.I204I	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	673	+			204					B0S862|Q5SUN9|Q6IET9	Silent	SNP	ENST00000383555.2	37	c.612T>C	CCDS4659.1																																																																																				0.443	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			9	664	0	0	0	1	0	9	664				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		12	430	0	0	0	1	0	12	430				
UBC	7316	broad.mit.edu	37	12	125396503	125396503	+	Silent	SNP	G	G	A	rs6657	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr12:125396503G>A	ENST00000538617.1	-	4	991	c.675C>T	c.(673-675)ctC>ctT	p.L225L	UBC_ENST00000546120.1_Silent_p.L529L|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Silent_p.L605L|UBC_ENST00000536769.1_Silent_p.L605L			P0CG48	UBC_HUMAN	ubiquitin C	605	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.L605L(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.537																																						ENST00000536769.1																			1	Substitution - coding silent(1)	p.L605L(1)	prostate(1)	breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1813-1815)ctC>ctT		ubiquitin C							107.0	67.0	81.0					12																	125396503		2200	4279	6479	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125396503G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.675C>T	12.37:g.125396503G>A						UBC_ENST00000339647.5_Silent_p.L605L|UBC_ENST00000538617.1_Silent_p.L225L|UBC_ENST00000546120.1_Silent_p.L529L	p.L605L			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	3391	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		605			Ubiquitin-like 8.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.1815C>T																																																																																					0.537	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		9	714	0	0	0	1	0	9	714				
XYLT2	64132	broad.mit.edu	37	17	48437468	48437468	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:48437468G>A	ENST00000017003.2	+	11	2463	c.2414G>A	c.(2413-2415)gGc>gAc	p.G805D	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	805					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CAGCTCACAGGCCCTGCGCTC	0.657																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(2413-2415)gGc>gAc		xylosyltransferase II							56.0	46.0	49.0					17																	48437468		2203	4300	6503	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48437468G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.2414G>A	17.37:g.48437468G>A	ENSP00000017003:p.Gly805Asp					XYLT2_ENST00000507602.1_Intron	p.G805D	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			11	2463	+	Breast(11;7.18e-19)		805					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.2414G>A	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845279	0.51164	.	.	ENSG00000015532	ENST00000017003	T	0.06687	3.27	4.99	4.99	0.66335	.	0.050322	0.85682	D	0.000000	T	0.22975	0.0555	M	0.69358	2.11	0.80722	D	1	P	0.51653	0.947	P	0.54431	0.752	T	0.00430	-1.1744	10	0.87932	D	0	-27.8691	18.4802	0.90808	0.0:0.0:1.0:0.0	.	805	Q9H1B5	XYLT2_HUMAN	D	805	ENSP00000017003:G805D	ENSP00000017003:G805D	G	+	2	0	XYLT2	45792467	1.000000	0.71417	0.216000	0.23742	0.021000	0.10359	7.462000	0.80851	2.586000	0.87340	0.655000	0.94253	GGC		0.657	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		5	155	0	0	0	1	0	5	155				
LRP2BP	55805	broad.mit.edu	37	4	186298198	186298198	+	Intron	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr4:186298198C>T	ENST00000328559.7	-	2	918				LRP2BP_ENST00000505916.1_Intron|LRP2BP_ENST00000510776.1_Start_Codon_SNP_p.M1I|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000362004.3_Intron	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein							cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TAAGGAATTCCATCAACCACA	0.358																																						ENST00000510776.1																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15						c.(1-3)atG>atA		LRP2 binding protein							60.0	57.0	58.0					4																	186298198		2202	4300	6502	SO:0001627	intron_variant	55805					cytoplasm	protein binding	g.chr4:186298198C>T	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.107-26G>A	4.37:g.186298198C>T						LRP2BP_ENST00000362004.3_Intron|LRP2BP_ENST00000328559.7_Intron|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Intron	p.M1I			Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	1	1974	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	0					A6NJR7|A7E219|B3KX83|Q9NSN6	Translation_Start_Site	SNP	ENST00000328559.7	37	c.3G>A	CCDS3840.1	.	.	.	.	.	.	.	.	.	.	C	8.633	0.894030	0.17613	.	.	ENSG00000109771	ENST00000510776	T	0.40476	1.03	5.08	-1.25	0.09405	.	.	.	.	.	T	0.23806	0.0576	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24512	-1.0158	7	.	.	.	.	8.723	0.34452	0.0:0.3862:0.0:0.6138	.	1	G5E9Z9	.	I	1	ENSP00000424610:M1I	.	M	-	3	0	LRP2BP	186535192	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.015000	0.03637	-0.167000	0.10871	0.655000	0.94253	ATG		0.358	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		47	90	0	0	0	1	0	47	90				
DENND4C	55667	broad.mit.edu	37	9	19316732	19316732	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr9:19316732C>T	ENST00000380432.2	+	8	1027	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	DENND4C_ENST00000602925.1_Missense_Mutation_p.R568C|DENND4C_ENST00000434457.2_Missense_Mutation_p.R568C			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	332	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGCATTTTTGCGCTTTATGGC	0.413																																						ENST00000380432.2																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(994-996)Cgc>Tgc		DENN/MADD domain containing 4C							121.0	135.0	130.0					9																	19316732		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19316732C>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.994C>T	9.37:g.19316732C>T	ENSP00000369797:p.Arg332Cys					DENND4C_ENST00000434457.2_Missense_Mutation_p.R568C|DENND4C_ENST00000602925.1_Missense_Mutation_p.R568C|DENND4C_ENST00000307015.9_5'UTR	p.R332C	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN			8	1027	+			332			dDENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.994C>T		.	.	.	.	.	.	.	.	.	.	C	16.61	3.169940	0.57584	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.98	4.98	0.66077	dDENN (3);	0.101382	0.64402	D	0.000001	D	0.83686	0.5308	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84288	0.0498	9	0.42905	T	0.14	-8.6552	18.4491	0.90696	0.0:1.0:0.0:0.0	.	332	Q5VZ89	DEN4C_HUMAN	C	332	.	ENSP00000369802:R332C	R	+	1	0	DENND4C	19306732	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.599000	0.82757	2.592000	0.87571	0.460000	0.39030	CGC		0.413	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		7	599	0	0	0	1	0	7	599				
GLI2	2736	broad.mit.edu	37	2	121726395	121726395	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:121726395G>A	ENST00000452319.1	+	6	809	c.749G>A	c.(748-750)cGc>cAc	p.R250H	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R250H|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGGATGATCCGCACCTCACCC	0.667																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(748-750)cGc>cAc		GLI family zinc finger 2							79.0	71.0	74.0					2																	121726395		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121726395G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.749G>A	2.37:g.121726395G>A	ENSP00000390436:p.Arg250His					GLI2_ENST00000361492.4_Missense_Mutation_p.R250H|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR	p.R250H			P10070	GLI2_HUMAN			6	809	+	Renal(3;0.0496)	Prostate(154;0.0623)	250						Missense_Mutation	SNP	ENST00000452319.1	37	c.749G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389944	0.95988	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.70631	-0.5;-0.5	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.86493	0.5946	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.88909	0.3358	10	0.87932	D	0	.	18.2868	0.90117	0.0:0.0:1.0:0.0	.	250;250	P10070;Q0VGA0	GLI2_HUMAN;.	H	250	ENSP00000390436:R250H;ENSP00000354586:R250H	ENSP00000354586:R250H	R	+	2	0	GLI2	121442865	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.601000	0.98297	2.557000	0.86248	0.655000	0.94253	CGC		0.667	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		5	275	0	0	0	1	0	5	275				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	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		10	647	0	0	0	1	0	10	647				
CFTR	1080	broad.mit.edu	37	7	117188877	117188877	+	Splice_Site	SNP	G	G	T	rs397508198		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr7:117188877G>T	ENST00000003084.6	+	10	1524	c.1392G>T	c.(1390-1392)aaG>aaT	p.K464N	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	464	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAGCAGGCAAGGTAGTTCTTT	0.373									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	GRCh37	CM034784	CFTR	M		c.e10+1		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						37.0	37.0	37.0					7																	117188877		2203	4299	6502	SO:0001630	splice_region_variant	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117188877G>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1392+1G>T	7.37:g.117188877G>T						CFTR_ENST00000454343.1_Intron	p.K464_splice	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		10	1524	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		464			ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Splice_Site	SNP	ENST00000003084.6	37	c.1392_splice	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527048	0.64860	.	.	ENSG00000001626	ENST00000003084;ENST00000426809	D;D	0.98926	-5.24;-5.24	4.85	4.85	0.62838	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99513	0.9826	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97912	1.0309	10	0.87932	D	0	-17.2567	18.3148	0.90217	0.0:0.0:1.0:0.0	.	464	P13569	CFTR_HUMAN	N	464;434	ENSP00000003084:K464N;ENSP00000389119:K434N	ENSP00000003084:K464N	K	+	3	2	CFTR	116976113	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.920000	0.70017	2.395000	0.81488	0.650000	0.86243	AAG		0.373	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	Missense_Mutation	5	199	1	0	0.00010058	1	0.000106295	5	199				
ETV3L	440695	broad.mit.edu	37	1	157068573	157068573	+	Silent	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:157068573C>T	ENST00000454449.2	-	3	695	c.411G>A	c.(409-411)ccG>ccA	p.P137P		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	137					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGGGGATGGCGGCGCCCGCA	0.592																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(409-411)ccG>ccA		ets variant 3-like							62.0	68.0	66.0					1																	157068573		2203	4300	6503	SO:0001819	synonymous_variant	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068573C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.411G>A	1.37:g.157068573C>T							p.P137P	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			3	695	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	137						Silent	SNP	ENST00000454449.2	37	c.411G>A	CCDS30893.1																																																																																				0.592	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		6	336	0	0	0	1	0	6	336				
TICAM2	353376	broad.mit.edu	37	5	114916434	114916434	+	Missense_Mutation	SNP	G	G	A	rs200077419		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr5:114916434G>A	ENST00000427199.2	-	2	961	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	TMED7-TICAM2_ENST00000333314.3_3'UTR|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.R343W|TICAM2_ENST00000513729.1_5'Flank|TICAM2_ENST00000408996.4_Missense_Mutation_p.R343W	NM_021649.6	NP_067681.1	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	174	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to lipopolysaccharide (GO:0071222)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18-mediated signaling pathway (GO:2000494)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|response to interleukin-12 (GO:0070671)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		TTCAGGGGCCGCATGGGTATA	0.438																																						ENST00000408996.4																			0				cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5						c.(1027-1029)Cgg>Tgg		toll-like receptor adaptor molecule 2							76.0	83.0	81.0					5																	114916434		2202	4300	6502	SO:0001583	missense	353376							g.chr5:114916434G>A	AY232653	CCDS4119.1	5q22.3	2012-11-21			ENSG00000243414	ENSG00000243414			21354	protein-coding gene	gene with protein product		608321					Standard	NM_021649		Approved	TRAM, TICAM-2, TIRP		Q86XR7	OTTHUMG00000162905	ENST00000427199.2:c.520C>T	5.37:g.114916434G>A	ENSP00000415139:p.Arg174Trp					TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000427199.2_Missense_Mutation_p.R174W|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.R343W	p.R343W	NM_001164468.2|NM_001164469.2	NP_001157940.1|NP_001157941.1				OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)	4	1413	-		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)						B3Y698|Q6JUT2	Missense_Mutation	SNP	ENST00000427199.2	37	c.1027C>T	CCDS4119.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101998	0.76983	.	.	ENSG00000243414;ENSG00000243414;ENSG00000251201	ENST00000408996;ENST00000427199;ENST00000282382	T;T;T	0.50548	0.74;0.74;0.74	5.92	3.94	0.45596	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.53938	D	0.000049	T	0.53916	0.1826	L	0.29908	0.895	0.33446	D	0.582977	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.65084	-0.6254	10	0.52906	T	0.07	.	11.0018	0.47611	0.0:0.0:0.5283:0.4717	.	343;174	Q6JUT2;Q86XR7	.;TCAM2_HUMAN	W	343;174;343	ENSP00000386341:R343W;ENSP00000415139:R174W;ENSP00000282382:R343W	ENSP00000415139:R174W	R	-	1	2	TICAM2;TMED7-TICAM2	114944333	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.029000	0.41098	1.470000	0.48102	0.585000	0.79938	CGG		0.438	TICAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338755.1	NM_021649		6	503	0	0	0	1	0	6	503				
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																						ENST00000327064.4																			2	Substitution - Missense(2)	p.A202V(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(604-606)gCc>gTc		coactivator-associated arginine methyltransferase 1							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	795	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		9	898	0	0	0	1	0	9	898				
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K43N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(127-129)aaA>aaT																																						SO:0001583	missense	0							g.chr20:29625885A>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.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N	p.K43N							5	509	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.129A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		14	663	0	0	0	1	0	14	663				
CDK12	51755	broad.mit.edu	37	17	37650878	37650878	+	Silent	SNP	C	C	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:37650878C>A	ENST00000447079.4	+	5	2383	c.2350C>A	c.(2350-2352)Cga>Aga	p.R784R	CDK12_ENST00000430627.2_Silent_p.R784R	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	784	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GTTAatccaccgaagtgttgt	0.403			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(2350-2352)Cga>Aga		cyclin-dependent kinase 12							69.0	61.0	64.0					17																	37650878		2203	4300	6503	SO:0001819	synonymous_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37650878C>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2350C>A	17.37:g.37650878C>A		TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Silent_p.R784R	p.R784R	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			5	2383	+			784			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.2350C>A	CCDS11337.1																																																																																				0.403	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		5	131	1	0	0.014758	1	0.0152499	5	131				
MAGI1	9223	broad.mit.edu	37	3	65425588	65425588	+	Silent	SNP	C	C	T	rs374381483|rs139785185		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr3:65425588C>T	ENST00000497477.2	-	9	1235	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q412Q|MAGI1_ENST00000330909.8_Silent_p.Q412Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	412	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgttgctgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1234-1236)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1		C	,,	0,4386		0,0,2193	59.0	59.0	59.0		1236,1236,1236	-0.3	0.1	3	dbSNP_134	59	6,8526		0,6,4260	no	coding-synonymous,coding-synonymous,coding-synonymous	MAGI1	NM_001033057.1,NM_004742.2,NM_015520.1	,,	0,6,6453	TT,TC,CC		0.0703,0.0,0.0464	,,	412/1463,412/1257,412/1288	65425588	6,12912	2193	4266	6459	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425588C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1236G>A	3.37:g.65425588C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000497477.2_Silent_p.Q412Q|MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000402939.2_Silent_p.Q412Q|MAGI1_ENST00000470990.1_5'UTR	p.Q412Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1235	-		Lung NSC(201;0.0016)	412			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1236G>A		.	.	.	.	.	.	.	.	.	.	C	1.644	-0.515844	0.04200	0.0	7.03E-4	ENSG00000151276	ENST00000460329	.	.	.	2.7	-0.305	0.12784	.	.	.	.	.	T	0.50222	0.1603	.	.	.	0.47511	D	0.999444	.	.	.	.	.	.	T	0.34675	-0.9819	4	.	.	.	.	4.9509	0.14013	0.0:0.4601:0.2291:0.3109	.	.	.	.	N	293	.	.	S	-	2	0	MAGI1	65400628	0.923000	0.31300	0.067000	0.19924	0.012000	0.07955	0.342000	0.19926	-0.240000	0.09696	-0.808000	0.03180	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		6	219	0	0	0	1	0	6	219				
POLR1A	25885	broad.mit.edu	37	2	86272753	86272753	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:86272753C>T	ENST00000263857.6	-	20	3251	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D	POLR1A_ENST00000409681.1_Missense_Mutation_p.G958D			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	958					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGGTTTGATGCCGGTGAGGAA	0.512																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(2872-2874)gGc>gAc		polymerase (RNA) I polypeptide A, 194kDa							80.0	92.0	88.0					2																	86272753		1909	4134	6043	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86272753C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2873G>A	2.37:g.86272753C>T	ENSP00000263857:p.Gly958Asp					POLR1A_ENST00000409681.1_Missense_Mutation_p.G958D	p.G958D			O95602	RPA1_HUMAN			20	3251	-			958					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.2873G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036329	0.75617	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	D;D	0.94862	-3.54;-3.54	5.71	5.71	0.89125	RNA polymerase Rpb1, domain 5 (1);	0.053139	0.85682	D	0.000000	D	0.98422	0.9475	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99486	1.0949	10	0.87932	D	0	-25.7735	18.0404	0.89317	0.0:1.0:0.0:0.0	.	958	O95602	RPA1_HUMAN	D	958	ENSP00000263857:G958D;ENSP00000386300:G958D	ENSP00000263857:G958D	G	-	2	0	POLR1A	86126264	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.126000	0.77201	2.710000	0.92621	0.655000	0.94253	GGC		0.512	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		6	429	0	0	0	1	0	6	429				
CPD	1362	broad.mit.edu	37	17	28772820	28772820	+	Silent	SNP	A	A	G			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:28772820A>G	ENST00000225719.4	+	12	2731	c.2655A>G	c.(2653-2655)aaA>aaG	p.K885K	CPD_ENST00000543464.2_Silent_p.K638K	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	885	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGAAAGGAAAAGGGGCTAGCA	0.413																																						ENST00000225719.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(2653-2655)aaA>aaG		carboxypeptidase D							57.0	55.0	56.0					17																	28772820		2203	4300	6503	SO:0001819	synonymous_variant	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28772820A>G	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2655A>G	17.37:g.28772820A>G						CPD_ENST00000543464.2_Silent_p.K638K	p.K885K	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN			12	2731	+			885			Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	c.2655A>G	CCDS11257.1																																																																																				0.413	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		4	266	0	0	0	1	0	4	266				
VCL	7414	broad.mit.edu	37	10	75854102	75854102	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:75854102A>G	ENST00000211998.4	+	11	1520	c.1426A>G	c.(1426-1428)Aaa>Gaa	p.K476E	VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.K476E	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	476	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCTGCAGACCAAAACCAACCG	0.562																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(1426-1428)Aaa>Gaa		vinculin							53.0	49.0	50.0					10																	75854102		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75854102A>G	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1426A>G	10.37:g.75854102A>G	ENSP00000211998:p.Lys476Glu					VCL_ENST00000372755.3_Missense_Mutation_p.K476E|VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron	p.K476E	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			11	1520	+	Prostate(51;0.0112)		476			3 X 112 AA tandem repeats.|N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.1426A>G	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193805	0.78902	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.36340	1.26;1.26;1.26	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	M	0.69823	2.125	0.80722	D	1	D;D;D	0.63880	0.993;0.983;0.959	D;P;P	0.74023	0.982;0.822;0.755	T	0.53711	-0.8400	10	0.08381	T	0.77	.	15.7613	0.78082	1.0:0.0:0.0:0.0	.	403;476;476	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	E	476;476;383;403;148	ENSP00000361841:K476E;ENSP00000211998:K476E;ENSP00000415489:K148E	ENSP00000211998:K476E	K	+	1	0	VCL	75524108	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.905000	0.92613	2.126000	0.65437	0.529000	0.55759	AAA		0.562	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		12	152	0	0	0	1	0	12	152				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	11	0	0	0	1	0	4	11				
PI4KA	5297	broad.mit.edu	37	22	21067590	21067590	+	Silent	SNP	C	C	T	rs2539909		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr22:21067590C>T	ENST00000572273.1	-	48	5606	c.5376G>A	c.(5374-5376)aaG>aaA	p.K1792K	PI4KA_ENST00000414196.3_Silent_p.K602K|PI4KA_ENST00000255882.6_Silent_p.K1850K			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1792	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.|Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity. {ECO:0000250}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CGTCTCCCACCTTGAAGATGG	0.662																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(5548-5550)aaG>aaA		phosphatidylinositol 4-kinase, catalytic, alpha							31.0	22.0	25.0					22																	21067590		2201	4295	6496	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21067590C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5376G>A	22.37:g.21067590C>T						PI4KA_ENST00000414196.3_Silent_p.K602K|PI4KA_ENST00000572273.1_Silent_p.K1792K	p.K1850K	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		48	5636	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1792			PI3K/PI4K.		Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.5550G>A																																																																																					0.662	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		4	63	0	0	0	1	0	4	63				
FAM104B	90736	broad.mit.edu	37	X	55172596	55172596	+	Intron	SNP	C	C	G			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chrX:55172596C>G	ENST00000358460.4	-	3	405				FAM104B_ENST00000425133.2_Missense_Mutation_p.G91A|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000489298.1_Missense_Mutation_p.G89A|FAM104B_ENST00000477847.2_Missense_Mutation_p.G87A|FAM104B_ENST00000472571.2_3'UTR			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B											endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGAGTAAAGACCTTGGCATGG	0.483																																						ENST00000425133.2																			0				endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(271-273)gGt>gCt		family with sequence similarity 104, member B							91.0	76.0	81.0					X																	55172596		2203	4298	6501	SO:0001627	intron_variant	90736							g.chrX:55172596C>G	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+17G>C	X.37:g.55172596C>G						FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Missense_Mutation_p.G87A|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.G89A	p.G91A	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			3	310	-			0					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	c.272G>C	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	c	15.37	2.812822	0.50527	.	.	ENSG00000182518	ENST00000425133;ENST00000477847;ENST00000489298	T;T;T	0.52295	0.67;0.67;0.67	1.6	1.6	0.23607	.	.	.	.	.	T	0.51941	0.1704	L	0.34521	1.04	0.09310	N	1	D	0.71674	0.998	D	0.76071	0.987	T	0.30060	-0.9991	9	0.62326	D	0.03	.	6.0913	0.19995	0.0:1.0:0.0:0.0	.	91	Q5XKR9-3	.	A	91;87;89	ENSP00000397188:G91A;ENSP00000421161:G87A;ENSP00000423164:G89A	ENSP00000397188:G91A	G	-	2	0	FAM104B	55189321	1.000000	0.71417	0.092000	0.20876	0.386000	0.30323	2.344000	0.44010	1.084000	0.41184	0.436000	0.28706	GGT		0.483	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		4	153	0	0	0	1	0	4	153				
OR2G3	81469	broad.mit.edu	37	1	247769306	247769306	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:247769306T>A	ENST00000320002.2	+	1	451	c.419T>A	c.(418-420)cTt>cAt	p.L140H	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AACCCACGGCTTTGCCAACAG	0.507																																						ENST00000320002.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50						c.(418-420)cTt>cAt		olfactory receptor, family 2, subfamily G, member 3							182.0	169.0	173.0					1																	247769306		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769306T>A	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.419T>A	1.37:g.247769306T>A	ENSP00000326301:p.Leu140His					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.L140H	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	451	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		140					B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.419T>A	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	T	7.541	0.660612	0.14645	.	.	ENSG00000177476	ENST00000320002	T	0.00241	8.46	3.8	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.889887	0.08762	U	0.897639	T	0.00552	0.0018	M	0.82923	2.615	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.51244	-0.8730	10	0.72032	D	0.01	.	6.5239	0.22291	0.3928:0.0:0.0:0.6072	.	140	Q8NGZ4	OR2G3_HUMAN	H	140	ENSP00000326301:L140H	ENSP00000326301:L140H	L	+	2	0	OR2G3	245835929	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.165000	0.09968	0.605000	0.29947	-0.731000	0.03576	CTT		0.507	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			115	417	0	0	0	1	0	115	417				
MUC16	94025	broad.mit.edu	37	19	9059381	9059381	+	Silent	SNP	G	G	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr19:9059381G>T	ENST00000397910.4	-	3	28268	c.28065C>A	c.(28063-28065)acC>acA	p.T9355T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9357	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTGAGGGGGGTAGAAATTC	0.507																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28063-28065)acC>acA		mucin 16, cell surface associated							154.0	151.0	152.0					19																	9059381		1929	4139	6068	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059381G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28065C>A	19.37:g.9059381G>T							p.T9355T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28268	-			9357			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.28065C>A	CCDS54212.1																																																																																				0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		42	405	1	0	2.66277e-13	1	2.91338e-13	42	405				
CEACAM5	1048	broad.mit.edu	37	19	42225061	42225061	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr19:42225061G>A	ENST00000221992.6	+	8	2105	c.1991G>A	c.(1990-1992)cGc>cAc	p.R664H	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R664H|CEACAM5_ENST00000398599.4_Missense_Mutation_p.R663H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	664	Ig-like 7.		R -> S (in dbSNP:rs10423171).		homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GCTACTGGCCGCAATAATTCC	0.473																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1990-1992)cGc>cAc		carcinoembryonic antigen-related cell adhesion molecule 5							128.0	110.0	116.0					19																	42225061		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42225061G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1991G>A	19.37:g.42225061G>A	ENSP00000221992:p.Arg664His					CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.R663H|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R664H	p.R664H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	2105	+			664		R -> S (in dbSNP:rs10423171).	Ig-like 7.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1991G>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826969	0.32329	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	T;T	0.12361	2.69;2.69	2.44	1.38	0.22167	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15998	0.0385	L	0.31207	0.915	0.09310	N	1	D;D	0.62365	0.991;0.989	P;P	0.56751	0.805;0.689	T	0.14476	-1.0471	9	0.39692	T	0.17	.	5.5128	0.16890	0.0:0.0:0.3651:0.6349	.	664;664	P06731;Q53G30	CEAM5_HUMAN;.	H	664;664;382	ENSP00000221992:R664H;ENSP00000385072:R664H	ENSP00000221992:R664H	R	+	2	0	CEACAM5	46916901	0.004000	0.15560	0.002000	0.10522	0.002000	0.02628	0.224000	0.17738	0.366000	0.24427	0.467000	0.42956	CGC		0.473	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		6	313	0	0	0	1	0	6	313				
DENND5B	160518	broad.mit.edu	37	12	31545239	31545239	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr12:31545239C>T	ENST00000389082.5	-	19	3692	c.3428G>A	c.(3427-3429)cGc>cAc	p.R1143H	DENND5B_ENST00000536562.1_Missense_Mutation_p.R1178H|DENND5B_ENST00000306833.6_Missense_Mutation_p.R1178H	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1143	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTGAAAGATGCGGGCAGATTT	0.453																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3427-3429)cGc>cAc		DENN/MADD domain containing 5B							59.0	57.0	58.0					12																	31545239		1876	4104	5980	SO:0001583	missense	160518					integral to membrane		g.chr12:31545239C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3428G>A	12.37:g.31545239C>T	ENSP00000373734:p.Arg1143His					DENND5B_ENST00000306833.6_Missense_Mutation_p.R1178H|DENND5B_ENST00000536562.1_Missense_Mutation_p.R1178H	p.R1143H	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			19	3692	-			1143			RUN 2.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.3428G>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439505	0.83885	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.31510	1.49;1.49;1.49	4.49	3.6	0.41247	RUN (2);	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.982;0.993	T	0.62120	-0.6921	10	0.87932	D	0	-31.5156	12.5019	0.55960	0.0:0.9186:0.0:0.0814	.	1143;1178	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	H	1143;1178;1178	ENSP00000373734:R1143H;ENSP00000306482:R1178H;ENSP00000444889:R1178H	ENSP00000306482:R1178H	R	-	2	0	DENND5B	31436506	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	7.452000	0.80683	1.233000	0.43693	0.561000	0.74099	CGC		0.453	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		4	204	0	0	0	1	0	4	204				
RUNX1T1	862	broad.mit.edu	37	8	92998452	92998452	+	Silent	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:92998452G>A	ENST00000523629.1	-	9	1633	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	RUNX1T1_ENST00000396218.1_Silent_p.I366I|RUNX1T1_ENST00000422361.2_Silent_p.I356I|RUNX1T1_ENST00000265814.3_Silent_p.I393I|RUNX1T1_ENST00000360348.2_Silent_p.I356I|RUNX1T1_ENST00000518844.1_Silent_p.I366I|RUNX1T1_ENST00000436581.2_Silent_p.I404I|RUNX1T1_ENST00000520724.1_Silent_p.I356I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	393					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGTACCGCCGGATCCAGTAAT	0.512																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1177-1179)atC>atT		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							122.0	122.0	122.0					8																	92998452		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998452G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1179C>T	8.37:g.92998452G>A						RUNX1T1_ENST00000360348.2_Silent_p.I356I|RUNX1T1_ENST00000265814.3_Silent_p.I393I|RUNX1T1_ENST00000436581.2_Silent_p.I404I|RUNX1T1_ENST00000396218.1_Silent_p.I366I|RUNX1T1_ENST00000520724.1_Silent_p.I356I|RUNX1T1_ENST00000518844.1_Silent_p.I366I|RUNX1T1_ENST00000422361.2_Silent_p.I356I	p.I393I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1633	-			393					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.1179C>T	CCDS6256.1																																																																																				0.512	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		32	631	0	0	0	1	0	32	631				
NBPF12	149013	broad.mit.edu	37	1	146397379	146397379	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:146397379C>G	ENST00000442909.2	+	6	1032	c.196C>G	c.(196-198)Ctc>Gtc	p.L66V	NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Missense_Mutation_p.L66V			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						GTGTAAAGACCTCATAAAATT	0.527																																						ENST00000442909.2																			0				ovary(2)	2						c.(196-198)Ctc>Gtc		neuroblastoma breakpoint family, member 12																																				SO:0001583	missense	149013							g.chr1:146397379C>G	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.196C>G	1.37:g.146397379C>G	ENSP00000391116:p.Leu66Val					NBPF12_ENST00000446760.2_Missense_Mutation_p.L66V|NBPF12_ENST00000309471.8_Intron	p.L66V							6	1032	+								O95877	Missense_Mutation	SNP	ENST00000442909.2	37	c.196C>G		.	.	.	.	.	.	.	.	.	.	N	8.973	0.973352	0.18736	.	.	ENSG00000186275	ENST00000446760;ENST00000442909	T;T	0.03689	3.84;3.88	1.11	-2.02	0.07388	.	.	.	.	.	T	0.01765	0.0056	L	0.61218	1.895	0.09310	N	1	.	.	.	.	.	.	T	0.41627	-0.9498	7	0.48119	T	0.1	.	2.1489	0.03795	0.408:0.3351:0.2568:0.0	.	.	.	.	V	66	ENSP00000396525:L66V;ENSP00000391116:L66V	ENSP00000391116:L66V	L	+	1	0	NBPF12	144766784	0.004000	0.15560	0.001000	0.08648	0.021000	0.10359	-0.017000	0.12590	-0.566000	0.06054	0.074000	0.15403	CTC		0.527	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	XM_003119146		8	851	0	0	0	1	0	8	851				
CDH23	64072	broad.mit.edu	37	10	73377113	73377113	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:73377113C>T	ENST00000224721.6	+	10	1117	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	CDH23_ENST00000398809.4_Missense_Mutation_p.A366V|CDH23_ENST00000461841.3_Missense_Mutation_p.A411V|CDH23_ENST00000299366.7_Missense_Mutation_p.A411V|CDH23_ENST00000398842.3_Missense_Mutation_p.A366V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	366	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTCGGCTTTGCCCTTCCACTC	0.567																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(1111-1113)gCc>gTc		cadherin-related 23							64.0	69.0	67.0					10																	73377113		2185	4280	6465	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73377113C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1112C>T	10.37:g.73377113C>T	ENSP00000224721:p.Ala371Val					CDH23_ENST00000299366.7_Missense_Mutation_p.A411V|CDH23_ENST00000461841.3_Missense_Mutation_p.A411V|CDH23_ENST00000398809.4_Missense_Mutation_p.A366V|CDH23_ENST00000398842.3_Missense_Mutation_p.A366V	p.A371V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			10	1117	+			366			Cadherin 4.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.1112C>T		.	.	.	.	.	.	.	.	.	.	C	34	5.350184	0.95830	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.59638	0.72;0.25	5.15	5.15	0.70609	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.63510	0.2517	N	0.21448	0.665	0.80722	D	1	P;D;D	0.71674	0.726;0.997;0.998	B;D;D	0.80764	0.343;0.953;0.994	T	0.57642	-0.7776	10	0.19590	T	0.45	.	18.8328	0.92148	0.0:1.0:0.0:0.0	.	366;366;366	A5D6V9;Q9H251;Q9H251-5	.;CAD23_HUMAN;.	V	373;366;366;366;366;371;371;283	ENSP00000381789:A366V;ENSP00000381822:A366V	ENSP00000224721:A373V	A	+	2	0	CDH23	73047119	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.216000	0.77974	2.677000	0.91161	0.563000	0.77884	GCC		0.567	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		4	181	0	0	0	1	0	4	181				
LOC653786	653786	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	C	rs371946225	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr16:22588087G>C	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522																																						ENST00000550753.1																			0																																																			0							g.chr16:22588087G>C																													16.37:g.22588087G>C								NR_003676.2						0	2562	+									RNA	SNP	ENST00000550753.1	37																																																																																						0.522	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			5	130	0	0	0	1	0	5	130				
MFN1	55669	broad.mit.edu	37	3	179076706	179076706	+	Silent	SNP	C	C	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr3:179076706C>A	ENST00000471841.1	+	4	453	c.327C>A	c.(325-327)acC>acA	p.T109T	MFN1_ENST00000280653.7_Silent_p.T109T|MFN1_ENST00000263969.5_Silent_p.T109T	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	109	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GCCATATAACCAATTGCTTCC	0.388																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(325-327)acC>acA		mitofusin 1							163.0	150.0	155.0					3																	179076706		2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179076706C>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.327C>A	3.37:g.179076706C>A						MFN1_ENST00000280653.7_Silent_p.T109T|MFN1_ENST00000263969.5_Silent_p.T109T	p.T109T	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		4	453	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		109					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.327C>A	CCDS3228.1																																																																																				0.388	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		4	214	1	0	1	1	1	4	214				
ASS1	445	broad.mit.edu	37	9	133333912	133333912	+	Missense_Mutation	SNP	G	G	A	rs138279074	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr9:133333912G>A	ENST00000372394.1	+	5	780	c.299G>A	c.(298-300)cGc>cAc	p.R100H	ASS1_ENST00000352480.5_Missense_Mutation_p.R100H|ASS1_ENST00000372393.3_Missense_Mutation_p.R100H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	100					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGCATCGCCCGCAAACAAGTG	0.637													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18364	0.0		0.0	False		,,,				2504	0.001					ENST00000372394.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17	GRCh37	CD031816	ASS1	D	rs138279074	c.(298-300)cGc>cAc		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	G	HIS/ARG,HIS/ARG	2,4404	2.1+/-5.4	0,2,2201	32.0	31.0	31.0		299,299	4.9	1.0	9	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ASS1	NM_000050.4,NM_054012.3	29,29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging	100/413,100/413	133333912	3,13003	2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133333912G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.299G>A	9.37:g.133333912G>A	ENSP00000361471:p.Arg100His					ASS1_ENST00000372393.3_Missense_Mutation_p.R100H|ASS1_ENST00000352480.5_Missense_Mutation_p.R100H	p.R100H			P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	5	780	+			100					Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.299G>A	CCDS6933.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.43	3.388117	0.61956	4.54E-4	1.16E-4	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000422569;ENST00000443588	D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08	4.88	4.88	0.63580	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.168774	0.39083	U	0.001468	D	0.97244	0.9099	M	0.78344	2.41	0.44677	D	0.997665	B;B;B	0.31100	0.308;0.109;0.109	B;B;B	0.20955	0.032;0.032;0.032	D	0.96660	0.9488	10	0.87932	D	0	.	10.6437	0.45606	0.0882:0.0:0.9118:0.0	.	100;100;100	A8KAP9;Q5T6L4;P00966	.;.;ASSY_HUMAN	H	100	ENSP00000253004:R100H;ENSP00000361471:R100H;ENSP00000361469:R100H;ENSP00000394212:R100H;ENSP00000397785:R100H	ENSP00000361470:R100H	R	+	2	0	ASS1	132323733	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	3.895000	0.56258	2.243000	0.73865	0.650000	0.86243	CGC		0.637	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		4	159	0	0	0	1	0	4	159				
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:43318571G>A	ENST00000374518.5	+	20	3201	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1046					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.M1046I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393																																						ENST00000374518.4																			1	Substitution - Missense(1)	p.M1046I(1)	endometrium(1)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3136-3138)atG>atA		BMS1 ribosome biogenesis factor							74.0	83.0	80.0					10																	43318571		2202	4297	6499	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318571G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3138G>A	10.37:g.43318571G>A	ENSP00000363642:p.Met1046Ile						p.M1046I	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3201	+			1046					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3138G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485181	0.63962	.	.	ENSG00000165733	ENST00000374518	T	0.26957	1.7	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.86953	2.85	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.48636	-0.9018	10	0.72032	D	0.01	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1046	Q14692	BMS1_HUMAN	I	1046	ENSP00000363642:M1046I	ENSP00000363642:M1046I	M	+	3	0	BMS1	42638577	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.443000	0.97568	2.250000	0.74265	0.454000	0.30748	ATG		0.393	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		6	500	0	0	0	1	0	6	500				
ARPP21	10777	broad.mit.edu	37	3	35785355	35785355	+	Missense_Mutation	SNP	G	G	T	rs141444314		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr3:35785355G>T	ENST00000187397.4	+	18	2386	c.1930G>T	c.(1930-1932)Ggt>Tgt	p.G644C	ARPP21_ENST00000337271.5_Missense_Mutation_p.G625C|ARPP21_ENST00000417925.1_Missense_Mutation_p.G645C|ARPP21_ENST00000458225.1_Missense_Mutation_p.G645C|MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000444190.1_Missense_Mutation_p.G625C	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	644	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTACCCATCTGGTCAGTACCC	0.448																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1930-1932)Ggt>Tgt		cAMP-regulated phosphoprotein, 21kDa		G	CYS/GLY	1,4405	2.1+/-5.4	0,1,2202	123.0	119.0	120.0		1930	4.9	1.0	3	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARPP21	NM_016300.4	159	0,2,6501	TT,TG,GG		0.0116,0.0227,0.0154	probably-damaging	644/813	35785355	2,13004	2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35785355G>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1930G>T	3.37:g.35785355G>T	ENSP00000187397:p.Gly644Cys					ARPP21_ENST00000444190.1_Missense_Mutation_p.G625C|ARPP21_ENST00000337271.5_Missense_Mutation_p.G625C|ARPP21_ENST00000417925.1_Missense_Mutation_p.G645C|ARPP21_ENST00000458225.1_Missense_Mutation_p.G645C	p.G644C	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			18	2386	+			644			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1930G>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248751	0.80024	2.27E-4	1.16E-4	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.82	4.95	0.65309	.	0.129263	0.50627	D	0.000108	T	0.72104	0.3419	M	0.77103	2.36	0.46849	D	0.999227	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.75958	-0.3134	10	0.72032	D	0.01	-9.9121	13.2052	0.59790	0.0735:0.0:0.9265:0.0	.	645;167;644;625	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	C	645;625;625;644;645	ENSP00000414351:G645C;ENSP00000337792:G625C;ENSP00000405276:G625C;ENSP00000187397:G644C;ENSP00000412326:G645C	ENSP00000187397:G644C	G	+	1	0	ARPP21	35760359	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.027000	0.88791	1.459000	0.47892	0.655000	0.94253	GGT		0.448	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		5	329	1	0	0.014758	1	0.0152499	5	329				
SYNJ1	8867	broad.mit.edu	37	21	34003427	34003427	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr21:34003427G>A	ENST00000322229.7	-	31	4599	c.4600C>T	c.(4600-4602)Ccg>Tcg	p.P1534S	SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.P1487S|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1573S			O43426	SYNJ1_HUMAN	synaptojanin 1	1534	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTTCTTGACGGCAACACACAG	0.517																																						ENST00000382491.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(4459-4461)Ccg>Tcg		synaptojanin 1							144.0	134.0	138.0					21																	34003427		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34003427G>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.4600C>T	21.37:g.34003427G>A	ENSP00000322234:p.Pro1534Ser					SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1534S|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1573S	p.P1487S	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN			28	4583	-			1534			Poly-Glu.|Pro-rich.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.4459C>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753208	0.69648	.	.	ENSG00000159082	ENST00000382491;ENST00000433931;ENST00000322229	T;T;T	0.45668	0.89;0.89;0.89	5.88	4.98	0.66077	.	0.086304	0.49305	D	0.000148	T	0.47248	0.1435	L	0.59436	1.845	0.80722	D	1	D	0.56521	0.976	P	0.47206	0.541	T	0.45542	-0.9254	10	0.37606	T	0.19	.	16.1711	0.81817	0.0:0.0:0.8657:0.1343	.	1534	O43426	SYNJ1_HUMAN	S	1487;1573;1534	ENSP00000371931:P1487S;ENSP00000409667:P1573S;ENSP00000322234:P1534S	ENSP00000322234:P1534S	P	-	1	0	SYNJ1	32925298	1.000000	0.71417	0.666000	0.29783	0.737000	0.42083	3.898000	0.56281	1.419000	0.47118	0.655000	0.94253	CCG		0.517	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				5	282	0	0	0	1	0	5	282				
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:6536011_6536013delCTC	ENST00000400915.3	-	4	361_363	c.295_297delGAG	c.(295-297)gagdel	p.E99del	PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377748.1_In_Frame_Del_p.E120del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99	Poly-Glu.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377748.1																			0				liver(1)	1						c.(358-360)del		pleckstrin homology domain containing, family G (with RhoGef domain) member 5																																				SO:0001651	inframe_deletion	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6536011_6536013delCTC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.295_297delGAG	1.37:g.6536020_6536022delCTC	ENSP00000383706:p.Glu99del		OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	634	PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del	p.E120del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	4	855_857	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	99					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	In_Frame_Del	DEL	ENST00000400915.3	37	c.358_360delGAG	CCDS41241.1																																																																																				0.631	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		11	229						11	229	---	---	---	---
TAF1B	9014	broad.mit.edu	37	2	10059788	10059788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:10059788delA	ENST00000263663.5	+	14	1592	c.1404delA	c.(1402-1404)ggafs	p.G468fs	TAF1B_ENST00000396242.3_Frame_Shift_Del_p.G213fs	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	468					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAACTGCTGGAAAAAAAAGCC	0.418																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1402-1404)ggfs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							76.0	73.0	74.0					2																	10059788		2203	4300	6503	SO:0001589	frameshift_variant	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10059788delA	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1404delA	2.37:g.10059788delA	ENSP00000263663:p.Gly468fs					TAF1B_ENST00000396242.3_Frame_Shift_Del_p.G213fs	p.G468fs	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			14	1592	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		468					B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Del	DEL	ENST00000263663.5	37	c.1404delA	CCDS33143.1																																																																																				0.418	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		7	360						7	360	---	---	---	---
BRE	9577	broad.mit.edu	37	2	28248272	28248273	+	Frame_Shift_Ins	INS	-	-	A	rs373964958|rs201904014	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:28248272_28248273insA	ENST00000342045.2	+	6	621_622	c.480_481insA	c.(481-483)aaafs	p.K161fs	BRE_ENST00000379624.1_Frame_Shift_Ins_p.K161fs|BRE_ENST00000603461.1_3'UTR|BRE_ENST00000361704.2_Frame_Shift_Ins_p.K161fs|BRE_ENST00000379632.2_Frame_Shift_Ins_p.K161fs|BRE_ENST00000344773.2_Frame_Shift_Ins_p.K161fs	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTTATGCTGGGAAAAAAAACAA	0.391																																						ENST00000344773.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(478-483)ggaaaafs		brain and reproductive organ-expressed (TNFRSF1A modulator)																																				SO:0001589	frameshift_variant	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28248272_28248273insA	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.488dupA	2.37:g.28248280_28248280dupA	ENSP00000339371:p.Lys161fs					BRE_ENST00000361704.2_Frame_Shift_Ins_p.GK160fs|BRE_ENST00000379624.1_Frame_Shift_Ins_p.GK160fs|BRE_ENST00000342045.2_Frame_Shift_Ins_p.GK160fs|BRE_ENST00000379632.2_Frame_Shift_Ins_p.GK160fs|BRE_ENST00000603461.1_3'UTR	p.GK160fs	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			5	618_619	+	Acute lymphoblastic leukemia(172;0.155)		160						Frame_Shift_Ins	INS	ENST00000342045.2	37	c.480_481insA	CCDS1763.1																																																																																				0.391	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			7	248						7	248	---	---	---	---
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	lincRNA	DEL	T	T	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	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			8	44						8	44	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89082220	89082223	+	RNA	DEL	TGAT	TGAT	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:89082220_89082223delTGAT	ENST00000393525.3	+	0	474									ankyrin repeat domain 36B pseudogene 2																		TGTGTACATATGATTGATTATGTA	0.328																																						ENST00000393525.3																			0																																																			0							g.chr2:89082220_89082223delTGAT			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89082224_89082227delTGAT														0	474	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.328	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			8	221						8	221	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1918-1920)aafs		transmembrane protein 131							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			18	2148	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		9	883						9	883	---	---	---	---
GTF3C3	9330	broad.mit.edu	37	2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:197649613_197649614insT	ENST00000263956.3	-	8	1170_1171	c.1081_1082insA	c.(1081-1083)actfs	p.T361fs	GTF3C3_ENST00000470386.1_5'Flank|GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.T361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	361					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCTTCTGAAGTTTTTTTTTCC	0.337																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1081-1083)ttcfs		general transcription factor IIIC, polypeptide 3, 102kDa																																				SO:0001589	frameshift_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197649613_197649614insT	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1082dupA	2.37:g.197649622_197649622dupT	ENSP00000263956:p.Thr361fs					GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs	p.F361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			8	1170_1171	-			361					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Frame_Shift_Ins	INS	ENST00000263956.3	37	c.1081_1082insA	CCDS2316.1																																																																																				0.337	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			7	342						7	342	---	---	---	---
NPRL2	10641	broad.mit.edu	37	3	50385605	50385623	+	Frame_Shift_Del	DEL	CACGGTAGTGCCAGGGCTC	CACGGTAGTGCCAGGGCTC	-	rs587650218		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr3:50385605_50385623delCACGGTAGTGCCAGGGCTC	ENST00000232501.3	-	9	1302_1320	c.864_882delGAGCCCTGGCACTACCGTG	c.(862-882)ctgagccctggcactaccgtgfs	p.LSPGTTV288fs	NPRL2_ENST00000493465.1_Intron|CYB561D2_ENST00000232508.5_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|CYB561D2_ENST00000424512.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|ZMYND10_ENST00000360165.3_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	288					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						TGAGGTCTCGCACGGTAGTGCCAGGGCTCAGGCTGCAGT	0.598																																						ENST00000232501.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(862-882)ctfs		nitrogen permease regulator-like 2 (S. cerevisiae)																																				SO:0001589	frameshift_variant	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50385605_50385623delCACGGTAGTGCCAGGGCTC	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"""tumor suppressor candidate 4"""	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.864_882delGAGCCCTGGCACTACCGTG	3.37:g.50385605_50385623delCACGGTAGTGCCAGGGCTC	ENSP00000232501:p.Leu288fs					NPRL2_ENST00000493465.1_Intron	p.LSPGTTV288fs	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN			9	1302_1320	-			288					A8K831|Q6FGS2|Q9Y249|Q9Y497	Frame_Shift_Del	DEL	ENST00000232501.3	37	c.864_882delGAGCCCTGGCACTACCGTG	CCDS2826.1																																																																																				0.598	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		53	86						53	86	---	---	---	---
ACOX2	8309	broad.mit.edu	37	3	58514557	58514558	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr3:58514557_58514558delAG	ENST00000302819.5	-	9	1409_1410	c.1118_1119delCT	c.(1117-1119)actfs	p.T373fs	ACOX2_ENST00000459701.2_Frame_Shift_Del_p.T359fs	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	373					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCAGAATGGCAGTGTAGGAGTG	0.55																																						ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1117-1119)afs		acyl-CoA oxidase 2, branched chain																																				SO:0001589	frameshift_variant	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58514557_58514558delAG	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1118_1119delCT	3.37:g.58514557_58514558delAG	ENSP00000307697:p.Thr373fs					ACOX2_ENST00000459701.2_Frame_Shift_Del_p.T359fs	p.T373fs	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	9	1409_1410	-			373					A6NF16|B2R8U5	Frame_Shift_Del	DEL	ENST00000302819.5	37	c.1118_1119delCT	CCDS33775.1																																																																																				0.550	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			74	63						74	63	---	---	---	---
LINC01182	101929071	broad.mit.edu	37	4	13799706	13799708	+	lincRNA	DEL	ATG	ATG	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr4:13799706_13799708delATG	ENST00000510907.1	+	0	281																											aggaataagaatgaggaggagga	0.527																																						ENST00000510907.1																			0																																																			0							g.chr4:13799706_13799708delATG																													4.37:g.13799706_13799708delATG														0	281	+									RNA	DEL	ENST00000510907.1	37																																																																																						0.527	RP11-341G5.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000360404.1			2	4						2	4	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	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		7	256						7	256	---	---	---	---
ACSL1	2180	broad.mit.edu	37	4	185678849	185678849	+	Frame_Shift_Del	DEL	T	T	-	rs139154123		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr4:185678849delT	ENST00000515030.1	-	20	2221	c.1896delA	c.(1894-1896)aaafs	p.K632fs	ACSL1_ENST00000281455.2_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000513317.1_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000504342.1_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000437665.3_Frame_Shift_Del_p.K461fs|ACSL1_ENST00000454703.2_Frame_Shift_Del_p.K461fs|ACSL1_ENST00000507295.1_Frame_Shift_Del_p.K598fs			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	632					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGAGGATAGCTTTTTTGACAT	0.383																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1894-1896)aafs		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						156.0	162.0	160.0					4																	185678849		2203	4300	6503	SO:0001589	frameshift_variant	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185678849delT	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1896delA	4.37:g.185678849delT	ENSP00000422607:p.Lys632fs					ACSL1_ENST00000281455.2_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000507295.1_Frame_Shift_Del_p.K598fs|ACSL1_ENST00000513317.1_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000437665.3_Frame_Shift_Del_p.K461fs|ACSL1_ENST00000504342.1_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000454703.2_Frame_Shift_Del_p.K461fs	p.K632fs			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	20	2221	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	632					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Frame_Shift_Del	DEL	ENST00000515030.1	37	c.1896delA	CCDS3839.1																																																																																				0.383	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		8	1003						8	1003	---	---	---	---
PAM	5066	broad.mit.edu	37	5	102296908	102296910	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr5:102296908_102296910delAGA	ENST00000438793.3	+	13	1607_1609	c.1137_1139delAGA	c.(1135-1140)cgagaa>cga	p.E383del	PAM_ENST00000274392.9_In_Frame_Del_p.E286del|PAM_ENST00000346918.2_In_Frame_Del_p.E383del|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_In_Frame_Del_p.E383del|PAM_ENST00000348126.2_In_Frame_Del_p.E383del|PAM_ENST00000455264.2_In_Frame_Del_p.E383del	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	383	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AGCCAAAACGAGAAGAAGAAGAA	0.325																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(1135-1140)cga>cg		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)		,,,,	3,4263		0,3,2130					,,,,	2.2	1.0			111	4,8246		0,4,4121	no	coding,coding,coding,coding,coding	PAM	NM_138822.2,NM_138821.2,NM_138766.2,NM_001177306.1,NM_000919.3	,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0703,0.0559	,,,,	,,,,		7,12509				SO:0001651	inframe_deletion	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102296908_102296910delAGA	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1137_1139delAGA	5.37:g.102296917_102296919delAGA	ENSP00000396493:p.Glu383del					PAM_ENST00000346918.2_In_Frame_Del_p.RE379del|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_In_Frame_Del_p.RE379del|PAM_ENST00000348126.2_In_Frame_Del_p.RE379del|PAM_ENST00000274392.9_In_Frame_Del_p.RE282del|PAM_ENST00000304400.7_In_Frame_Del_p.RE379del	p.RE379del	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	13	1607_1609	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	379			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	In_Frame_Del	DEL	ENST00000438793.3	37	c.1137_1139delAGA	CCDS54885.1																																																																																				0.325	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		9	872						9	872	---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156535948	156535950	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr5:156535948_156535950delAGC	ENST00000307851.4	-	1	775_777	c.45_47delGCT	c.(43-48)ctgcta>cta	p.15_16LL>L	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'Flank|HAVCR2_ENST00000522593.1_In_Frame_Del_p.15_16LL>L	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	15						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTAAGTAGTAGCAGCAGCAGCA	0.438																																						ENST00000307851.4																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.L18delL(1)|p.L15L(1)	large_intestine(2)	cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(43-48)cta>ct		hepatitis A virus cellular receptor 2																																				SO:0001651	inframe_deletion	84868					integral to membrane		g.chr5:156535948_156535950delAGC	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.45_47delGCT	5.37:g.156535957_156535959delAGC	ENSP00000312002:p.Leu18del					HAVCR2_ENST00000522593.1_In_Frame_Del_p.LL17del|CTB-120L21.1_ENST00000517708.1_RNA	p.LL17del	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	775_777	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	17					B2RAY2|Q8WW60|Q96K94	In_Frame_Del	DEL	ENST00000307851.4	37	c.45_47delGCT	CCDS4333.1																																																																																				0.438	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			11	275						11	275	---	---	---	---
ZNF184	7738	broad.mit.edu	37	6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aaafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(526-528)aafs		zinc finger protein 184							237.0	235.0	236.0					6																	27420810		2203	4300	6503	SO:0001589	frameshift_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420810delT	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.528delA	6.37:g.27420810delT	ENSP00000211936:p.Lys176fs					ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	812	-			176					B2R715|O60792|Q8TBA9	Frame_Shift_Del	DEL	ENST00000211936.6	37	c.528delA	CCDS4624.1																																																																																				0.408	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		7	1382						7	1382	---	---	---	---
OR2J2	26707	broad.mit.edu	37	6	29141422	29141422	+	Frame_Shift_Del	DEL	A	A	-	rs556940268|rs201438710	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:29141422delA	ENST00000377167.2	+	1	112	c.10delA	c.(10-12)aaafs	p.K5fs		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AATGATGATTAAAAAAAATGC	0.358													AAAAAAAA|AAAAAAAA|AAAAAAA|deletion	21	0.00419329	0.0144	0.0014	5008	,	,		19015	0.0		0.001	False		,,,				2504	0.0					ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(10-12)aafs		olfactory receptor, family 2, subfamily J, member 2							105.0	102.0	103.0					6																	29141422		1836	4079	5915	SO:0001589	frameshift_variant	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141422delA		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.10delA	6.37:g.29141422delA	ENSP00000366372:p.Lys5fs						p.K5fs	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	112	+			5					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Frame_Shift_Del	DEL	ENST00000377167.2	37	c.10delA	CCDS43434.1																																																																																				0.358	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			8	656						8	656	---	---	---	---
ZBTB22	9278	broad.mit.edu	37	6	33283321	33283321	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:33283321delC	ENST00000431845.2	-	2	1524	c.1373delG	c.(1372-1374)ggcfs	p.G458fs	TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.G458fs|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CACCGACGTGCCCCCCACGGT	0.632																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1372-1374)gcfs		zinc finger and BTB domain containing 22							112.0	124.0	120.0					6																	33283321		2203	4300	6503	SO:0001589	frameshift_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283321delC	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1373delG	6.37:g.33283321delC	ENSP00000407545:p.Gly458fs					ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.G458fs	p.G458fs	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1524	-			458					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Frame_Shift_Del	DEL	ENST00000431845.2	37	c.1373delG	CCDS4775.1																																																																																				0.632	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			8	890						8	890	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34826124	34826124	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:34826124delT	ENST00000192788.5	+	14	2162	c.1991delT	c.(1990-1992)cttfs	p.L664fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	664							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L666fs*15(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGCACATGCTTTTTTTGCAT	0.502																																						ENST00000192788.5																			1	Insertion - Frameshift(1)	p.L666fs*15(1)	breast(1)	breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1990-1992)ctfs		UHRF1 binding protein 1							170.0	155.0	159.0					6																	34826124		1916	4147	6063	SO:0001589	frameshift_variant	54887							g.chr6:34826124delT	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1991delT	6.37:g.34826124delT	ENSP00000192788:p.Leu664fs					UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	2162	+			664					Q9NXE0	Frame_Shift_Del	DEL	ENST00000192788.5	37	c.1991delT	CCDS43455.1																																																																																				0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		7	644						7	644	---	---	---	---
TRAF3IP2	10758	broad.mit.edu	37	6	111880692	111880693	+	Frame_Shift_Ins	INS	-	-	T	rs186097801	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:111880692_111880693insT	ENST00000340026.6	-	10	2234_2235	c.1640_1641insA	c.(1639-1641)aacfs	p.N547fs	TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000392556.4_Frame_Shift_Ins_p.N126fs|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Ins_p.N82fs|TRAF3IP2_ENST00000368761.5_Frame_Shift_Ins_p.N538fs|TRAF3IP2_ENST00000359831.4_Frame_Shift_Ins_p.N537fs|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	547	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GCAGCAGGATGTTTTTTTTATT	0.55																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1612-1614)aatfs		TRAF3 interacting protein 2			,,,	0,4264		0,0,2132					,,,	2.5	1.0			119	1,8253		0,1,4126	no	frameshift,frameshift,frameshift,frameshift	TRAF3IP2	NM_147686.2,NM_001164283.1,NM_001164282.1,NM_001164281.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001589	frameshift_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111880692_111880693insT	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1641dupA	6.37:g.111880700_111880700dupT	ENSP00000345984:p.Asn547fs					TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000392556.4_Frame_Shift_Ins_p.N126fs|TRAF3IP2_ENST00000359831.4_Frame_Shift_Ins_p.N537fs|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000340026.6_Frame_Shift_Ins_p.N547fs|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Ins_p.N82fs|TRAF3IP2_ENST00000368731.2_5'UTR	p.N538fs	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	9	2091_2092	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	547			SEFIR.		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Frame_Shift_Ins	INS	ENST00000340026.6	37	c.1613_1614insA																																																																																					0.550	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			7	664						7	664	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117244332	117244332	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:117244332delT	ENST00000332958.2	+	14	1516	c.1500delT	c.(1498-1500)agtfs	p.S500fs		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	500					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TAAAGTGGAGTTTTTTTGGTG	0.328																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1498-1500)agfs		regulatory factor X, 6							155.0	147.0	149.0					6																	117244332		2203	4300	6503	SO:0001589	frameshift_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117244332delT	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1500delT	6.37:g.117244332delT	ENSP00000332208:p.Ser500fs						p.S500fs	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			14	1516	+			500					Q5T6B3	Frame_Shift_Del	DEL	ENST00000332958.2	37	c.1500delT	CCDS5113.1																																																																																				0.328	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		8	732						8	732	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127804080	127804080	+	Frame_Shift_Del	DEL	T	T	-	rs34142169		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:127804080delT	ENST00000525778.1	-	5	2280	c.1535delA	c.(1534-1536)aagfs	p.K512fs	SOGA3_ENST00000556132.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs			Q5TF21	SOGA3_HUMAN	SOGA family member 3	512					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTGTTGAGCCTTTTTTTCAGA	0.294																																						ENST00000556132.1																			0											c.(1534-1536)agfs		SOGA family member 3							133.0	121.0	125.0					6																	127804080		1790	4063	5853	SO:0001589	frameshift_variant	387104					integral to membrane		g.chr6:127804080delT	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1535delA	6.37:g.127804080delT	ENSP00000434570:p.Lys512fs					SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs	p.K512fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			5	2399	-			512						Frame_Shift_Del	DEL	ENST00000525778.1	37	c.1535delA	CCDS43505.1																																																																																				0.294	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		7	1116						7	1116	---	---	---	---
PHTF2	57157	broad.mit.edu	37	7	77569581	77569581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr7:77569581delT	ENST00000248550.7	+	13	1778	c.1702delT	c.(1702-1704)tttfs	p.F569fs	PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000416283.2_Frame_Shift_Del_p.F535fs			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTGGATTTTCTTTTTTTTGCT	0.303																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1600-1602)ttfs		putative homeodomain transcription factor 2							155.0	145.0	148.0					7																	77569581		1810	4080	5890	SO:0001589	frameshift_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77569581delT	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1702delT	7.37:g.77569581delT	ENSP00000248550:p.Phe569fs					PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs	p.F535fs	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			12	1726	+			569					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Frame_Shift_Del	DEL	ENST00000248550.7	37	c.1600delT																																																																																					0.303	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		8	682						8	682	---	---	---	---
CBLL1	79872	broad.mit.edu	37	7	107395909	107395909	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr7:107395909delA	ENST00000440859.3	+	5	880	c.413delA	c.(412-414)gaafs	p.E138fs	CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Frame_Shift_Del_p.E137fs	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	138					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ATTTTACATGAAAAAAAGGGA	0.269																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(412-414)gafs		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							114.0	119.0	117.0					7																	107395909		2203	4298	6501	SO:0001589	frameshift_variant	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107395909delA	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.413delA	7.37:g.107395909delA	ENSP00000401277:p.Glu138fs					CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Frame_Shift_Del_p.E137fs	p.E138fs	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			5	880	+			138					B7ZM03|Q8TAJ4|Q9H5S6	Frame_Shift_Del	DEL	ENST00000440859.3	37	c.413delA	CCDS5747.1																																																																																				0.269	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		8	1265						8	1265	---	---	---	---
ERICH1-AS1	619343	broad.mit.edu	37	8	941911	941911	+	RNA	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:941911delT	ENST00000524139.1	+	0	206				ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA			P0C838	ERAS1_HUMAN	ERICH1 antisense RNA 1																		GTTCCTGTTCTTCTCTCCCTC	0.622																																						ENST00000524139.1																			0																																																			0							g.chr8:941911delT	BC022082, BC038783		8p23.3	2012-10-12	2012-08-15	2012-04-16	ENSG00000237647	ENSG00000237647		"""Long non-coding RNAs"""	32290	non-coding RNA	RNA, long non-coding			"""chromosome 8 open reading frame 68"", ""ERICH1 antisense RNA 1 (non-protein coding)"""	C8orf68			Standard	NR_073397		Approved		uc003wpj.2	P0C838	OTTHUMG00000163635		8.37:g.941911delT						ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA								0	206	+									RNA	DEL	ENST00000524139.1	37																																																																																						0.622	ERICH1-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000374625.1			2	4						2	4	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22021060	22021061	+	5'Flank	DEL	GT	GT	-	rs149538549		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:22021060_22021061delGT	ENST00000306385.5	+	0	0				SFTPC_ENST00000318561.3_Splice_Site|SFTPC_ENST00000521315.1_Splice_Site|BMP1_ENST00000354870.5_5'Flank|BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000437090.2_Splice_Site|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000524255.1_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site|SFTPC_ENST00000522109.1_Frame_Shift_Del_p.V146fs|BMP1_ENST00000397816.3_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)	p.M146fs*41(1)		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)		CAACTTCCAGGTGTGTGTGTGT	0.545																																						ENST00000522109.1																			1	Unknown(1)	p.M146fs*41(1)	large_intestine(1)	autonomic_ganglia(1)|large_intestine(1)|lung(1)	3	GRCh37	CS014615|CS022505	SFTPC	S	rs149538549	c.(436-438)gfs		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22021060_22021061delGT		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.22021070_22021071delGT	Exception_encountered					SFTPC_ENST00000521315.1_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site|SFTPC_ENST00000318561.3_Splice_Site|SFTPC_ENST00000437090.2_Splice_Site|SFTPC_ENST00000524255.1_Splice_Site	p.V146fs			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	4	460_461	+			146			BRICHOS.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Frame_Shift_Del	DEL	ENST00000306385.5	37	c.436_437delGT	CCDS6026.1																																																																																				0.545	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		9	215						9	215	---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23167294	23167294	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:23167294delG	ENST00000389131.3	-	10	2136	c.1767delC	c.(1765-1767)cccfs	p.P589fs		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	589	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGCCCGTGGTGGGGTCGGTCT	0.662																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1765-1767)ccfs		lysyl oxidase-like 2							36.0	34.0	35.0					8																	23167294		2203	4300	6503	SO:0001589	frameshift_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23167294delG	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1767delC	8.37:g.23167294delG	ENSP00000373783:p.Pro589fs						p.P589fs	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	10	2136	-		Prostate(55;0.0453)|Breast(100;0.143)	589			Lysyl-oxidase like.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Frame_Shift_Del	DEL	ENST00000389131.3	37	c.1767delC	CCDS34864.1																																																																																				0.662	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			8	159						8	159	---	---	---	---
GTF2E2	2961	broad.mit.edu	37	8	30511012	30511014	+	In_Frame_Del	DEL	GAT	GAT	-	rs572162637|rs113662547		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:30511012_30511014delGAT	ENST00000355904.4	-	2	384_386	c.102_104delATC	c.(100-105)tcatcg>tcg	p.34_35SS>S		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	34	Poly-Ser.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTTCTTTGACGATGATGATGATG	0.384																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(100-105)tcg>tc		general transcription factor IIE, polypeptide 2, beta 34kDa				132,4130		66,0,2065						-1.2	0.3			151	153,8101		76,1,4050	no	coding	GTF2E2	NM_002095.4		142,1,6115	A1A1,A1R,RR		1.8536,3.0971,2.2771				285,12231				SO:0001651	inframe_deletion	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30511012_30511014delGAT	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.102_104delATC	8.37:g.30511021_30511023delGAT	ENSP00000348168:p.Ser36del						p.SS34del	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	2	384_386	-			34			Poly-Ser.		D3DSV2|Q9H2B9	In_Frame_Del	DEL	ENST00000355904.4	37	c.102_104delATC	CCDS6078.1																																																																																				0.384	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		7	785						7	785	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:38205092delT	ENST00000317025.8	-	2	1115	c.598delA	c.(598-600)agcfs	p.S200fs	WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	200					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCTTGTTGCTTTTTTTCCTC	0.378			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(598-600)gcfs		Wolf-Hirschhorn syndrome candidate 1-like 1							203.0	182.0	189.0					8																	38205092		2203	4300	6503	SO:0001589	frameshift_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205092delT	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.598delA	8.37:g.38205092delT	ENSP00000313983:p.Ser200fs					WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs	p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		2	1115	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	200					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Frame_Shift_Del	DEL	ENST00000317025.8	37	c.598delA	CCDS43729.1																																																																																				0.378	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		9	1241						9	1241	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(766-768)del		thymocyte selection-associated high mobility group box																																				SO:0001651	inframe_deletion	9760					nucleus	DNA binding	g.chr8:59750796_59750798delCTT		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.766_768delAAG	8.37:g.59750805_59750807delCTT	ENSP00000354842:p.Lys256del						p.K256del	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			5	986_988	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	256					Q96AV5	In_Frame_Del	DEL	ENST00000361421.1	37	c.766_768delAAG	CCDS34897.1																																																																																				0.453	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		8	849						8	849	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61769038	61769040	+	In_Frame_Del	DEL	GGA	GGA	-	rs374380640|rs534510177		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:61769038_61769040delGGA	ENST00000423902.2	+	34	7678_7680	c.7199_7201delGGA	c.(7198-7203)cggagg>cgg	p.2400_2401RR>R	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2400	Poly-Arg.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCTCGCCAGCGGAGGAGGAGGAG	0.512																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(7198-7203)cgg>c		chromodomain helicase DNA binding protein 7																																				SO:0001651	inframe_deletion	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61769038_61769040delGGA	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7199_7201delGGA	8.37:g.61769047_61769049delGGA	ENSP00000392028:p.Arg2405del					CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	p.RR2404del	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		34	7678_7680	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2404			Poly-Arg.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	In_Frame_Del	DEL	ENST00000423902.2	37	c.7199_7201delGGA	CCDS47865.1																																																																																				0.512	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		8	148						8	148	---	---	---	---
ESRP1	54845	broad.mit.edu	37	8	95686610	95686611	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:95686610_95686611insA	ENST00000433389.2	+	12	1717_1718	c.1527_1528insA	c.(1528-1530)aaafs	p.K510fs	ESRP1_ENST00000358397.5_Frame_Shift_Ins_p.K510fs|ESRP1_ENST00000423620.2_Frame_Shift_Ins_p.K510fs|ESRP1_ENST00000454170.2_Frame_Shift_Ins_p.K510fs	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	510	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.N512fs*8(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGAAGTGTCATAAAAAAAACAT	0.436																																						ENST00000433389.2																		ESRP1/RAF1(4)	2	Insertion - Frameshift(2)	p.N512fs*8(2)	large_intestine(2)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(1525-1530)caaaaafs		epithelial splicing regulatory protein 1																																				SO:0001589	frameshift_variant	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95686610_95686611insA	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1535dupA	8.37:g.95686618_95686618dupA	ENSP00000405738:p.Lys510fs					ESRP1_ENST00000423620.2_Frame_Shift_Ins_p.QK509fs|ESRP1_ENST00000358397.5_Frame_Shift_Ins_p.QK509fs|ESRP1_ENST00000454170.2_Frame_Shift_Ins_p.QK509fs	p.QK509fs	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			12	1717_1718	+			509			RRM 3.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Frame_Shift_Ins	INS	ENST00000433389.2	37	c.1527_1528insA	CCDS47897.1																																																																																				0.436	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		7	383						7	383	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633584	32633584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	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			10	576						10	576	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-	rs140819336	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:24822125_24822127delGAA	ENST00000376454.3	+	16	3403_3405	c.3373_3375delGAA	c.(3373-3375)gaadel	p.E1129del	KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000376451.2_In_Frame_Del_p.E812del	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1129					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552														6	0.00119808	0.0008	0.0014	5008	,	,		21525	0.0		0.004	False		,,,				2504	0.0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2422-2424)del		KIAA1217			,,	28,4236		0,28,2104					,,	3.6	1.0		dbSNP_134	73	85,8169		0,85,4042	no	coding,coding,coding	KIAA1217	NM_019590.3,NM_001098501.1,NM_001098500.1	,,	0,113,6146	A1A1,A1R,RR		1.0298,0.6567,0.9027	,,	,,		113,12405				SO:0001651	inframe_deletion	56243				embryonic skeletal system development	cytoplasm		g.chr10:24822125_24822127delGAA	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3373_3375delGAA	10.37:g.24822134_24822136delGAA	ENSP00000365637:p.Glu1129del					KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del	p.E812del			Q5T5P2	SKT_HUMAN			11	2682_2684	+			1129					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	In_Frame_Del	DEL	ENST00000376454.3	37	c.2422_2424delGAA	CCDS31165.1																																																																																				0.552	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		7	462						7	462	---	---	---	---
RP11-192P3.4	0	broad.mit.edu	37	10	31498549	31498550	+	lincRNA	DEL	TG	TG	-	rs2785512	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:31498549_31498550delTG	ENST00000605929.1	+	0	317				ZEB1-AS1_ENST00000605946.1_RNA																							CTGCCCGCCCTGCCCCCGCCCC	0.569																																						ENST00000605929.1																			0																																																			0							g.chr10:31498549_31498550delTG																													10.37:g.31498549_31498550delTG						ZEB1-AS1_ENST00000605946.1_RNA								0	317	+									RNA	DEL	ENST00000605929.1	37																																																																																						0.569	RP11-192P3.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470835.1			3	4						3	4	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61831289	61831290	+	Frame_Shift_Ins	INS	-	-	T	rs28932171|rs370637835	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:61831289_61831290insT	ENST00000280772.2	-	37	9540_9541	c.9349_9350insA	c.(9349-9351)atcfs	p.I3117fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3117			I -> V (in dbSNP:rs28932171).		axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGACTTATGATTTTTTTTACA	0.401																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(9349-9351)catfs		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001589	frameshift_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831289_61831290insT	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9350dupA	10.37:g.61831297_61831297dupT	ENSP00000280772:p.Ile3117fs					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.H3117fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9540_9541	-			3117		I -> V (in dbSNP:rs28932171).			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Ins	INS	ENST00000280772.2	37	c.9349_9350insA	CCDS7258.1																																																																																				0.401	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		11	984						11	984	---	---	---	---
TBC1D12	23232	broad.mit.edu	37	10	96281817	96281817	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:96281817delT	ENST00000225235.4	+	10	1977	c.1867delT	c.(1867-1869)tttfs	p.F624fs	TBC1D12_ENST00000485048.1_Intron	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	624	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCAGTTGGCCTTTTTTCGTGT	0.418																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(1867-1869)ttfs		TBC1 domain family, member 12							173.0	155.0	161.0					10																	96281817		1920	4132	6052	SO:0001589	frameshift_variant	23232					intracellular	Rab GTPase activator activity	g.chr10:96281817delT	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1867delT	10.37:g.96281817delT	ENSP00000225235:p.Phe624fs					TBC1D12_ENST00000485048.1_Intron	p.F624fs	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			10	1977	+		Colorectal(252;0.0429)	624			Rab-GAP TBC.		Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Frame_Shift_Del	DEL	ENST00000225235.4	37	c.1867delT	CCDS41553.1																																																																																				0.418	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			10	1078						10	1078	---	---	---	---
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-	rs545805667	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	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		14	573						14	573	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129913974	129913974	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:129913974delT	ENST00000368654.3	-	7	1073	c.698delA	c.(697-699)aatfs	p.N233fs	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	233					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGAGATTCATTTTTTTTGCT	0.343																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(697-699)atfs		marker of proliferation Ki-67							77.0	75.0	76.0					10																	129913974		2203	4300	6503	SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913974delT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.698delA	10.37:g.129913974delT	ENSP00000357643:p.Asn233fs					MKI67_ENST00000368653.3_Intron	p.N233fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1073	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	233					Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	c.698delA	CCDS7659.1																																																																																				0.343	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	528						7	528	---	---	---	---
PSMA1	5682	broad.mit.edu	37	11	14529252	14529254	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr11:14529252_14529254delCAT	ENST00000396394.2	-	9	1079_1081	c.683_685delATG	c.(682-687)gatgtg>gtg	p.D228del	PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000418988.2_In_Frame_Del_p.D234del|PSMA1_ENST00000530457.1_In_Frame_Del_p.D203del|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396393.1_In_Frame_Del_p.D228del|PSMA1_ENST00000524606.1_5'UTR	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AATGGAGACACATCATCATCATC	0.36																																						ENST00000530457.1																			0				large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(607-612)gtg>g		proteasome (prosome, macropain) subunit, alpha type, 1																																				SO:0001651	inframe_deletion	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14529252_14529254delCAT	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.683_685delATG	11.37:g.14529261_14529263delCAT	ENSP00000379676:p.Asp228del					PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000396394.2_In_Frame_Del_p.DV228del|PSMA1_ENST00000418988.2_In_Frame_Del_p.DV234del|PSMA1_ENST00000396393.1_In_Frame_Del_p.DV228del	p.DV203del			P25786	PSA1_HUMAN			9	1138_1140	-			228					A8K400|Q53YE8|Q9BRV9	In_Frame_Del	DEL	ENST00000396394.2	37	c.608_610delATG	CCDS7816.1																																																																																				0.360	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		7	634						7	634	---	---	---	---
TSGA10IP	254187	broad.mit.edu	37	11	65715748	65715751	+	RNA	DEL	CATC	CATC	-	rs570848027|rs200343600|rs585897	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr11:65715748_65715751delCATC	ENST00000532620.1	+	0	1382				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						ACTTTTGGATcatccatccatcca	0.422																																						ENST00000532620.1																			0				endometrium(2)|kidney(3)|lung(9)	14								testis specific, 10 interacting protein																																						254187							g.chr11:65715748_65715751delCATC	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65715756_65715759delCATC										Q3SY00	T10IP_HUMAN			0	1382	+								Q3SXZ9|Q3SY01|Q96M26	RNA	DEL	ENST00000532620.1	37																																																																																						0.422	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		4	9						4	9	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2338-2343)agt>ag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del	p.SD780del			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2372_2374	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	780					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		9	382						9	382	---	---	---	---
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tatgat>tat	p.D460del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	460	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		1	Deletion - In frame(1)	p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(1363-1368)tat>t		Cbl proto-oncogene, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119149356_119149358delATG	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1364_1366delATG	11.37:g.119149365_119149367delATG	ENSP00000264033:p.Asp460del						p.YD455del	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	9	1740_1742	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	455			Asp/Glu-rich (acidic).		A3KMP8	In_Frame_Del	DEL	ENST00000264033.4	37	c.1364_1366delATG	CCDS8418.1																																																																																				0.473	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		8	245						8	245	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(520-522)ccfs		fatty acyl CoA reductase 2							108.0	116.0	113.0					12																	29450110		2203	4300	6503	SO:0001589	frameshift_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29450110delA	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.522delA	12.37:g.29450110delA	ENSP00000443291:p.Pro174fs					RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs	p.P174fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			4	790	+			174					F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Del	DEL	ENST00000536681.3	37	c.522delA	CCDS8717.1																																																																																				0.388	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		12	720						12	720	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269805	31269806	+	RNA	INS	-	-	AAG	rs67001718|rs10650892|rs59759240	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr12:31269805_31269806insAAG	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CAATATTCCTCAAACTTCTCTT	0.307														3185	0.635982	0.7133	0.6095	5008	,	,		11539	0.8284		0.4274	False		,,,				2504	0.5665					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269805_31269806insAAG																													12.37:g.31269805_31269806insAAG														0	52	-									RNA	INS	ENST00000542490.1	37																																																																																						0.307	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			6	12						6	12	---	---	---	---
LOC101927058	101927058	broad.mit.edu	37	12	43018865	43018867	+	lincRNA	DEL	TTC	TTC	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr12:43018865_43018867delTTC	ENST00000550337.1	-	0	752																											ctcttcttctttcttcttcttct	0.453																																						ENST00000550337.1																			0																																																			0							g.chr12:43018865_43018867delTTC																													12.37:g.43018874_43018876delTTC														0	752	-									RNA	DEL	ENST00000550337.1	37																																																																																						0.453	RP11-609L23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000404160.2			8	45						8	45	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88566417	88566417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr12:88566417delT	ENST00000266712.6	+	8	1314	c.1094delT	c.(1093-1095)cttfs	p.L365fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	365					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GCATCGAACCTTTTTTTTCCA	0.313																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1093-1095)ctfs		transmembrane and tetratricopeptide repeat containing 3				18,4246		6,6,2120	135.0	127.0	130.0			5.5	1.0	12		131	19,8235		6,7,4114	no	frameshift	TMTC3	NM_181783.3		12,13,6234	A1A1,A1R,RR		0.2302,0.4221,0.2956			88566417	37,12481	2203	4299	6502	SO:0001589	frameshift_variant	160418					integral to membrane	binding	g.chr12:88566417delT		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1094delT	12.37:g.88566417delT	ENSP00000266712:p.Leu365fs						p.L365fs	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1314	+			365					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	ENST00000266712.6	37	c.1094delT	CCDS9032.1																																																																																				0.313	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		9	944						9	944	---	---	---	---
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Intron	DEL	TG	TG	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	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_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_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			9	253						9	253	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32907421	32907421	+	Frame_Shift_Del	DEL	A	A	-	rs80359307|rs80359309		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr13:32907421delA	ENST00000380152.3	+	10	2039	c.1806delA	c.(1804-1806)ggafs	p.G602fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.G602fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	602					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTATAAAGGAAAAAAAATAC	0.303			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(1804-1806)ggfs	Homologous recombination	breast cancer 2, early onset				53,4211		9,35,2088	30.0	32.0	31.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene		1.6	0.2	13	dbSNP_132	31	97,8137		17,63,4037	no	frameshift	BRCA2	NM_000059.3		26,98,6125	A1A1,A1R,RR		1.178,1.243,1.2002			32907421	150,12348	2203	4291	6494	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32907421delA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1806delA	13.37:g.32907421delA	ENSP00000369497:p.Gly602fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.G602fs	p.G602fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	2033	+		Lung SC(185;0.0262)	602					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.1806delA	CCDS9344.1																																																																																				0.303	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		7	428						7	428	---	---	---	---
GPALPP1	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr13:45580365_45580367delGAT	ENST00000379151.4	+	3	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_De_novo_Start_InFrame|GPALPP1_ENST00000361121.2_In_Frame_Del_p.D88del	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	88	Poly-Asp.																Ggatgatgacgatgatgatgatg	0.335																																						ENST00000361121.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.(250-252)del						311,3953		154,3,1975						-7.1	0.0			182	654,7600		325,4,3798	no	coding	KIAA1704	NM_018559.2		479,7,5773	A1A1,A1R,RR		7.9234,7.2936,7.7089				965,11553				SO:0001651	inframe_deletion	0							g.chr13:45580365_45580367delGAT	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.250_252delGAT	13.37:g.45580374_45580376delGAT	ENSP00000368447:p.Asp88del					RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del	p.D88del			Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	285_287	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	88			Poly-Asp.		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	In_Frame_Del	DEL	ENST00000379151.4	37	c.250_252delGAT	CCDS9394.1																																																																																				0.335	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		18	1169						18	1169	---	---	---	---
ESD	2098	broad.mit.edu	37	13	47354112	47354112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr13:47354112delT	ENST00000378720.3	-	8	740	c.558delA	c.(556-558)aaafs	p.K186fs	ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	186					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CACTAAAGGCTTTTTTGCCCC	0.353																																						ENST00000378720.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(556-558)aafs		esterase D	Glutathione(DB00143)						102.0	103.0	102.0					13																	47354112		2203	4300	6503	SO:0001589	frameshift_variant	2098					cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	g.chr13:47354112delT	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"""S-formylglutathione hydrolase"""	133280	"""esterase D/formylglutathione hydrolase"""				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.558delA	13.37:g.47354112delT	ENSP00000367992:p.Lys186fs					ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR	p.K186fs	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN		GBM - Glioblastoma multiforme(144;2.66e-05)	8	740	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	186					Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Frame_Shift_Del	DEL	ENST00000378720.3	37	c.558delA	CCDS9404.1																																																																																				0.353	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			9	860						9	860	---	---	---	---
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)ttafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418																																						ENST00000355619.5																			1	Insertion - Frameshift(1)	p.L295fs*3(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(883-885)tafs		F-box and leucine-rich repeat protein 3							72.0	73.0	72.0					13																	77581683		2203	4300	6503	SO:0001589	frameshift_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581683delA	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.884delT	13.37:g.77581683delA	ENSP00000347834:p.Leu295fs					FBXL3_ENST00000477982.1_Intron	p.L295fs	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1208	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	295					B2RB04|Q9P122	Frame_Shift_Del	DEL	ENST00000355619.5	37	c.884delT	CCDS9457.1																																																																																				0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			10	418						10	418	---	---	---	---
LAMP1	3916	broad.mit.edu	37	13	113964154	113964154	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr13:113964154delT	ENST00000332556.4	+	3	574	c.380delT	c.(379-381)cttfs	p.L127fs	LAMP1_ENST00000397181.3_Frame_Shift_Del_p.L127fs	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	127	First lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GACACACACCTTTTCCCCAAT	0.408																																						ENST00000332556.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16						c.(379-381)ctfs		lysosomal-associated membrane protein 1							155.0	145.0	148.0					13																	113964154		1906	4125	6031	SO:0001589	frameshift_variant	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113964154delT	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.380delT	13.37:g.113964154delT	ENSP00000333298:p.Leu127fs					LAMP1_ENST00000397181.3_Frame_Shift_Del_p.L127fs	p.L127fs	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		3	574	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	127			First lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Frame_Shift_Del	DEL	ENST00000332556.4	37	c.380delT	CCDS41909.1																																																																																				0.408	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			8	1052						8	1052	---	---	---	---
DPPA3P2	400206	broad.mit.edu	37	14	36841115	36841115	+	RNA	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr14:36841115delT	ENST00000557188.1	+	0	746									developmental pluripotency associated 3 pseudogene 2																		TTCTTGCACCTTTTTTTCTTG	0.358																																						ENST00000557188.1																			0																																																			0							g.chr14:36841115delT			14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36841115delT														0	746	+									RNA	DEL	ENST00000557188.1	37																																																																																						0.358	DPPA3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000410122.1			8	793						8	793	---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T	rs75842899|rs78536283	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr14:39746242_39746243insT	ENST00000280083.3	+	2	482_483	c.168_169insT	c.(169-171)tttfs	p.F57fs	RP11-407N17.3_ENST00000553728.1_Frame_Shift_Ins_p.F592fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.F45fs|CTAGE5_ENST00000556148.1_Intron|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.F57fs			O15320	CTGE5_HUMAN	CTAGE family, member 5	57					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTGCTGTTCTCTTTTTTTTGTG	0.371																																						ENST00000553728.1																			0											c.(1771-1776)ctttttfs																																						SO:0001589	frameshift_variant	0							g.chr14:39746242_39746243insT	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.176dupT	14.37:g.39746250_39746250dupT	ENSP00000280083:p.Phe57fs					CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000557038.1_5'UTR|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs	p.LF591fs							6	1986_1987	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Frame_Shift_Ins	INS	ENST00000280083.3	37	c.1773_1774insT	CCDS9674.1																																																																																				0.371	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		9	527						9	527	---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88940113	88940113	+	Frame_Shift_Del	DEL	T	T	-	rs535011015		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr14:88940113delT	ENST00000556564.1	-	14	2829	c.2545delA	c.(2545-2547)attfs	p.I849fs	PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	849					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGAGGACCAATTTTTTTTGCA	0.393																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2545-2547)ttfs		protein tyrosine phosphatase, non-receptor type 21							181.0	171.0	175.0					14																	88940113		2203	4300	6503	SO:0001589	frameshift_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88940113delT	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2545delA	14.37:g.88940113delT	ENSP00000452414:p.Ile849fs					PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs	p.I849fs	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			14	2829	-			849						Frame_Shift_Del	DEL	ENST00000556564.1	37	c.2545delA	CCDS9884.1																																																																																				0.393	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			10	716						10	716	---	---	---	---
EML1	2009	broad.mit.edu	37	14	100367334	100367334	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr14:100367334delT	ENST00000262233.6	+	9	1105	c.966delT	c.(964-966)ggtfs	p.G322fs	EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs|EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	322	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTGGAATAGGTTTTTTTGACC	0.428																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(964-966)ggfs		echinoderm microtubule associated protein like 1							311.0	270.0	284.0					14																	100367334		2203	4300	6503	SO:0001589	frameshift_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100367334delT	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.966delT	14.37:g.100367334delT	ENSP00000262233:p.Gly322fs					EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs|EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs	p.G322fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			9	1105	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	322					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Frame_Shift_Del	DEL	ENST00000262233.6	37	c.966delT	CCDS32155.1																																																																																				0.428	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		8	839						8	839	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25324325	25324325	+	RNA	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr15:25324325delT	ENST00000546682.1	+	0	0				SNORD116-14_ENST00000383894.1_RNA|SNORD116-12_ENST00000384468.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-13_ENST00000384408.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACAACTGTCATTTTTTTTGAT	0.478																																						ENST00000549804.2																			0																	12,2458		5,2,1228	82.0	80.0	80.0			0.2	0.1	15		82	18,4858		8,2,2428	no	intergenic				13,4,3656	A1A1,A1R,RR		0.3692,0.4858,0.4084			25324325	30,7316	876	1991	2867			0							g.chr15:25324325delT			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25324325delT														0	1377	+									RNA	DEL	ENST00000546682.1	37																																																																																						0.478	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			9	373						9	373	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25337049	25337050	+	RNA	DEL	GA	GA	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr15:25337049_25337050delGA	ENST00000546682.1	+	0	969				SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-23_ENST00000384645.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACTGGAGCTGGAGAGAGAGAGA	0.5																																						ENST00000546682.1																			0																	2,2680		1,0,1340						-3.0	0.0			129	8,5082		4,0,2541	no	intergenic				5,0,3881	A1A1,A1R,RR		0.1572,0.0746,0.1287				10,7762						0							g.chr15:25337049_25337050delGA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25337059_25337060delGA						SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	969	+									RNA	DEL	ENST00000546682.1	37																																																																																						0.500	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			7	845						7	845	---	---	---	---
WHAMM	123720	broad.mit.edu	37	15	83478966	83478966	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr15:83478966delC	ENST00000286760.4	+	1	587	c.488delC	c.(487-489)gccfs	p.A163fs		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	163	Mediates association with membranes. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						TGCGGCGGCGCCACAGTGCGC	0.781																																						ENST00000286760.4																			0				endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						c.(487-489)gcfs		WAS protein homolog associated with actin, golgi membranes and microtubules							1.0	1.0	1.0					15																	83478966		613	1430	2043	SO:0001589	frameshift_variant	123720					cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding	g.chr15:83478966delC	AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.488delC	15.37:g.83478966delC	ENSP00000286760:p.Ala163fs						p.A163fs	NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN			1	587	+			163					Q8N1J9	Frame_Shift_Del	DEL	ENST00000286760.4	37	c.488delC	CCDS45333.1																																																																																				0.781	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			2	4						2	4	---	---	---	---
CMTM1	113540	broad.mit.edu	37	16	66603929	66603930	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr16:66603929_66603930insT	ENST00000457188.2	+	2	293_294	c.172_173insT	c.(172-174)gttfs	p.V58fs	CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.V58fs|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000379500.2_Frame_Shift_Ins_p.V175fs|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.V175fs|CMTM1_ENST00000332695.7_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533953.1_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	58	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CTGCATTGTCGTTTTTTTTATT	0.347																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(523-525)tttfs		CKLF-like MARVEL transmembrane domain containing 1																																				SO:0001589	frameshift_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66603929_66603930insT	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.180dupT	16.37:g.66603937_66603937dupT	ENSP00000405729:p.Val58fs					CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.F175fs|CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000332695.7_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000457188.2_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron	p.F175fs	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	2	590_591	+		Ovarian(137;0.0563)	58					Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Frame_Shift_Ins	INS	ENST00000457188.2	37	c.523_524insT	CCDS45503.1																																																																																				0.347	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		8	772						8	772	---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-	rs528891272	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	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		9	260						9	260	---	---	---	---
TMEM97	27346	broad.mit.edu	37	17	26653806	26653807	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:26653806_26653807insA	ENST00000226230.6	+	3	663_664	c.518_519insA	c.(517-522)agaaaafs	p.RK173fs	TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.RK66fs|TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.RK66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)		p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAAGAGAAAAGAAAAAAAAAAT	0.441																																						ENST00000226230.6																			1	Deletion - Frameshift(1)	p.K176fs?(1)	lung(1)	endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(517-519)aaafs		transmembrane protein 97																																				SO:0001589	frameshift_variant	27346				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	g.chr17:26653806_26653807insA	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.528dupA	17.37:g.26653816_26653816dupA	ENSP00000226230:p.Arg173fs					TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.K66fs|TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.K66fs	p.K173fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	3	663_664	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		173					B4DS02|Q07823	Frame_Shift_Ins	INS	ENST00000226230.6	37	c.518_519insA	CCDS11226.2																																																																																				0.441	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573		16	299						16	299	---	---	---	---
CSF3	1440	broad.mit.edu	37	17	38172769	38172769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:38172769delT	ENST00000225474.2	+	4	375	c.344delT	c.(343-345)cttfs	p.L115fs	CSF3_ENST00000331769.2_Frame_Shift_Del_p.L108fs|RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000577675.1_Frame_Shift_Del_p.L72fs|CSF3_ENST00000394148.3_Frame_Shift_Del_p.L79fs|CSF3_ENST00000394149.3_Frame_Shift_Del_p.L112fs			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	115					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				CATAGCGGCCTTTTCCTCTAC	0.627																																						ENST00000331769.2																			0				endometrium(1)|ovary(1)|prostate(1)	3						c.(322-324)ctfs		colony stimulating factor 3 (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						97.0	107.0	104.0					17																	38172769		2203	4300	6503	SO:0001589	frameshift_variant	1440				cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	g.chr17:38172769delT		CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"""Endogenous ligands"""	2438	protein-coding gene	gene with protein product	"""granulocyte colony stimulating factor"", ""pluripoietin"", ""filgrastim"", ""lenograstim"""	138970	"""chromosome 17 open reading frame 33"""	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.344delT	17.37:g.38172769delT	ENSP00000225474:p.Leu115fs					CSF3_ENST00000225474.2_Frame_Shift_Del_p.L115fs|CSF3_ENST00000394149.3_Frame_Shift_Del_p.L112fs|CSF3_ENST00000394148.3_Frame_Shift_Del_p.L79fs|CSF3_ENST00000577675.1_Frame_Shift_Del_p.L72fs	p.L108fs			P09919	CSF3_HUMAN			3	539	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	115					A8MXR7	Frame_Shift_Del	DEL	ENST00000225474.2	37	c.323delT	CCDS11357.1																																																																																				0.627	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256988.2	NM_172220		9	894						9	894	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65940454	65940456	+	In_Frame_Del	DEL	CAC	CAC	-	rs143937013		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:65940454_65940456delCAC	ENST00000321892.4	+	22	7105_7107	c.7044_7046delCAC	c.(7042-7047)agcacc>agc	p.T2353del	BPTF_ENST00000335221.5_In_Frame_Del_p.T2353del|BPTF_ENST00000424123.3_In_Frame_Del_p.T2214del|BPTF_ENST00000306378.6_In_Frame_Del_p.T2227del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2353	Thr-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCACAGCCAGCACCACCACCACC	0.542																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(7042-7047)agc>ag		bromodomain PHD finger transcription factor																																				SO:0001651	inframe_deletion	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65940454_65940456delCAC	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7044_7046delCAC	17.37:g.65940463_65940465delCAC	ENSP00000315454:p.Thr2353del					BPTF_ENST00000424123.3_In_Frame_Del_p.ST2209del|BPTF_ENST00000306378.6_In_Frame_Del_p.ST2222del|BPTF_ENST00000335221.5_In_Frame_Del_p.ST2348del	p.ST2348del			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		22	7105_7107	+	all_cancers(12;6e-11)		2348			Thr-rich.		Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Del	DEL	ENST00000321892.4	37	c.7044_7046delCAC																																																																																					0.542	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		8	703						8	703	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73750045	73750046	+	Frame_Shift_Ins	INS	-	-	C			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:73750045_73750046insC	ENST00000200181.3	+	33	4495_4496	c.4308_4309insC	c.(4309-4311)cccfs	p.P1437fs	GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Intron|ITGB4_ENST00000339591.3_Intron|ITGB4_ENST00000449880.2_Intron|ITGB4_ENST00000579662.1_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1437					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGACACCCGGGCCCCCCGGAGG	0.817																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(4306-4311)ggccccfs		integrin, beta 4																																				SO:0001589	frameshift_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73750045_73750046insC		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4314dupC	17.37:g.73750051_73750051dupC	ENSP00000200181:p.Pro1437fs					ITGB4_ENST00000339591.3_Intron|ITGB4_ENST00000579662.1_Intron|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Intron|ITGB4_ENST00000449880.2_Intron	p.GP1436fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		33	4495_4496	+	all_cancers(13;1.5e-07)		1436					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Frame_Shift_Ins	INS	ENST00000200181.3	37	c.4308_4309insC	CCDS11727.1																																																																																				0.817	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			2	4						2	4	---	---	---	---
SLC38A10	124565	broad.mit.edu	37	17	79219742	79219742	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:79219742delC	ENST00000374759.3	-	16	3357	c.2974delG	c.(2974-2976)gacfs	p.D992fs		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	992					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGCACATGGTCCCCCCCGCGG	0.687																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2974-2976)acfs		solute carrier family 38, member 10							28.0	33.0	31.0					17																	79219742		1917	4106	6023	SO:0001589	frameshift_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79219742delC	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2974delG	17.37:g.79219742delC	ENSP00000363891:p.Asp992fs						p.D992fs	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	3357	-	all_neural(118;0.0804)|Melanoma(429;0.242)		992					Q6ZRC5|Q8NA99|Q96C66	Frame_Shift_Del	DEL	ENST00000374759.3	37	c.2974delG	CCDS42397.1																																																																																				0.687	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		7	336						7	336	---	---	---	---
SERPINB10	5273	broad.mit.edu	37	18	61584739	61584739	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr18:61584739delA	ENST00000238508.3	+	3	277	c.218delA	c.(217-219)gaafs	p.E73fs		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	73					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R76fs*7(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCTGAAAGTGAAAAAAAAAGG	0.284																																						ENST00000238508.3																			1	Deletion - Frameshift(1)	p.R76fs*7(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(217-219)gafs		serpin peptidase inhibitor, clade B (ovalbumin), member 10				39,129,4010		1,0,37,2,125,1924	26.0	26.0	26.0			5.3	1.0	18		27	67,232,7845		0,0,67,0,232,3773	no	codingComplex	SERPINB10	NM_005024.1		1,0,104,2,357,5697	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6714,4.0211,3.79			61584739	106,361,11855	2173	4255	6428	SO:0001589	frameshift_variant	5273							g.chr18:61584739delA	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.218delA	18.37:g.61584739delA	ENSP00000238508:p.Glu73fs						p.E73fs	NM_005024.1	NP_005015.1					3	277	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Frame_Shift_Del	DEL	ENST00000238508.3	37	c.218delA	CCDS11990.1																																																																																				0.284	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		8	187						8	187	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2118)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del	p.EG705del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2256_2258	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			10	488						10	488	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.L8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.L8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(22-27)ccc>c		sialic acid binding Ig-like lectin 8																																				SO:0001651	inframe_deletion	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961617_51961619delGCA	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.23_25delTGC	19.37:g.51961626_51961628delGCA	ENSP00000321077:p.Leu8del					SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del	p.LP8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	89_91	-		all_neural(266;0.0199)	8					Q7Z728	In_Frame_Del	DEL	ENST00000321424.3	37	c.23_25delTGC	CCDS33086.1																																																																																				0.596	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		7	259						7	259	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21142441	21142442	+	RNA	INS	-	-	A	rs377451007|rs113752643|rs570165711	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr20:21142441_21142442insA	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							TTCATTTCTGGAAAAAAAAAAA	0.366																																						ENST00000591761.1																			0																																																			0							g.chr20:21142441_21142442insA																													20.37:g.21142452_21142452dupA						PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA								0	5142	-									RNA	INS	ENST00000591761.1	37																																																																																						0.366	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			8	60						8	60	---	---	---	---
TSPYL2	64061	broad.mit.edu	37	X	53111759	53111761	+	In_Frame_Del	DEL	CCG	CCG	-	rs368501225		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chrX:53111759_53111761delCCG	ENST00000375442.4	+	1	211_213	c.79_81delCCG	c.(79-81)ccgdel	p.P33del		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	33	Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						CGACccgcccccgccgccgccgc	0.744																																						ENST00000375442.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						c.(79-81)del		TSPY-like 2				12,437		3,5,1,191,50						-3.4	0.0			1	41,1228		10,13,8,497,221	no	coding	TSPYL2	NM_022117.3		13,18,9,688,271	A1A1,A1R,A1,RR,R		3.2309,2.6726,3.085				53,1665				SO:0001651	inframe_deletion	64061				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53111759_53111761delCCG	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.79_81delCCG	X.37:g.53111768_53111770delCCG	ENSP00000364591:p.Pro33del						p.P33del	NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN			1	211_213	+			33			Pro-rich.		O94799|Q96DG7|Q9BZW6	In_Frame_Del	DEL	ENST00000375442.4	37	c.79_81delCCG	CCDS14350.1																																																																																				0.744	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		2	4						2	4	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_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_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_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		8	389						8	389	---	---	---	---
